#tax_id
stringclasses 3
values | GeneID
stringlengths 1
9
| Symbol
stringlengths 2
25
| LocusTag
stringclasses 1
value | Synonyms
stringlengths 1
219
| dbXrefs
stringlengths 1
111
| chromosome
stringclasses 29
values | map_location
stringlengths 1
43
| description
stringlengths 5
141
| type_of_gene
stringclasses 11
values | Symbol_from_nomenclature_authority
stringlengths 1
25
| Full_name_from_nomenclature_authority
stringlengths 1
122
| Nomenclature_status
stringclasses 2
values | Other_designations
stringlengths 1
1.78k
| Modification_date
stringclasses 359
values | Feature_type
stringclasses 149
values |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
9606 | 479 | ATP12A | - | ATP1AL1|H-K-ATPase|HK | MIM:182360|HGNC:HGNC:13816|Ensembl:ENSG00000075673|AllianceGenome:HGNC:13816 | 13 | 13q12.12|13q12.1-q12.3 | ATPase H+/K+ transporting non-gastric alpha2 subunit | protein-coding | ATP12A | ATPase H+/K+ transporting non-gastric alpha2 subunit | O | potassium-transporting ATPase alpha chain 2|ATPase, H+/K+ transporting, nongastric, alpha polypeptide|ATPase, Na+/K+ transporting, alpha polypeptide-like 1|HK alpha 2|non-gastric Na(+)/K(+) ATPase subunit alpha|sodium pump | 20240305 | - |
9606 | 480 | ATP1A4 | - | ATP1A1|ATP1AL2 | MIM:607321|HGNC:HGNC:14073|Ensembl:ENSG00000132681|AllianceGenome:HGNC:14073 | 1 | 1q23.2 | ATPase Na+/K+ transporting subunit alpha 4 | protein-coding | ATP1A4 | ATPase Na+/K+ transporting subunit alpha 4 | O | sodium/potassium-transporting ATPase subunit alpha-4|ATPase, Na+/K+ transporting, alpha 4 polypeptide|ATPase, Na+/K+ transporting, alpha polypeptide-like 2|Na(+)/K(+) ATPase alpha-4 subunit|Na+/K+ ATPase 4|Na+/K+ ATPase, alpha-D polypeptide|Na,K-ATPase subunit alpha-C|sodium pump 4|sodium pump subunit alpha-4|sodium-potassium ATPase catalytic subunit alpha-4|sodium/potassium-transporting ATPase alpha-4 chain | 20240305 | - |
9606 | 481 | ATP1B1 | - | ATP1B | MIM:182330|HGNC:HGNC:804|Ensembl:ENSG00000143153|AllianceGenome:HGNC:804 | 1 | 1q24.2 | ATPase Na+/K+ transporting subunit beta 1 | protein-coding | ATP1B1 | ATPase Na+/K+ transporting subunit beta 1 | O | sodium/potassium-transporting ATPase subunit beta-1|ATPase, Na+/K+ transporting, beta 1 polypeptide|Beta 1-subunit of Na(+),K(+)-ATPase|Na, K-ATPase beta-1 polypeptide|adenosinetriphosphatase|sodium pump subunit beta-1|sodium-potassium ATPase subunit beta 1 (non-catalytic)|sodium/potassium-dependent ATPase beta-1 subunit|sodium/potassium-transporting ATPase beta-1 chain | 20240305 | - |
9606 | 482 | ATP1B2 | - | AMOG | MIM:182331|HGNC:HGNC:805|Ensembl:ENSG00000129244|AllianceGenome:HGNC:805 | 17 | 17p13.1 | ATPase Na+/K+ transporting subunit beta 2 | protein-coding | ATP1B2 | ATPase Na+/K+ transporting subunit beta 2 | O | sodium/potassium-transporting ATPase subunit beta-2|ATPase, Na+/K+ transporting, beta 2 polypeptide|Na, K-ATPase beta-2 polypeptide|adhesion molecule in glia|adhesion molecule on glia|sodium pump subunit beta-2|sodium-potassium ATPase subunit beta 2 (non-catalytic)|sodium/potassium-dependent ATPase beta-2 subunit|sodium/potassium-dependent ATPase subunit beta-2|sodium/potassium-transporting ATPase beta-2 chain | 20240407 | - |
9606 | 483 | ATP1B3 | - | ATPB-3|CD298 | MIM:601867|HGNC:HGNC:806|Ensembl:ENSG00000069849|AllianceGenome:HGNC:806 | 3 | 3q23 | ATPase Na+/K+ transporting subunit beta 3 | protein-coding | ATP1B3 | ATPase Na+/K+ transporting subunit beta 3 | O | sodium/potassium-transporting ATPase subunit beta-3|ATPase, Na+/K+ transporting, beta 3 polypeptide|Na, K-ATPase beta-3 polypeptide|sodium pump subunit beta-3|sodium-potassium ATPase subunit beta 3 (non-catalytic)|sodium/potassium-dependent ATPase subunit beta-3|sodium/potassium-transporting ATPase beta-3 chain | 20240407 | - |
9606 | 484 | ATP1B3P1 | - | - | HGNC:HGNC:807|AllianceGenome:HGNC:807 | 2 | 2p16.1 | ATPase Na+/K+ transporting subunit beta 3 pseudogene 1 | pseudo | ATP1B3P1 | ATPase Na+/K+ transporting subunit beta 3 pseudogene 1 | O | ATPase, Na+/K+ transporting, beta 3 polypeptide pseudogene|ATPase, Na+/K+ transporting, beta 3 pseudogene 1 | 20231010 | - |
9606 | 485 | ATP1B1P1 | - | ATP1BL1 | HGNC:HGNC:809|AllianceGenome:HGNC:809 | 4 | 4p13 | ATPase Na+/K+ transporting subunit beta 1 pseudogene 1 | pseudo | ATP1B1P1 | ATPase Na+/K+ transporting subunit beta 1 pseudogene 1 | O | ATPase, Na+/K+ transporting, beta 1 polypeptide pseudogene 1|ATPase, Na+/K+ transporting, beta polypeptide-like 1 | 20231010 | - |
9606 | 486 | FXYD2 | - | ATP1G1|HOMG2 | MIM:601814|HGNC:HGNC:4026|Ensembl:ENSG00000137731|AllianceGenome:HGNC:4026 | 11 | 11q23.3 | FXYD domain containing ion transport regulator 2 | protein-coding | FXYD2 | FXYD domain containing ion transport regulator 2 | O | sodium/potassium-transporting ATPase subunit gamma|ATPase, Na+/K+ transporting, gamma 1 polypeptide|Na(+)/K(+) ATPase subunit gamma|sodium pump gamma chain | 20240407 | - |
9606 | 487 | ATP2A1 | - | ATP2A|SERCA1 | MIM:108730|HGNC:HGNC:811|Ensembl:ENSG00000196296|AllianceGenome:HGNC:811 | 16 | 16p11.2 | ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 | protein-coding | ATP2A1 | ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 | O | sarcoplasmic/endoplasmic reticulum calcium ATPase 1|ATPase, Ca++ transporting, cardiac muscle, fast twitch 1|SR Ca(2+)-ATPase 1|calcium pump 1|endoplasmic reticulum class 1/2 Ca(2+) ATPase | 20240411 | - |
9606 | 488 | ATP2A2 | - | ATP2B|DAR|DD|SERCA2 | MIM:108740|HGNC:HGNC:812|Ensembl:ENSG00000174437|AllianceGenome:HGNC:812 | 12 | 12q24.11 | ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | protein-coding | ATP2A2 | ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | O | sarcoplasmic/endoplasmic reticulum calcium ATPase 2|ATPase Ca++ transporting cardiac muscle slow twitch 2|ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2|SR Ca(2+)-ATPase 2|calcium pump 2|cardiac Ca2+ ATPase|endoplasmic reticulum class 1/2 Ca(2+) ATPase | 20240413 | - |
9606 | 489 | ATP2A3 | - | SERCA3 | MIM:601929|HGNC:HGNC:813|Ensembl:ENSG00000074370|AllianceGenome:HGNC:813 | 17 | 17p13.2 | ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 | protein-coding | ATP2A3 | ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 | O | sarcoplasmic/endoplasmic reticulum calcium ATPase 3|ATPase, Ca(2+)-transporting, ubiquitous|ATPase, Ca++ transporting, ubiquitous|SR Ca(2+)-ATPase 3|adenosine triphosphatase, calcium|calcium pump 3|calcium-translocating P-type ATPase|sarco/endoplasmic reticulum Ca2+ -ATPase | 20240411 | - |
9606 | 490 | ATP2B1 | - | MRD66|PMCA1|PMCA1kb | MIM:108731|HGNC:HGNC:814|Ensembl:ENSG00000070961|AllianceGenome:HGNC:814 | 12 | 12q21.33 | ATPase plasma membrane Ca2+ transporting 1 | protein-coding | ATP2B1 | ATPase plasma membrane Ca2+ transporting 1 | O | plasma membrane calcium-transporting ATPase 1|ATPase, Ca++ transporting, plasma membrane 1|plasma membrane calcium pump | 20240430 | - |
9606 | 491 | ATP2B2 | - | DFNA82|PMCA2|PMCA2a|PMCA2i | MIM:108733|HGNC:HGNC:815|Ensembl:ENSG00000157087|AllianceGenome:HGNC:815 | 3 | 3p25.3 | ATPase plasma membrane Ca2+ transporting 2 | protein-coding | ATP2B2 | ATPase plasma membrane Ca2+ transporting 2 | O | plasma membrane calcium-transporting ATPase 2|ATPase, Ca++ transporting, plasma membrane 2|plasma membrane Ca(2+)-ATPase|plasma membrane Ca2+ pump 2|plasma membrane calcium ATPase|plasma membrane calcium pump | 20240411 | - |
9606 | 492 | ATP2B3 | - | CFAP39|CLA2|OPCA|PMCA3|PMCA3a|SCAX1 | MIM:300014|HGNC:HGNC:816|Ensembl:ENSG00000067842|AllianceGenome:HGNC:816 | X | Xq28 | ATPase plasma membrane Ca2+ transporting 3 | protein-coding | ATP2B3 | ATPase plasma membrane Ca2+ transporting 3 | O | plasma membrane calcium-transporting ATPase 3|ATPase, Ca++ transporting, plasma membrane 3|cilia and flagella associated protein 39|plasma membrane calcium ATPase|plasma membrane calcium pump | 20240411 | - |
9606 | 493 | ATP2B4 | - | ATP2B2|MXRA1|PMCA4|PMCA4b|PMCA4x | MIM:108732|HGNC:HGNC:817|Ensembl:ENSG00000058668|AllianceGenome:HGNC:817 | 1 | 1q32.1 | ATPase plasma membrane Ca2+ transporting 4 | protein-coding | ATP2B4 | ATPase plasma membrane Ca2+ transporting 4 | O | plasma membrane calcium-transporting ATPase 4|ATPase, Ca++ transporting, plasma membrane 4|matrix-remodeling-associated protein 1|sarcolemmal calcium pump | 20240411 | - |
9606 | 495 | ATP4A | - | ATP6A | MIM:137216|HGNC:HGNC:819|Ensembl:ENSG00000105675|AllianceGenome:HGNC:819 | 19 | 19q13.12 | ATPase H+/K+ transporting subunit alpha | protein-coding | ATP4A | ATPase H+/K+ transporting subunit alpha | O | potassium-transporting ATPase alpha chain 1|ATPase H+/K+ transporting alpha subunit|ATPase, H+/K+ exchanging, alpha polypeptide|ATPase, H+/K+ transporting, alpha polypeptide|epididymis secretory sperm binding protein|gastric H+/K+ ATPase alpha subunit|gastric H,K-ATPase catalytic subunit|gastric hydrogen-potassium ATPase|proton pump | 20240305 | - |
9606 | 496 | ATP4B | - | ATP6B | MIM:137217|HGNC:HGNC:820|Ensembl:ENSG00000186009|AllianceGenome:HGNC:820 | 13 | 13q34 | ATPase H+/K+ transporting subunit beta | protein-coding | ATP4B | ATPase H+/K+ transporting subunit beta | O | potassium-transporting ATPase subunit beta|ATPase H+/K+ transporting beta subunit|ATPase, H+/K+ exchanging, beta polypeptide|ATPase, H+/K+ transporting, beta polypeptide|gastric H(+)/K(+) ATPase subunit beta|gastric H+/K+ ATPase beta subunit|gastric hydrogen-potassium ATPase, beta|potassium-transporting ATPase beta chain|proton pump beta chain | 20240305 | - |
9606 | 498 | ATP5F1A | - | ATP5A|ATP5A1|ATP5AL2|ATPM|COXPD22|HEL-S-123m|MC5DN4|MC5DN4A|MC5DN4B|MOM2|OMR|ORM|hATP1 | MIM:164360|HGNC:HGNC:823|Ensembl:ENSG00000152234|AllianceGenome:HGNC:823 | 18 | 18q21.1 | ATP synthase F1 subunit alpha | protein-coding | ATP5F1A | ATP synthase F1 subunit alpha | O | ATP synthase subunit alpha, mitochondrial|ATP synthase alpha chain, mitochondrial|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle|ATP sythase (F1-ATPase) alpha subunit|epididymis secretory sperm binding protein Li 123m|mitochondrial ATP synthetase, oligomycin-resistant | 20240420 | - |
9606 | 501 | ALDH7A1 | - | ATQ1|EPD|EPEO4|PDE | MIM:107323|HGNC:HGNC:877|Ensembl:ENSG00000164904|AllianceGenome:HGNC:877 | 5 | 5q23.2 | aldehyde dehydrogenase 7 family member A1 | protein-coding | ALDH7A1 | aldehyde dehydrogenase 7 family member A1 | O | alpha-aminoadipic semialdehyde dehydrogenase|26g turgor protein homolog|P6c dehydrogenase|alpha-AASA dehydrogenase|antiquitin-1|betaine aldehyde dehydrogenase|delta1-piperideine-6-carboxylate dehydrogenase|epididymis secretory sperm binding protein | 20240305 | - |
9606 | 504 | ATP5F1AP2 | - | ATP5A1P2|ATP5AP2 | HGNC:HGNC:828|AllianceGenome:HGNC:828 | 2 | 2q24.1 | ATP synthase F1 subunit alpha pseudogene 2 | pseudo | ATP5F1AP2 | ATP synthase F1 subunit alpha pseudogene 2 | O | ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 2|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, pseudogene 2 | 20240121 | - |
9606 | 506 | ATP5F1B | - | ATP5B|ATPMB|ATPSB|HEL-S-271|HUMOP2 | MIM:102910|HGNC:HGNC:830|Ensembl:ENSG00000110955|AllianceGenome:HGNC:830 | 12 | 12q13.3 | ATP synthase F1 subunit beta | protein-coding | ATP5F1B | ATP synthase F1 subunit beta | O | ATP synthase subunit beta, mitochondrial|ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide|epididymis secretory protein Li 271|mitochondrial ATP synthase beta subunit|mitochondrial ATP synthetase, beta subunit | 20240407 | - |
9606 | 507 | ATP5F1BP1 | - | ATP5BL1|ATP5BP1|ATPMBL1|ATPSBL1 | HGNC:HGNC:831|Ensembl:ENSG00000231635|AllianceGenome:HGNC:831 | 2 | 2q11.2 | ATP synthase F1 subunit beta pseudogene 1 | pseudo | ATP5F1BP1 | ATP synthase F1 subunit beta pseudogene 1 | O | ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide pseudogene 1|ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide-like 1 | 20231010 | - |
9606 | 509 | ATP5F1C | - | ATP5C|ATP5C1|ATP5CL1 | MIM:108729|HGNC:HGNC:833|Ensembl:ENSG00000165629|AllianceGenome:HGNC:833 | 10 | 10p14 | ATP synthase F1 subunit gamma | protein-coding | ATP5F1C | ATP synthase F1 subunit gamma | O | ATP synthase subunit gamma, mitochondrial|ATP synthase gamma chain, mitochondrial|ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1|F-ATPase gamma subunit|mitochondrial ATP synthase, gamma subunit 1 | 20240407 | - |
9606 | 513 | ATP5F1D | - | ATP5D|MC5DN5 | MIM:603150|HGNC:HGNC:837|Ensembl:ENSG00000099624|AllianceGenome:HGNC:837 | 19 | 19p13.3 | ATP synthase F1 subunit delta | protein-coding | ATP5F1D | ATP synthase F1 subunit delta | O | ATP synthase subunit delta, mitochondrial|ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit|F-ATPase delta subunit|mitochondrial ATP synthase complex delta-subunit precusor|mitochondrial ATP synthase, delta subunit | 20240305 | - |
9606 | 514 | ATP5F1E | - | ATP5E|ATPE|MC5DN3 | MIM:606153|HGNC:HGNC:838|Ensembl:ENSG00000124172|AllianceGenome:HGNC:838 | 20 | 20q13.32 | ATP synthase F1 subunit epsilon | protein-coding | ATP5F1E | ATP synthase F1 subunit epsilon | O | ATP synthase subunit epsilon, mitochondrial|ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit|F(0)F(1)-ATPase|H(+)-transporting two-sector ATPase|mitochondrial ATP synthase epsilon chain|mitochondrial ATPase | 20240305 | - |
9606 | 515 | ATP5PB | - | ATP5F1|PIG47 | MIM:603270|HGNC:HGNC:840|Ensembl:ENSG00000116459|AllianceGenome:HGNC:840 | 1 | 1p13.2 | ATP synthase peripheral stalk-membrane subunit b | protein-coding | ATP5PB | ATP synthase peripheral stalk-membrane subunit b | O | ATP synthase F(0) complex subunit B1, mitochondrial|ATP synthase B chain, mitochondrial|ATP synthase proton-transporting mitochondrial F(0) complex subunit B1|ATP synthase subunit b, mitochondrial|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b|ATP synthase, H+ transporting, mitochondrial Fo complex subunit B1|ATPase subunit b|H+-ATP synthase subunit b|cell proliferation-inducing protein 47 | 20240407 | - |
9606 | 516 | ATP5MC1 | - | ATP5A|ATP5G|ATP5G1 | MIM:603192|HGNC:HGNC:841|Ensembl:ENSG00000159199|AllianceGenome:HGNC:841 | 17 | 17q21.32 | ATP synthase membrane subunit c locus 1 | protein-coding | ATP5MC1 | ATP synthase membrane subunit c locus 1 | O | ATP synthase F(0) complex subunit C1, mitochondrial|ATP synthase lipid-binding protein, mitochondrial|ATP synthase proteolipid P1|ATP synthase proton-transporting mitochondrial F(0) complex subunit C1|ATP synthase subunit 9|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9)|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9)|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9)|ATPase protein 9|ATPase subunit 9|ATPase subunit C|dicyclohexylcarbodiimide (DCCD)-reactive proteolipid subunit|mitochondrial ATP synthase, subunit 9|mitochondrial ATP synthase, subunit C | 20240305 | - |
9606 | 517 | ATP5MC2 | - | ATP5A|ATP5G2 | MIM:603193|HGNC:HGNC:842|Ensembl:ENSG00000135390|AllianceGenome:HGNC:842 | 12 | 12q13.13 | ATP synthase membrane subunit c locus 2 | protein-coding | ATP5MC2 | ATP synthase membrane subunit c locus 2 | O | ATP synthase F(0) complex subunit C2, mitochondrial|ATP synthase c subunit|ATP synthase lipid-binding protein, mitochondrial|ATP synthase proteolipid P2|ATP synthase proton-transporting mitochondrial F(0) complex subunit C2|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9)|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C2 (subunit 9)|ATPase protein 9|ATPase subunit C|dicyclohexylcarbodiimide (DCCD)-reactive proteolipid subunit | 20240305 | - |
9606 | 518 | ATP5MC3 | - | ATP5G3|DYTSPG|P3 | MIM:602736|HGNC:HGNC:843|Ensembl:ENSG00000154518|AllianceGenome:HGNC:843 | 2 | 2q31.1 | ATP synthase membrane subunit c locus 3 | protein-coding | ATP5MC3 | ATP synthase membrane subunit c locus 3 | O | ATP synthase F(0) complex subunit C3, mitochondrial|ATP synthase lipid-binding protein, mitochondrial|ATP synthase proteolipid P3|ATP synthase proton-transporting mitochondrial F(0) complex subunit C3|ATP synthase subunit 9|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C3 (subunit 9)|ATP synthase, mitochondrial, C subunit-3|ATPase protein 9|ATPase subunit C|dicyclohexylcarbodiimide (DCCD)-reactive proteolipid subunit | 20240305 | - |
9606 | 520 | ATP5MC2P1 | - | ATP5G2P1|ATP5GP1 | HGNC:HGNC:844|AllianceGenome:HGNC:844 | 1 | 1q32.2 | ATP5MC2 pseudogene 1 | pseudo | ATP5MC2P1 | ATP5MC2 pseudogene 1 | O | ATP synthase membrane subunit c locus 2 pseudogene 1|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9) pseudogene 1|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) pseudogene 1|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C2 (subunit 9) pseudogene 1|pseudogene 1 for mitochondrial ATP synthase c subunit (P2 form) | 20231010 | - |
9606 | 521 | ATP5ME | - | ATP5I|ATP5K | MIM:601519|HGNC:HGNC:846|Ensembl:ENSG00000169020|AllianceGenome:HGNC:846 | 4 | 4p16.3 | ATP synthase membrane subunit e | protein-coding | ATP5ME | ATP synthase membrane subunit e | O | ATP synthase subunit e, mitochondrial|ATP synthase e chain, mitochondrial|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit E|ATP synthase, H+ transporting, mitochondrial Fo complex subunit E|ATPase subunit e|F1F0-ATP synthase, murine e subunit | 20240407 | - |
9606 | 522 | ATP5PF | - | ATP5|ATP5A|ATP5J|ATPM|CF6|F6 | MIM:603152|HGNC:HGNC:847|Ensembl:ENSG00000154723|AllianceGenome:HGNC:847 | 21 | 21q21.3 | ATP synthase peripheral stalk subunit F6 | protein-coding | ATP5PF | ATP synthase peripheral stalk subunit F6 | O | ATP synthase-coupling factor 6, mitochondrial|ATP synthase subunit h|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6|ATP synthase, H+ transporting, mitochondrial Fo complex subunit F6|ATPase subunit F6|coupling factor 6|mitochondrial ATP synthase, coupling factor 6|mitochondrial ATP synthase, subunit F6|mitochondrial ATPase coupling factor 6|proliferation-inducing protein 36 | 20240305 | - |
9606 | 523 | ATP6V1A | - | ARCL2D|ATP6A1|ATP6V1A1|DEE93|HO68|IECEE3|VA68|VPP2|Vma1 | MIM:607027|HGNC:HGNC:851|Ensembl:ENSG00000114573|AllianceGenome:HGNC:851 | 3 | 3q13.31 | ATPase H+ transporting V1 subunit A | protein-coding | ATP6V1A | ATPase H+ transporting V1 subunit A | O | V-type proton ATPase catalytic subunit A|ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A|ATPase, H+ transporting, lysosomal, subunit A1|H(+)-transporting two-sector ATPase, subunit A|H+-transporting ATPase chain A, vacuolar (VA68 type)|V-ATPase 69 kDa subunit 1|V-ATPase A subunit 1|V-ATPase subunit A|V-type proton ATPase (V-ATPase) catalytic subunit A|vacuolar proton pump alpha subunit 1|vacuolar proton pump subunit alpha|vacuolar-type H(+)-ATPase | 20240416 | - |
9606 | 525 | ATP6V1B1 | - | ATP6B1|DRTA2|RTA1B|VATB|VMA2|VPP3 | MIM:192132|HGNC:HGNC:853|Ensembl:ENSG00000116039|AllianceGenome:HGNC:853 | 2 | 2p13.3 | ATPase H+ transporting V1 subunit B1 | protein-coding | ATP6V1B1 | ATPase H+ transporting V1 subunit B1 | O | V-type proton ATPase subunit B, kidney isoform|ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1|H(+)-transporting two-sector ATPase, 58kD subunit|H+-ATPase beta 1 subunit|V-ATPase B1 subunit|V-ATPase subunit B 1|endomembrane proton pump 58 kDa subunit|vacuolar proton pump 3|vacuolar proton pump subunit B 1|vacuolar proton pump, subunit 3 | 20240403 | - |
9606 | 526 | ATP6V1B2 | - | ATP6B1B2|ATP6B2|DOOD|HO57|VATB|VPP3|Vma2|ZLS2 | MIM:606939|HGNC:HGNC:854|Ensembl:ENSG00000147416|AllianceGenome:HGNC:854 | 8 | 8p21.3 | ATPase H+ transporting V1 subunit B2 | protein-coding | ATP6V1B2 | ATPase H+ transporting V1 subunit B2 | O | V-type proton ATPase subunit B, brain isoform|ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2|H+ transporting two-sector ATPase|V-ATPase B2 subunit|V-ATPase subunit B 2|endomembrane proton pump 58 kDa subunit|testicular secretory protein Li 65|vacuolar H+-ATPase 56,000 subunit|vacuolar proton pump subunit B 2 | 20240407 | - |
9606 | 527 | ATP6V0C | - | ATP6C|ATP6L|ATPL|EPEO3|VATL|VPPC|Vma3 | MIM:108745|HGNC:HGNC:855|Ensembl:ENSG00000185883|AllianceGenome:HGNC:855 | 16 | 16p13.3 | ATPase H+ transporting V0 subunit c | protein-coding | ATP6V0C | ATPase H+ transporting V0 subunit c | O | V-type proton ATPase 16 kDa proteolipid subunit c|ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c|H(+)-transporting two-sector ATPase, 16 kDa subunit|V-ATPase 16 kDa proteolipid subunit|V-ATPase 16 kDa proteolipid subunit c|V-type proton ATPase 16 kDa proteolipid subunit|vacuolar ATP synthase 16 kDa proteolipid subunit|vacuolar H+ ATPase proton channel subunit|vacuolar proton pump 16 kDa proteolipid subunit|vacuolar proton pump 16 kDa proteolipid subunit c | 20240411 | - |
9606 | 528 | ATP6V1C1 | - | ATP6C|ATP6D|VATC|Vma5 | MIM:603097|HGNC:HGNC:856|Ensembl:ENSG00000155097|AllianceGenome:HGNC:856 | 8 | 8q22.3 | ATPase H+ transporting V1 subunit C1 | protein-coding | ATP6V1C1 | ATPase H+ transporting V1 subunit C1 | O | V-type proton ATPase subunit C 1|ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1|H(+)-transporting two-sector ATPase, subunit C|H+ -ATPase C subunit|H+-transporting ATPase chain C, vacuolar|V-ATPase C subunit|V-ATPase subunit C 1|subunit C of vacuolar proton-ATPase V1 domain|testicular tissue protein Li 223|vacuolar ATP synthase subunit C|vacuolar proton pump C subunit|vacuolar proton pump subunit C 1|vacuolar proton pump, 42-kD subunit|vacuolar proton-ATPase, subunit C, VI domain | 20240305 | - |
9606 | 529 | ATP6V1E1 | - | ARCL2C|ATP6E|ATP6E2|ATP6V1E|P31|Vma4 | MIM:108746|HGNC:HGNC:857|Ensembl:ENSG00000131100|AllianceGenome:HGNC:857 | 22 | 22q11.21 | ATPase H+ transporting V1 subunit E1 | protein-coding | ATP6V1E1 | ATPase H+ transporting V1 subunit E1 | O | V-type proton ATPase subunit E 1|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1|H(+)-transporting two-sector ATPase, 31kDa subunit|H+-transporting ATP synthase chain E, vacuolar|V-ATPase 31 kDa subunit|V-ATPase subunit E 1|V-ATPase, subunit E|vacuolar proton pump subunit E 1 | 20240305 | - |
9606 | 533 | ATP6V0B | - | ATP6F|HATPL|VMA16 | MIM:603717|HGNC:HGNC:861|Ensembl:ENSG00000117410|AllianceGenome:HGNC:861 | 1 | 1p34.1 | ATPase H+ transporting V0 subunit b | protein-coding | ATP6V0B | ATPase H+ transporting V0 subunit b | O | V-type proton ATPase 21 kDa proteolipid subunit c''|ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b|ATPase, H+ transporting, lysosomal, 21-KD, V0 subunit C-prime, prime|ATPase, H+ transporting, lysosomal, subunit F|H(+)-transporting two-sector ATPase, subunit F|V-ATPase 21 kDa proteolipid subunit|V-ATPase 21 kDa proteolipid subunit c''|V-ATPase subunit b|V-ATPase subunit c''|V-type proton ATPase 21 kDa proteolipid subunit|vacuolar ATP synthase 21 kDa proteolipid subunit|vacuolar proton pump 21 kDa proteolipid subunit|vacuolar proton pump 21 kDa proteolipid subunit c'' | 20240411 | - |
9606 | 534 | ATP6V1G2 | - | ATP6G|ATP6G2|NG38|VMA10 | MIM:606853|HGNC:HGNC:862|Ensembl:ENSG00000213760|AllianceGenome:HGNC:862 | 6 | 6p21.33 | ATPase H+ transporting V1 subunit G2 | protein-coding | ATP6V1G2 | ATPase H+ transporting V1 subunit G2 | O | V-type proton ATPase subunit G 2|ATPase, H+ transporting, lysosomal (vacuolar proton pump)|ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2|H(+)-transporting two-sector ATPase, subunit G2|V-ATPase 13 kDa subunit 2|vacuolar ATP synthase subunit G 2|vacuolar proton pump G subunit 2 | 20240411 | - |
9606 | 535 | ATP6V0A1 | - | ATP6N1|ATP6N1A|DEE104|NEDEBA|Stv1|VPP1|Vph1|a1 | MIM:192130|HGNC:HGNC:865|Ensembl:ENSG00000033627|AllianceGenome:HGNC:865 | 17 | 17q21.2 | ATPase H+ transporting V0 subunit a1 | protein-coding | ATP6V0A1 | ATPase H+ transporting V0 subunit a1 | O | V-type proton ATPase 116 kDa subunit a 1|ATPase, H+ transporting, lysosomal V0 subunit a1|ATPase, H+ transporting, lysosomal non-catalytic accessory protein 1 (110/116kD)|H(+)-transporting two-sector ATPase, 116 kDa accessory protein A1|V-ATPase 116 kDa subunit a 1|V-ATPase 116 kDa subunit a1|V-ATPase subunit a1|V-type proton ATPase 116 kDa subunit a|V-type proton ATPase 116 kDa subunit a1|clathrin-coated vesicle/synaptic vesicle proton pump 116 kDa subunit|vacuolar adenosine triphosphatase subunit Ac116|vacuolar proton pump subunit 1|vacuolar proton translocating ATPase 116 kDa subunit A|vacuolar-type H(+)-ATPase 115 kDa subunit | 20240403 | - |
9606 | 537 | ATP6AP1 | - | 16A|ATP6IP1|ATP6S1|Ac45|CF2|VATPS1|XAP-3|XAP3 | MIM:300197|HGNC:HGNC:868|Ensembl:ENSG00000071553|AllianceGenome:HGNC:868 | X | Xq28 | ATPase H+ transporting accessory protein 1 | protein-coding | ATP6AP1 | ATPase H+ transporting accessory protein 1 | O | V-type proton ATPase subunit S1|ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1|ATPase, H+ transporting, lysosomal accessory protein 1|ATPase, H+ transporting, lysosomal interacting protein 1|H-ATPase subunit|V-ATPase Ac45 subunit|V-ATPase S1 accessory protein|V-ATPase subunit S1|X-associated protein 3|epididymis secretory sperm binding protein|protein XAP-3|vacuolar ATPase subunit S1|vacuolar proton pump subunit S1 | 20240411 | - |
9606 | 538 | ATP7A | - | DSMAX|HMNX|MK|MNK|SMAX3 | MIM:300011|HGNC:HGNC:869|Ensembl:ENSG00000165240|AllianceGenome:HGNC:869 | X | Xq21.1 | ATPase copper transporting alpha | protein-coding | ATP7A | ATPase copper transporting alpha | O | copper-transporting ATPase 1|ATPase, Cu++ transporting, alpha polypeptide|Cu++-transporting P-type ATPase|Menkes disease-associated protein|copper pump 1 | 20240305 | - |
9606 | 539 | ATP5PO | - | ATP5O|ATPO|HMC08D05|MC5DN7|OSCP | MIM:600828|HGNC:HGNC:850|Ensembl:ENSG00000241837|AllianceGenome:HGNC:850 | 21 | 21q22.11 | ATP synthase peripheral stalk subunit OSCP | protein-coding | ATP5PO | ATP synthase peripheral stalk subunit OSCP | O | ATP synthase subunit O, mitochondrial|ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit|human ATP synthase OSCP subunit|oligomycin sensitivity conferral protein oscp-like protein|oligomycin sensitivity conferring protein | 20240411 | - |
9606 | 540 | ATP7B | - | PWD|WC1|WD|WND | MIM:606882|HGNC:HGNC:870|Ensembl:ENSG00000123191|AllianceGenome:HGNC:870 | 13 | 13q14.3 | ATPase copper transporting beta | protein-coding | ATP7B | ATPase copper transporting beta | O | copper-transporting ATPase 2|ATPase, Cu(2+)- transporting, beta polypeptide|ATPase, Cu++ transporting, beta polypeptide|Wilson disease-associated protein|copper pump 2|copper-transporting protein ATP7B | 20240422 | - |
9606 | 541 | ALDH7A1P1 | - | ATQL1 | HGNC:HGNC:878|Ensembl:ENSG00000251400|AllianceGenome:HGNC:878 | 5 | 5q13.3 | aldehyde dehydrogenase 7 family member A1 pseudogene 1 | pseudo | ALDH7A1P1 | aldehyde dehydrogenase 7 family member A1 pseudogene 1 | O | antiquitin-like 1 | 20231010 | - |
9606 | 542 | ALDH7A1P2 | - | ATQL2 | HGNC:HGNC:879|Ensembl:ENSG00000232292|AllianceGenome:HGNC:879 | 2 | 2q31.1 | aldehyde dehydrogenase 7 family member A1 pseudogene 2 | pseudo | ALDH7A1P2 | aldehyde dehydrogenase 7 family member A1 pseudogene 2 | O | aldehyde dehydrogenase 7 family, member A1 pseudogene 2|antiquitin-like 2 | 20231010 | - |
9606 | 543 | ALDH7A1P3 | - | ATQL3 | HGNC:HGNC:880|AllianceGenome:HGNC:880 | 7 | 7q36.1 | aldehyde dehydrogenase 7 family member A1 pseudogene 3 | pseudo | ALDH7A1P3 | aldehyde dehydrogenase 7 family member A1 pseudogene 3 | O | antiquitin-like 3 | 20231010 | - |
9606 | 544 | ALDH7A1P4 | - | ATQL4 | HGNC:HGNC:881|AllianceGenome:HGNC:881 | 10 | 10q21.2 | aldehyde dehydrogenase 7 family member A1 pseudogene 4 | pseudo | ALDH7A1P4 | aldehyde dehydrogenase 7 family member A1 pseudogene 4 | O | antiquitin-like 4 | 20231010 | - |
9606 | 545 | ATR | - | FCTCS|FRP1|MEC1|SCKL|SCKL1 | MIM:601215|HGNC:HGNC:882|Ensembl:ENSG00000175054|AllianceGenome:HGNC:882 | 3 | 3q23 | ATR serine/threonine kinase | protein-coding | ATR | ATR serine/threonine kinase | O | serine/threonine-protein kinase ATR|FRAP-related protein-1|MEC1, mitosis entry checkpoint 1, homolog|ataxia telangiectasia and Rad3-related protein | 20240413 | - |
9606 | 546 | ATRX | - | JMS|MRX52|RAD54|RAD54L|XH2|XNP|ZNF-HX | MIM:300032|HGNC:HGNC:886|Ensembl:ENSG00000085224|AllianceGenome:HGNC:886 | X | Xq21.1 | ATRX chromatin remodeler | protein-coding | ATRX | ATRX chromatin remodeler | O | transcriptional regulator ATRX|ATP-dependent helicase ATRX|X-linked helicase II|X-linked nuclear protein | 20240422 | - |
9606 | 547 | KIF1A | - | ATSV|C2orf20|HSN2C|MRD9|NESCAVS|SPG30|UNC104 | MIM:601255|HGNC:HGNC:888|Ensembl:ENSG00000130294|AllianceGenome:HGNC:888 | 2 | 2q37.3 | kinesin family member 1A | protein-coding | KIF1A | kinesin family member 1A | O | kinesin-like protein KIF1A|axonal transporter of synaptic vesicles|kinesin, heavy chain, member 1A, homolog of mouse|microtubule-based motor KIF1A|unc-104- and KIF1A-related protein | 20240403 | - |
9606 | 549 | AUH | - | - | MIM:600529|HGNC:HGNC:890|Ensembl:ENSG00000148090|AllianceGenome:HGNC:890 | 9 | 9q22.31 | AU RNA binding methylglutaconyl-CoA hydratase | protein-coding | AUH | AU RNA binding methylglutaconyl-CoA hydratase | O | methylglutaconyl-CoA hydratase, mitochondrial|3-MG-CoA hydratase|3-methylglutaconyl-CoA hydratase|AU RNA binding protein/enoyl-CoA hydratase|AU RNA-binding protein/enoyl-Coenzyme A hydratase|AU-binding protein/Enoyl-CoA hydratase|AU-specific RNA-binding enoyl-CoA hydratase|itaconyl-CoA hydratase | 20240411 | - |
9606 | 550 | AUP1 | - | - | MIM:602434|HGNC:HGNC:891|Ensembl:ENSG00000115307|AllianceGenome:HGNC:891 | 2 | 2p13.1 | AUP1 lipid droplet regulating VLDL assembly factor | protein-coding | AUP1 | AUP1 lipid droplet regulating VLDL assembly factor | O | lipid droplet-regulating VLDL assembly factor AUP1|ancient ubiquitous protein 1 | 20240411 | - |
9606 | 551 | AVP | - | ADH|ARVP|AVP-NPII|AVRP|VP | MIM:192340|HGNC:HGNC:894|Ensembl:ENSG00000101200|AllianceGenome:HGNC:894 | 20 | 20p13 | arginine vasopressin | protein-coding | AVP | arginine vasopressin | O | vasopressin-neurophysin 2-copeptin|antidiuretic hormone|copeptin|neurohypophyseal|prepro-AVP-NP II|prepro-arginine-vasopressin-neurophysin II|vasopressin-neurophysin II-copeptin | 20240407 | - |
9606 | 552 | AVPR1A | - | AVPR V1a|AVPR1|V1aR | MIM:600821|HGNC:HGNC:895|Ensembl:ENSG00000166148|AllianceGenome:HGNC:895 | 12 | 12q14.2 | arginine vasopressin receptor 1A | protein-coding | AVPR1A | arginine vasopressin receptor 1A | O | vasopressin V1a receptor|SCCL vasopressin subtype 1a receptor|V1-vascular vasopressin receptor AVPR1A|V1a vasopressin receptor|antidiuretic hormone receptor 1A|vascular/hepatic-type arginine vasopressin receptor | 20240411 | - |
9606 | 553 | AVPR1B | - | AVPR3|V1bR|VPR3 | MIM:600264|HGNC:HGNC:896|Ensembl:ENSG00000198049|AllianceGenome:HGNC:896 | 1 | 1q32.1 | arginine vasopressin receptor 1B | protein-coding | AVPR1B | arginine vasopressin receptor 1B | O | vasopressin V1b receptor|AVPR V1b|AVPR V3|V1B receptor|antidiuretic hormone receptor 1B|arginine vasopressin receptor 3|pituitary vasopressin receptor 3|vasopressin V3 receptor | 20240411 | - |
9606 | 554 | AVPR2 | - | ADHR|DI1|DIR|DIR3|NDI|NDI1|V2R | MIM:300538|HGNC:HGNC:897|Ensembl:ENSG00000126895|AllianceGenome:HGNC:897 | X | Xq28 | arginine vasopressin receptor 2 | protein-coding | AVPR2 | arginine vasopressin receptor 2 | O | vasopressin V2 receptor|AVPR V2|antidiuretic hormone receptor|renal-type arginine vasopressin receptor | 20240411 | - |
9606 | 558 | AXL | - | ARK|AXL3|JTK11|Tyro7|UFO | MIM:109135|HGNC:HGNC:905|Ensembl:ENSG00000167601|AllianceGenome:HGNC:905 | 19 | 19q13.2 | AXL receptor tyrosine kinase | protein-coding | AXL | AXL receptor tyrosine kinase | O | tyrosine-protein kinase receptor UFO|AXL oncogene|AXL transforming sequence/gene | 20240425 | - |
9606 | 560 | AZF1 | - | AZF|AZFA|SP3 | MIM:415000 | Y | Yq11 | azoospermia factor 1 | unknown | - | - | - | - | 20240115 | - |
9606 | 563 | AZGP1 | - | ZA2G|ZAG | MIM:194460|HGNC:HGNC:910|Ensembl:ENSG00000160862|AllianceGenome:HGNC:910 | 7 | 7q22.1 | alpha-2-glycoprotein 1, zinc-binding | protein-coding | AZGP1 | alpha-2-glycoprotein 1, zinc-binding | O | zinc-alpha-2-glycoprotein|Alpha-2-glycoprotein, zinc|Zn-alpha2-glycoprotein|testicular tissue protein Li 227|zn-alpha-2-GP|zn-alpha-2-glycoprotein | 20240407 | - |
9606 | 566 | AZU1 | - | AZAMP|AZU|CAP37|HBP|HUMAZUR|NAZC|hHBP | MIM:162815|HGNC:HGNC:913|Ensembl:ENSG00000172232|AllianceGenome:HGNC:913 | 19 | 19p13.3 | azurocidin 1 | protein-coding | AZU1 | azurocidin 1 | O | azurocidin|cationic antimicrobial protein 37|cationic antimicrobial protein CAP37|heparin-binding protein|neutrophil azurocidin | 20240425 | - |
9606 | 567 | B2M | - | IMD43 | MIM:109700|HGNC:HGNC:914|Ensembl:ENSG00000166710|AllianceGenome:HGNC:914 | 15 | 15q21.1 | beta-2-microglobulin | protein-coding | B2M | beta-2-microglobulin | O | beta-2-microglobulin|beta chain of MHC class I molecules|beta-2-microglobin | 20240403 | - |
9606 | 568 | B2MR | - | - | MIM:109710|HGNC:HGNC:915 | 15 | 15q13-q15 | beta-2-microglobulin regulator | unknown | B2MR | beta-2-microglobulin regulator | O | - | 20190324 | - |
9606 | 570 | BAAT | - | BACAT|BACD1|BAT|HCHO | MIM:602938|HGNC:HGNC:932|Ensembl:ENSG00000136881|AllianceGenome:HGNC:932 | 9 | 9q31.1 | bile acid-CoA:amino acid N-acyltransferase | protein-coding | BAAT | bile acid-CoA:amino acid N-acyltransferase | O | bile acid-CoA:amino acid N-acyltransferase|bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)|bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase)|bile acid-CoA thioesterase|choloyl-CoA hydrolase|long-chain fatty-acyl-CoA hydrolase | 20240411 | - |
9606 | 571 | BACH1 | - | BACH-1|BTBD24 | MIM:602751|HGNC:HGNC:935|Ensembl:ENSG00000156273|AllianceGenome:HGNC:935 | 21 | 21q21.3 | BTB domain and CNC homolog 1 | protein-coding | BACH1 | BTB domain and CNC homolog 1 | O | transcription regulator protein BACH1|BTB and CNC homology 1, basic leucine zipper transcription factor 1|basic region leucine zipper transcriptional regulator BACH1 | 20240407 | - |
9606 | 572 | BAD | - | BBC2|BCL2L8 | MIM:603167|HGNC:HGNC:936|Ensembl:ENSG00000002330|AllianceGenome:HGNC:936 | 11 | 11q13.1 | BCL2 associated agonist of cell death | protein-coding | BAD | BCL2 associated agonist of cell death | O | bcl2-associated agonist of cell death|BCL-X/BCL-2 binding protein|BCL2-antagonist of cell death protein|BCL2-binding component 6|BCL2-binding protein|bcl-2-binding component 6|bcl-2-like protein 8|bcl-XL/Bcl-2-associated death promoter|bcl2 antagonist of cell death|bcl2-L-8 | 20240305 | - |
9606 | 573 | BAG1 | - | BAG-1|HAP|RAP46 | MIM:601497|HGNC:HGNC:937|Ensembl:ENSG00000107262|AllianceGenome:HGNC:937 | 9 | 9p13.3 | BAG cochaperone 1 | protein-coding | BAG1 | BAG cochaperone 1 | O | BAG family molecular chaperone regulator 1|BCL2 associated athanogene 1|BCL2-associated athanogene|Bcl-2 associating athanogene-1 protein|Bcl-2-binding protein|glucocortoid receptor-associated protein RAP46|receptor-associated protein, 46-KD | 20240305 | - |
9606 | 574 | BAGE | - | BAGE1|CT2.1 | MIM:605167|HGNC:HGNC:942 | 21 | 21p11.1 | B melanoma antigen | protein-coding | BAGE | B melanoma antigen | O | B melanoma antigen 1|antigen MZ2-BA|cancer/testis antigen 2.1|cancer/testis antigen family 2, member 1 | 20231010 | - |
9606 | 575 | ADGRB1 | - | BAI1|GDAIF | MIM:602682|HGNC:HGNC:943|Ensembl:ENSG00000181790|AllianceGenome:HGNC:943 | 8 | 8q24.3 | adhesion G protein-coupled receptor B1 | protein-coding | ADGRB1 | adhesion G protein-coupled receptor B1 | O | adhesion G protein-coupled receptor B1|brain-specific angiogenesis inhibitor 1 | 20240411 | - |
9606 | 576 | ADGRB2 | - | BAI2 | MIM:602683|HGNC:HGNC:944|Ensembl:ENSG00000121753|AllianceGenome:HGNC:944 | 1 | 1p35.2 | adhesion G protein-coupled receptor B2 | protein-coding | ADGRB2 | adhesion G protein-coupled receptor B2 | O | adhesion G protein-coupled receptor B2|brain-specific angiogenesis inhibitor 2 | 20240411 | - |
9606 | 577 | ADGRB3 | - | BAI3 | MIM:602684|HGNC:HGNC:945|Ensembl:ENSG00000135298|AllianceGenome:HGNC:945 | 6 | 6q12-q13 | adhesion G protein-coupled receptor B3 | protein-coding | ADGRB3 | adhesion G protein-coupled receptor B3 | O | adhesion G protein-coupled receptor B3|brain-specific angiogenesis inhibitor 3|dJ91B17.1 (brain-specific angiogenesis inhibitor 3) | 20240411 | - |
9606 | 578 | BAK1 | - | BAK|BAK-LIKE|BCL2L7|CDN1 | MIM:600516|HGNC:HGNC:949|Ensembl:ENSG00000030110|AllianceGenome:HGNC:949 | 6 | 6p21.31 | BCL2 antagonist/killer 1 | protein-coding | BAK1 | BCL2 antagonist/killer 1 | O | bcl-2 homologous antagonist/killer|BCL2-like 7 protein|apoptosis regulator BAK|bcl-2-like protein 7|bcl2-L-7|pro-apoptotic protein BAK | 20240430 | - |
9606 | 579 | NKX3-2 | - | BAPX1|NKX3.2|NKX3B|SMMD | MIM:602183|HGNC:HGNC:951|Ensembl:ENSG00000109705|AllianceGenome:HGNC:951 | 4 | 4p15.33 | NK3 homeobox 2 | protein-coding | NKX3-2 | NK3 homeobox 2 | O | homeobox protein Nkx-3.2|bagpipe homeobox protein homolog 1|homeobox protein NK-3 homolog B | 20240305 | - |
9606 | 580 | BARD1 | - | - | MIM:601593|HGNC:HGNC:952|Ensembl:ENSG00000138376|AllianceGenome:HGNC:952 | 2 | 2q35 | BRCA1 associated RING domain 1 | protein-coding | BARD1 | BRCA1 associated RING domain 1 | O | BRCA1-associated RING domain protein 1|BRCA1-associated RING domain gene 1|RING-type E3 ubiquitin transferase BARD1 | 20240408 | - |
9606 | 581 | BAX | - | BCL2L4 | MIM:600040|HGNC:HGNC:959|Ensembl:ENSG00000087088|AllianceGenome:HGNC:959 | 19 | 19q13.33 | BCL2 associated X, apoptosis regulator | protein-coding | BAX | BCL2 associated X, apoptosis regulator | O | apoptosis regulator BAX|BCL2 associated X protein|BCL2-associated X protein omega|Baxdelta2(G8)-RFS protein|Baxdelta2G9|Baxdelta2G9omega|Baxdelta2omega|bcl-2-like protein 4|bcl2-L-4 | 20240430 | - |
9606 | 582 | BBS1 | - | BBS2L2 | MIM:209901|HGNC:HGNC:966|Ensembl:ENSG00000174483|AllianceGenome:HGNC:966 | 11 | 11q13.2 | Bardet-Biedl syndrome 1 | protein-coding | BBS1 | Bardet-Biedl syndrome 1 | O | Bardet-Biedl syndrome 1 protein|BBS2-like protein 2 | 20240305 | - |
9606 | 583 | BBS2 | - | BBS|RP74 | MIM:606151|HGNC:HGNC:967|Ensembl:ENSG00000125124|AllianceGenome:HGNC:967 | 16 | 16q13 | Bardet-Biedl syndrome 2 | protein-coding | BBS2 | Bardet-Biedl syndrome 2 | O | Bardet-Biedl syndrome 2 protein | 20240407 | - |
9606 | 585 | BBS4 | - | - | MIM:600374|HGNC:HGNC:969|Ensembl:ENSG00000140463|AllianceGenome:HGNC:969 | 15 | 15q24.1 | Bardet-Biedl syndrome 4 | protein-coding | BBS4 | Bardet-Biedl syndrome 4 | O | Bardet-Biedl syndrome 4 protein | 20240403 | - |
9606 | 586 | BCAT1 | - | BCATC|BCT1|ECA39|MECA39|PNAS121|PP18 | MIM:113520|HGNC:HGNC:976|Ensembl:ENSG00000060982|AllianceGenome:HGNC:976 | 12 | 12p12.1 | branched chain amino acid transaminase 1 | protein-coding | BCAT1 | branched chain amino acid transaminase 1 | O | branched-chain-amino-acid aminotransferase, cytosolic|branched chain amino-acid transaminase 1, cytosolic|branched chain aminotransferase 1, cytosolic|placental protein 18 | 20240411 | - |
9606 | 587 | BCAT2 | - | BCAM|BCATM|BCT2|HVLI|PP18 | MIM:113530|HGNC:HGNC:977|Ensembl:ENSG00000105552|AllianceGenome:HGNC:977 | 19 | 19q13.33 | branched chain amino acid transaminase 2 | protein-coding | BCAT2 | branched chain amino acid transaminase 2 | O | branched-chain-amino-acid aminotransferase, mitochondrial|branched chain amino-acid transaminase 2, mitochondrial|branched chain aminotransferase 2, mitochondrial|placental protein 18 | 20240411 | - |
9606 | 590 | BCHE | - | BCHED|CHE1|CHE2|E1 | MIM:177400|HGNC:HGNC:983|Ensembl:ENSG00000114200|AllianceGenome:HGNC:983 | 3 | 3q26.1 | butyrylcholinesterase | protein-coding | BCHE | butyrylcholinesterase | O | cholinesterase|acylcholine acylhydrolase|butyrylcholine esterase|choline esterase II|cholinesterase (serum) 2|cholinesterase 1|pseudocholinesterase | 20240430 | - |
9606 | 593 | BCKDHA | - | BCKDE1A|MSU|MSUD1|MSUD1A|OVD1A | MIM:608348|HGNC:HGNC:986|Ensembl:ENSG00000248098|AllianceGenome:HGNC:986 | 19 | 19q13.2 | branched chain keto acid dehydrogenase E1 subunit alpha | protein-coding | BCKDHA | branched chain keto acid dehydrogenase E1 subunit alpha | O | 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial|2-oxoisovalerate dehydrogenase (lipoamide)|BCKDH E1-alpha|branched chain keto acid dehydrogenase E1 alpha protein|branched chain keto acid dehydrogenase E1, alpha polypeptide|branched-chain alpha-keto acid dehydrogenase E1 component alpha chain | 20240411 | - |
9606 | 594 | BCKDHB | - | BCKDE1B|BCKDH E1-beta|E1B|MSUD1B|OVD1B | MIM:248611|HGNC:HGNC:987|Ensembl:ENSG00000083123|AllianceGenome:HGNC:987 | 6 | 6q14.1 | branched chain keto acid dehydrogenase E1 subunit beta | protein-coding | BCKDHB | branched chain keto acid dehydrogenase E1 subunit beta | O | 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial|E1b-beta subunit of the branched-chain complex|branched chain alpha-ketoacid dehydrogenase E1-beta subunit|branched chain keto acid dehydrogenase E1 beta|branched chain keto acid dehydrogenase E1, beta polypeptide|branched-chain alpha-keto acid dehydrogenase E1 component beta chain|testis secretory sperm-binding protein Li 240mP | 20240411 | - |
9606 | 595 | CCND1 | - | BCL1|D11S287E|PRAD1|U21B31 | MIM:168461|HGNC:HGNC:1582|Ensembl:ENSG00000110092|AllianceGenome:HGNC:1582 | 11 | 11q13.3 | cyclin D1 | protein-coding | CCND1 | cyclin D1 | O | G1/S-specific cyclin-D1|B-cell CLL/lymphoma 1|B-cell lymphoma 1 protein|BCL-1 oncogene|PRAD1 oncogene | 20240430 | - |
9606 | 596 | BCL2 | - | Bcl-2|PPP1R50 | MIM:151430|HGNC:HGNC:990|Ensembl:ENSG00000171791|AllianceGenome:HGNC:990 | 18 | 18q21.33 | BCL2 apoptosis regulator | protein-coding | BCL2 | BCL2 apoptosis regulator | O | apoptosis regulator Bcl-2|B-cell CLL/lymphoma 2|protein phosphatase 1, regulatory subunit 50 | 20240430 | - |
9606 | 597 | BCL2A1 | - | ACC-1|ACC-2|ACC1|ACC2|BCL2L5|BFL1|GRS|HBPA1 | MIM:601056|HGNC:HGNC:991|Ensembl:ENSG00000140379|AllianceGenome:HGNC:991 | 15 | 15q25.1 | BCL2 related protein A1 | protein-coding | BCL2A1 | BCL2 related protein A1 | O | bcl-2-related protein A1|bcl-2-like protein 5|bcl2-L-5|hematopoietic BCL2-related protein A1|hemopoietic-specific early response protein|protein BFL-1 | 20240411 | - |
9606 | 598 | BCL2L1 | - | BCL-XL/S|BCL2L|BCLX|Bcl-X|PPP1R52 | MIM:600039|HGNC:HGNC:992|Ensembl:ENSG00000171552|AllianceGenome:HGNC:992 | 20 | 20q11.21 | BCL2 like 1 | protein-coding | BCL2L1 | BCL2 like 1 | O | bcl-2-like protein 1|apoptosis regulator Bcl-X|protein phosphatase 1, regulatory subunit 52 | 20240411 | - |
9606 | 599 | BCL2L2 | - | BCL-W|BCL2-L-2|BCLW|PPP1R51 | MIM:601931|HGNC:HGNC:995|Ensembl:ENSG00000129473|AllianceGenome:HGNC:995 | 14 | 14q11.2 | BCL2 like 2 | protein-coding | BCL2L2 | BCL2 like 2 | O | bcl-2-like protein 2|apoptosis regulator BCL-W|protein phosphatase 1, regulatory subunit 51 | 20240411 | - |
9606 | 600 | BAK1P1 | - | BAK2|BCL2L7P1|Bak-2 | HGNC:HGNC:996|AllianceGenome:HGNC:996 | 20 | 20q11.21 | BCL2 antagonist/killer 1 pseudogene 1 | pseudo | BAK1P1 | BCL2 antagonist/killer 1 pseudogene 1 | O | BCL2-like 7 pseudogene 1 | 20231010 | - |
9606 | 601 | BAK1P2 | - | BAK3|BAK3P|BCL2L7P2 | HGNC:HGNC:997|AllianceGenome:HGNC:997 | 11 | 11q24.3 | BCL2 antagonist/killer 1 pseudogene 2 | pseudo | BAK1P2 | BCL2 antagonist/killer 1 pseudogene 2 | O | BCL2-like 7 pseudogene 2 | 20231010 | - |
9606 | 602 | BCL3 | - | BCL4|D19S37 | MIM:109560|HGNC:HGNC:998|Ensembl:ENSG00000069399|AllianceGenome:HGNC:998 | 19 | 19q13.32 | BCL3 transcription coactivator | protein-coding | BCL3 | BCL3 transcription coactivator | O | B-cell lymphoma 3 protein|B cell CLL/lymphoma 3|B-cell leukemia/lymphoma 3|B-cell lymphoma 3-encoded protein|BCL-3|chronic lymphatic leukemia protein|proto-oncogene BCL3 | 20240305 | - |
9606 | 603 | BCL5 | - | - | MIM:151441 | 17 | 17q22 | B cell CLL/lymphoma 5 | unknown | - | - | - | - | 20191002 | - |
9606 | 604 | BCL6 | - | BCL5|BCL6A|LAZ3|ZBTB27|ZNF51 | MIM:109565|HGNC:HGNC:1001|Ensembl:ENSG00000113916|AllianceGenome:HGNC:1001 | 3 | 3q27.3 | BCL6 transcription repressor | protein-coding | BCL6 | BCL6 transcription repressor | O | B-cell lymphoma 6 protein|B cell CLL/lymphoma 6|B-cell lymphoma 5 protein|B-cell lymphoma 6 protein transcript|BCL-5|BCL-6|cys-his2 zinc finger transcription factor|lymphoma-associated zinc finger gene on chromosome 3|protein LAZ-3|zinc finger and BTB domain-containing protein 27|zinc finger protein 51|zinc finger transcription factor BCL6S | 20240411 | - |
9606 | 605 | BCL7A | - | BCL7|SMARCJ1 | MIM:601406|HGNC:HGNC:1004|Ensembl:ENSG00000110987|AllianceGenome:HGNC:1004 | 12 | 12q24.31 | BAF chromatin remodeling complex subunit BCL7A | protein-coding | BCL7A | BAF chromatin remodeling complex subunit BCL7A | O | B-cell CLL/lymphoma 7 protein family member A|B-cell CLL/lymphoma 7A|B-cell CLL/lymphoma-7|BCL tumor suppressor 7A|BCL7A, BAF complex component | 20240305 | - |
9606 | 606 | NBEAP1 | - | BCL8|BCL8A | MIM:601889|HGNC:HGNC:1007|AllianceGenome:HGNC:1007 | 15 | 15q11.2 | neurobeachin pseudogene 1 | pseudo | NBEAP1 | neurobeachin pseudogene 1 | O | B-cell CLL/lymphoma 8 | 20231010 | - |
9606 | 607 | BCL9 | - | LGS | MIM:602597|HGNC:HGNC:1008|Ensembl:ENSG00000116128|AllianceGenome:HGNC:1008 | 1 | 1q21.2 | BCL9 transcription coactivator | protein-coding | BCL9 | BCL9 transcription coactivator | O | B-cell CLL/lymphoma 9 protein|B cell CLL/lymphoma 9|B-cell lymphoma 9 protein|bcl-9|protein legless homolog | 20240310 | - |
9606 | 608 | TNFRSF17 | - | BCM|BCMA|CD269|TNFRSF13A | MIM:109545|HGNC:HGNC:11913|Ensembl:ENSG00000048462|AllianceGenome:HGNC:11913 | 16 | 16p13.13 | TNF receptor superfamily member 17 | protein-coding | TNFRSF17 | TNF receptor superfamily member 17 | O | tumor necrosis factor receptor superfamily member 17|B cell maturation antigen|B-cell maturation factor|B-cell maturation protein | 20240305 | - |
9606 | 610 | HCN2 | - | BCNG-2|BCNG2|EIG17|FEB2|GEFSP11|HAC-1 | MIM:602781|HGNC:HGNC:4846|Ensembl:ENSG00000099822|AllianceGenome:HGNC:4846 | 19 | 19p13.3 | hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 | protein-coding | HCN2 | hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 | O | potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2|brain cyclic nucleotide-gated channel 2|hyperpolarization activated cyclic nucleotide gated potassium channel 2 | 20240411 | - |
9606 | 611 | OPN1SW | - | BCP|BOP|CBT | MIM:613522|HGNC:HGNC:1012|Ensembl:ENSG00000128617|AllianceGenome:HGNC:1012 | 7 | 7q32.1 | opsin 1, short wave sensitive | protein-coding | OPN1SW | opsin 1, short wave sensitive | O | short-wave-sensitive opsin 1|blue cone photoreceptor pigment|blue-sensitive opsin|opsin 1 (cone pigments), short-wave-sensitive | 20240411 | - |
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