#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
358
AQP1
-
AQP-CHIP|CHIP28|CO
MIM:107776|HGNC:HGNC:633|Ensembl:ENSG00000240583|AllianceGenome:HGNC:633
7
7p14.3
aquaporin 1 (Colton blood group)
protein-coding
AQP1
aquaporin 1 (Colton blood group)
O
aquaporin-1|Colton blood group antigen|aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)|aquaporin 1, Colton blood group antigen|aquaporin-CHIP|bloodgroup CO protein|channel-like integral membrane protein, 28-kDa|urine water channel|water channel protein for red blood cells and kidney proximal tubule
20240411
-
9606
359
AQP2
-
AQP-CD|NDI2|WCH-CD
MIM:107777|HGNC:HGNC:634|Ensembl:ENSG00000167580|AllianceGenome:HGNC:634
12
12q13.12
aquaporin 2
protein-coding
AQP2
aquaporin 2
O
aquaporin-2|ADH water channel|AQP-2|aquaporin 2 (collecting duct)|aquaporin-CD|collecting duct water channel protein|water channel protein for renal collecting duct|water-channel aquaporin 2
20240305
-
9606
360
AQP3
-
AQP-3|GIL
MIM:600170|HGNC:HGNC:636|Ensembl:ENSG00000165272|AllianceGenome:HGNC:636
9
9p13.3
aquaporin 3 (Gill blood group)
protein-coding
AQP3
aquaporin 3 (Gill blood group)
O
aquaporin-3|aquaglyceroporin-3|aquaporin 3 (GIL blood group)
20240403
-
9606
361
AQP4
-
MIWC|MLC4|WCH4|hAQP4
MIM:600308|HGNC:HGNC:637|Ensembl:ENSG00000171885|AllianceGenome:HGNC:637
18
18q11.2
aquaporin 4
protein-coding
AQP4
aquaporin 4
O
aquaporin-4|aquaporin type4|mercurial-insensitive water channel
20240416
-
9606
362
AQP5
-
AQP-5|PPKB
MIM:600442|HGNC:HGNC:638|Ensembl:ENSG00000161798|AllianceGenome:HGNC:638
12
12q13.12
aquaporin 5
protein-coding
AQP5
aquaporin 5
O
aquaporin-5
20240305
-
9606
363
AQP6
-
AQP2L|KID
MIM:601383|HGNC:HGNC:639|Ensembl:ENSG00000086159|AllianceGenome:HGNC:639
12
12q13.12
aquaporin 6
protein-coding
AQP6
aquaporin 6
O
aquaporin-6|AQP-6|aquaporin 2-like, kidney specific|aquaporin-6, kidney specific|hKID|kidney-specific aquaporin
20240407
-
9606
364
AQP7
-
AQP7L|AQPap|GLYCQTL
MIM:602974|HGNC:HGNC:640|Ensembl:ENSG00000165269|AllianceGenome:HGNC:640
9
9p13.3
aquaporin 7
protein-coding
AQP7
aquaporin 7
O
aquaporin-7|aquaglyceroporin-7|aquaporin adipose
20240305
-
9606
366
AQP9
-
AQP-9|HsT17287|SSC1|T17287
MIM:602914|HGNC:HGNC:643|Ensembl:ENSG00000103569|AllianceGenome:HGNC:643
15
15q21.3
aquaporin 9
protein-coding
AQP9
aquaporin 9
O
aquaporin-9|aquaglyceroporin-9|small solute channel 1
20240305
-
9606
367
AR
-
AIS|AR8|DHTR|HUMARA|HYSP1|KD|NR3C4|SBMA|SMAX1|TFM
MIM:313700|HGNC:HGNC:644|Ensembl:ENSG00000169083|AllianceGenome:HGNC:644
X
Xq12
androgen receptor
protein-coding
AR
androgen receptor
O
androgen receptor|dihydrotestosterone receptor|nuclear receptor subfamily 3 group C member 4
20240413
-
9606
368
ABCC6
-
ABC34|ARA|EST349056|GACI2|MLP1|MOAT-E|MOATE|MRP6|PXE|PXE1|URG7
MIM:603234|HGNC:HGNC:57|Ensembl:ENSG00000091262|AllianceGenome:HGNC:57
16
16p13.11
ATP binding cassette subfamily C member 6
protein-coding
ABCC6
ATP binding cassette subfamily C member 6
O
ATP-binding cassette sub-family C member 6|URG7 protein|ATP-binding cassette, sub-family C (CFTR/MRP), member 6|anthracycline resistance-associated protein|multi-specific organic anion transporter E|multidrug resistance-associated protein 6
20240305
-
9606
369
ARAF
-
A-RAF|ARAF1|PKS2|RAFA1
MIM:311010|HGNC:HGNC:646|Ensembl:ENSG00000078061|AllianceGenome:HGNC:646
X
Xp11.3
A-Raf proto-oncogene, serine/threonine kinase
protein-coding
ARAF
A-Raf proto-oncogene, serine/threonine kinase
O
serine/threonine-protein kinase A-Raf|A-Raf proto-oncogene serine/threonine-protein kinase|Oncogene ARAF1|Ras-binding protein DA-Raf|proto-oncogene A-Raf-1|proto-oncogene Pks|v-raf murine sarcoma 3611 viral oncogene homolog 1|v-raf murine sarcoma 3611 viral oncogene-like protein
20240407
-
9606
372
ARCN1
-
COPD|SRMMD|SSMG
MIM:600820|HGNC:HGNC:649|Ensembl:ENSG00000095139|AllianceGenome:HGNC:649
11
11q23.3
archain 1
protein-coding
ARCN1
archain 1
O
coatomer subunit delta|COPI coat complex subunit delta|archain vesicle transport protein 1|coatomer delta subunit|coatomer protein complex, subunit delta|coatomer protein delta-COP|delta-COP|delta-coat protein
20240407
-
9606
373
TRIM23
-
ARD1|ARFD1|RNF46
MIM:601747|HGNC:HGNC:660|Ensembl:ENSG00000113595|AllianceGenome:HGNC:660
5
5q12.3
tripartite motif containing 23
protein-coding
TRIM23
tripartite motif containing 23
O
E3 ubiquitin-protein ligase TRIM23|ADP-ribosylation factor domain protein 1, 64kDa|ADP-ribosylation factor domain-containing protein 1|ARF domain protein 1|GTP-binding protein ARD-1|RING finger protein 46|RING-type E3 ubiquitin transferase TRIM23|tripartite motif protein TRIM23|tripartite motif-containing protein 23
20240403
-
9606
374
AREG
-
AR|AREGB|CRDGF|SDGF
MIM:104640|HGNC:HGNC:651|Ensembl:ENSG00000109321|AllianceGenome:HGNC:651
4
4q13.3
amphiregulin
protein-coding
AREG
amphiregulin
O
amphiregulin|amphiregulin B|colorectum cell-derived growth factor|schwannoma-derived growth factor
20240422
-
9606
375
ARF1
-
PVNH8
MIM:103180|HGNC:HGNC:652|Ensembl:ENSG00000143761|AllianceGenome:HGNC:652
1
1q42.13
ADP ribosylation factor 1
protein-coding
ARF1
ADP ribosylation factor 1
O
ADP-ribosylation factor 1
20240305
-
9606
377
ARF3
-
-
MIM:103190|HGNC:HGNC:654|Ensembl:ENSG00000134287|AllianceGenome:HGNC:654
12
12q13.12
ADP ribosylation factor 3
protein-coding
ARF3
ADP ribosylation factor 3
O
ADP-ribosylation factor 3|small GTP binding protein
20240407
-
9606
378
ARF4
-
ARF2
MIM:601177|HGNC:HGNC:655|Ensembl:ENSG00000168374|AllianceGenome:HGNC:655
3
3p14.3
ADP ribosylation factor 4
protein-coding
ARF4
ADP ribosylation factor 4
O
ADP-ribosylation factor 4|ADP-ribosylation factor 2
20240407
-
9606
379
ARL4D
-
ARF4L
MIM:600732|HGNC:HGNC:656|Ensembl:ENSG00000175906|AllianceGenome:HGNC:656
17
17q21.31
ADP ribosylation factor like GTPase 4D
protein-coding
ARL4D
ADP ribosylation factor like GTPase 4D
O
ADP-ribosylation factor-like protein 4D|ADP-ribosylation factor-like 4D|ADP-ribosylation factor-like protein 4L
20240411
-
9606
380
ARF4P1
-
ARF4P
HGNC:HGNC:657|AllianceGenome:HGNC:657
9
9q34.2
ADP ribosylation factor 4 pseudogene 1
pseudo
ARF4P1
ADP ribosylation factor 4 pseudogene 1
O
ADP-ribosylation factor 4 pseudogene
20231010
-
9606
381
ARF5
-
-
MIM:103188|HGNC:HGNC:658|Ensembl:ENSG00000004059|AllianceGenome:HGNC:658
7
7q32.1
ADP ribosylation factor 5
protein-coding
ARF5
ADP ribosylation factor 5
O
ADP-ribosylation factor 5
20240407
-
9606
382
ARF6
-
-
MIM:600464|HGNC:HGNC:659|Ensembl:ENSG00000165527|AllianceGenome:HGNC:659
14
14q21.3
ADP ribosylation factor 6
protein-coding
ARF6
ADP ribosylation factor 6
O
ADP-ribosylation factor 6
20240411
-
9606
383
ARG1
-
-
MIM:608313|HGNC:HGNC:663|Ensembl:ENSG00000118520|AllianceGenome:HGNC:663
6
6q23.2
arginase 1
protein-coding
ARG1
arginase 1
O
arginase-1|arginase, liver|liver-type arginase|type I arginase
20240407
-
9606
384
ARG2
-
-
MIM:107830|HGNC:HGNC:664|Ensembl:ENSG00000081181|AllianceGenome:HGNC:664
14
14q24.1
arginase 2
protein-coding
ARG2
arginase 2
O
arginase-2, mitochondrial|L-arginine amidinohydrolase|L-arginine ureahydrolase|arginase II|arginase, type II|kidney arginase|kidney-type arginase|non-hepatic arginase|nonhepatic arginase|type II arginase
20240305
-
9606
387
RHOA
-
ARH12|ARHA|EDFAOB|RHO12|RHOH12
MIM:165390|HGNC:HGNC:667|Ensembl:ENSG00000067560|AllianceGenome:HGNC:667
3
3p21.31
ras homolog family member A
protein-coding
RHOA
ras homolog family member A
O
transforming protein RhoA|Aplysia ras-related homolog 12|epididymis secretory sperm binding protein|oncogene RHO H12|small GTP binding protein RhoA
20240422
-
9606
388
RHOB
-
ARH6|ARHB|MST081|MSTP081|RHOH6
MIM:165370|HGNC:HGNC:668|Ensembl:ENSG00000143878|AllianceGenome:HGNC:668
2
2p24.1
ras homolog family member B
protein-coding
RHOB
ras homolog family member B
O
rho-related GTP-binding protein RhoB|Aplysia RAS-related homolog 6|h6|oncogene RHO H6|ras homolog gene family, member B|rho cDNA clone 6
20240305
-
9606
389
RHOC
-
ARH9|ARHC|H9|RHOH9
MIM:165380|HGNC:HGNC:669|Ensembl:ENSG00000155366|AllianceGenome:HGNC:669
1
1p13.2
ras homolog family member C
protein-coding
RHOC
ras homolog family member C
O
rho-related GTP-binding protein RhoC|RAS-related homolog 9|epididymis secretory sperm binding protein|oncogene RHO H9|ras homolog gene family, member C|rho cDNA clone 9|rhoC GTPase|small GTP binding protein RhoC
20240305
-
9606
390
RND3
-
ARHE|Rho8|RhoE|memB
MIM:602924|HGNC:HGNC:671|Ensembl:ENSG00000115963|AllianceGenome:HGNC:671
2
2q23.3
Rho family GTPase 3
protein-coding
RND3
Rho family GTPase 3
O
rho-related GTP-binding protein RhoE|protein MemB|ras homolog gene family, member E|rho-related GTP-binding protein Rho8|small GTP binding protein Rho8
20240430
-
9606
391
RHOG
-
ARHG
MIM:179505|HGNC:HGNC:672|Ensembl:ENSG00000177105|AllianceGenome:HGNC:672
11
11p15.4
ras homolog family member G
protein-coding
RHOG
ras homolog family member G
O
rho-related GTP-binding protein RhoG|ras homolog gene family, member G (rho G)
20240305
-
9606
392
ARHGAP1
-
CDC42GAP|RHOGAP|RHOGAP1|p50rhoGAP
MIM:602732|HGNC:HGNC:673|Ensembl:ENSG00000175220|AllianceGenome:HGNC:673
11
11p11.2
Rho GTPase activating protein 1
protein-coding
ARHGAP1
Rho GTPase activating protein 1
O
rho GTPase-activating protein 1|CDC42 GTPase-activating protein|GTPase-activating protein rhoGAP|GTPase-activating protein rhoOGAP|GTPase-activating protein, Rho, 1|rho-related small GTPase protein activator|rho-type GTPase-activating protein 1
20240403
-
9606
393
ARHGAP4
-
C1|RGC1|RhoGAP4|SrGAP4|p115
MIM:300023|HGNC:HGNC:674|Ensembl:ENSG00000089820|AllianceGenome:HGNC:674
X
Xq28
Rho GTPase activating protein 4
protein-coding
ARHGAP4
Rho GTPase activating protein 4
O
rho GTPase-activating protein 4|Rho-GAP hematopoietic protein C1|rho-type GTPase-activating protein 4
20240305
-
9606
394
ARHGAP5
-
GFI2|RhoGAP5|p190-B|p190BRhoGAP
MIM:602680|HGNC:HGNC:675|Ensembl:ENSG00000100852|AllianceGenome:HGNC:675
14
14q12
Rho GTPase activating protein 5
protein-coding
ARHGAP5
Rho GTPase activating protein 5
O
rho GTPase-activating protein 5|growth factor independent 2|p100 RasGAP-associated p105 protein|p105 RhoGAP|rho-type GTPase-activating protein 5
20240305
-
9606
395
ARHGAP6
-
RHOGAP6|RHOGAPX-1
MIM:300118|HGNC:HGNC:676|Ensembl:ENSG00000047648|AllianceGenome:HGNC:676
X
Xp22.2
Rho GTPase activating protein 6
protein-coding
ARHGAP6
Rho GTPase activating protein 6
O
rho GTPase-activating protein 6|Rho-type GTPase-activating protein RhoGAPX-1|rho-type GTPase-activating protein 6
20240310
-
9606
396
ARHGDIA
-
GDIA1|HEL-S-47e|NPHS8|RHOGDI|RHOGDI-1
MIM:601925|HGNC:HGNC:678|Ensembl:ENSG00000141522|AllianceGenome:HGNC:678
17
17q25.3
Rho GDP dissociation inhibitor alpha
protein-coding
ARHGDIA
Rho GDP dissociation inhibitor alpha
O
rho GDP-dissociation inhibitor 1|GDP-dissociation inhibitor, aplysia RAS-related 1|Rho GDP dissociation inhibitor (GDI) alpha|epididymis secretory sperm binding protein Li 47e
20240407
-
9606
397
ARHGDIB
-
D4|GDIA2|GDID4|LYGDI|Ly-GDI|RAP1GN1|RhoGDI2
MIM:602843|HGNC:HGNC:679|Ensembl:ENSG00000111348|AllianceGenome:HGNC:679
12
12p12.3
Rho GDP dissociation inhibitor beta
protein-coding
ARHGDIB
Rho GDP dissociation inhibitor beta
O
rho GDP-dissociation inhibitor 2|Rho GDI 2|Rho GDP dissociation inhibitor (GDI) beta|rho-GDI beta
20240430
-
9606
398
ARHGDIG
-
RHOGDI-3
MIM:602844|HGNC:HGNC:680|Ensembl:ENSG00000242173|AllianceGenome:HGNC:680
16
16p13.3
Rho GDP dissociation inhibitor gamma
protein-coding
ARHGDIG
Rho GDP dissociation inhibitor gamma
O
rho GDP-dissociation inhibitor 3|Rho GDP dissociation inhibitor (GDI) gamma|RhoGDI gamma|rho GDI 3|rho-GDI gamma
20240305
-
9606
399
RHOH
-
ARHH|TTF
MIM:602037|HGNC:HGNC:686|Ensembl:ENSG00000168421|AllianceGenome:HGNC:686
4
4p14
ras homolog family member H
protein-coding
RHOH
ras homolog family member H
O
rho-related GTP-binding protein RhoH|GTP-binding protein TTF|TTF, translocation three four|ras homolog gene family, member H
20240305
-
9606
400
ARL1
-
ARFL1
MIM:603425|HGNC:HGNC:692|Ensembl:ENSG00000120805|AllianceGenome:HGNC:692
12
12q23.2
ADP ribosylation factor like GTPase 1
protein-coding
ARL1
ADP ribosylation factor like GTPase 1
O
ADP-ribosylation factor-like protein 1|ADP-ribosylation factor-like 1
20240407
-
9606
401
PHOX2A
-
ARIX|CFEOM2|FEOM2|NCAM2|PMX2A
MIM:602753|HGNC:HGNC:691|Ensembl:ENSG00000165462|AllianceGenome:HGNC:691
11
11q13.4
paired like homeobox 2A
protein-coding
PHOX2A
paired like homeobox 2A
O
paired mesoderm homeobox protein 2A|ARIX1 homeodomain protein|aristaless homeobox homolog|aristaless homeobox protein homolog|arix homeodomain protein
20240305
-
9606
402
ARL2
-
ARFL2|MRCS1
MIM:601175|HGNC:HGNC:693|Ensembl:ENSG00000213465|AllianceGenome:HGNC:693
11
11q13.1
ADP ribosylation factor like GTPase 2
protein-coding
ARL2
ADP ribosylation factor like GTPase 2
O
ADP-ribosylation factor-like protein 2|ADP-ribosylation factor-like 2
20240407
-
9606
403
ARL3
-
ARFL3|JBTS35|RP83
MIM:604695|HGNC:HGNC:694|Ensembl:ENSG00000138175|AllianceGenome:HGNC:694
10
10q24.32
ADP ribosylation factor like GTPase 3
protein-coding
ARL3
ADP ribosylation factor like GTPase 3
O
ADP-ribosylation factor-like protein 3|ADP-ribosylation factor-like 3|ARF-like 3
20240407
-
9606
405
ARNT
-
ARNT1|HIF-1-beta|HIF-1beta|HIF1-beta|HIF1B|HIF1BETA|TANGO|bHLHe2
MIM:126110|HGNC:HGNC:700|Ensembl:ENSG00000143437|AllianceGenome:HGNC:700
1
1q21.3
aryl hydrocarbon receptor nuclear translocator
protein-coding
ARNT
aryl hydrocarbon receptor nuclear translocator
O
aryl hydrocarbon receptor nuclear translocator|class E basic helix-loop-helix protein 2|dioxin receptor, nuclear translocator|hypoxia inducible factor 1 subunit beta|hypoxia-inducible factor 1, beta subunit
20240403
-
9606
406
BMAL1
-
ARNTL|ARNTL1|BMAL1c|JAP3|MOP3|PASD3|TIC|bHLHe5
MIM:602550|HGNC:HGNC:701|Ensembl:ENSG00000133794|AllianceGenome:HGNC:701
11
11p15.3
basic helix-loop-helix ARNT like 1
protein-coding
BMAL1
basic helix-loop-helix ARNT like 1
O
basic helix-loop-helix ARNT-like protein 1|ARNT-like protein 1, brain and muscle|PAS domain containing 3|PAS domain-containing protein 3|aryl hydrocarbon receptor nuclear translocator like|aryl hydrocarbon receptor nuclear translocator-like protein 1|bHLH-PAS protein JAP3|basic helix-loop-helix family member e5|basic-helix-loop-helix-PAS orphan MOP3|basic-helix-loop-helix-PAS protein MOP3|brain and muscle ARNT-like 1|class E basic helix-loop-helix protein 5|member of PAS protein 3|member of PAS superfamily 3|mutant basic helix-loop-helix ARNT-like protein 1|testis tissue sperm-binding protein Li 50e
20240403
-
9606
407
ARR3
-
ARRX|MYP26|cArr
MIM:301770|HGNC:HGNC:710|Ensembl:ENSG00000120500|AllianceGenome:HGNC:710
X
Xq13.1
arrestin 3
protein-coding
ARR3
arrestin 3
O
arrestin-C|C-arrestin|arrestin 3 retinal (X-arrestin)|arrestin 4|retinal cone arrestin-3
20240407
-
9606
408
ARRB1
-
ARB1|ARR1
MIM:107940|HGNC:HGNC:711|Ensembl:ENSG00000137486|AllianceGenome:HGNC:711
11
11q13.4
arrestin beta 1
protein-coding
ARRB1
arrestin beta 1
O
beta-arrestin-1|arrestin 2|non-visual arrestin-2
20240407
-
9606
409
ARRB2
-
ARB2|ARR2|BARR2
MIM:107941|HGNC:HGNC:712|Ensembl:ENSG00000141480|AllianceGenome:HGNC:712
17
17p13.2
arrestin beta 2
protein-coding
ARRB2
arrestin beta 2
O
beta-arrestin-2|arrestin 3|non-visual arrestin-3
20240403
-
9606
410
ARSA
-
ASA|MLD
MIM:607574|HGNC:HGNC:713|Ensembl:ENSG00000100299|AllianceGenome:HGNC:713
22
22q13.33
arylsulfatase A
protein-coding
ARSA
arylsulfatase A
O
arylsulfatase A|cerebroside-sulfatase|epididymis secretory sperm binding protein
20240403
-
9606
411
ARSB
-
ASB|G4S|MPS6
MIM:611542|HGNC:HGNC:714|Ensembl:ENSG00000113273|AllianceGenome:HGNC:714
5
5q14.1
arylsulfatase B
protein-coding
ARSB
arylsulfatase B
O
arylsulfatase B|N-acetylgalactosamine-4-sulfatase
20240403
-
9606
412
STS
-
ARSC|ARSC1|ASC|ES|SSDD|XLI
MIM:300747|HGNC:HGNC:11425|Ensembl:ENSG00000101846|AllianceGenome:HGNC:11425
X
Xp22.31
steroid sulfatase
protein-coding
STS
steroid sulfatase
O
steryl-sulfatase|arylsulfatase C|estrone sulfatase|steroid sulfatase (microsomal), isozyme S|steryl-sulfate sulfohydrolase
20240403
-
9606
413
ARSC2
-
ARSC
MIM:301780|HGNC:HGNC:716
X
-
arylsulfatase C, isozyme F
unknown
ARSC2
arylsulfatase C, isozyme F
O
Arylsulfatase C, f form
20190815
-
9606
414
ARSD
-
ASD
MIM:300002|HGNC:HGNC:717|Ensembl:ENSG00000006756|AllianceGenome:HGNC:717
X
Xp22.33
arylsulfatase D
protein-coding
ARSD
arylsulfatase D
O
arylsulfatase D|testis tissue sperm-binding protein Li 39a
20240305
-
9606
415
ARSL
-
ARSE|ASE|CDPX|CDPX1|CDPXR
MIM:300180|HGNC:HGNC:719|Ensembl:ENSG00000157399|AllianceGenome:HGNC:719
X
Xp22.33
arylsulfatase L
protein-coding
ARSL
arylsulfatase L
O
arylsulfatase L|arylsulfatase E (chondrodysplasia punctata 1)
20240403
-
9606
416
ARSF
-
ASF
MIM:300003|HGNC:HGNC:721|Ensembl:ENSG00000062096|AllianceGenome:HGNC:721
X
Xp22.33
arylsulfatase F
protein-coding
ARSF
arylsulfatase F
O
arylsulfatase F
20240305
-
9606
417
ART1
-
ART2|ARTC1|CD296|RT6
MIM:601625|HGNC:HGNC:723|Ensembl:ENSG00000129744|AllianceGenome:HGNC:723
11
11p15.4
ADP-ribosyltransferase 1
protein-coding
ART1
ADP-ribosyltransferase 1
O
GPI-linked NAD(P)(+)--arginine ADP-ribosyltransferase 1|ADP-ribosyltransferase 2|ADP-ribosyltransferase C2 and C3 toxin-like 1|mono(ADP-ribosyl)transferase 1
20240323
-
9606
418
ART2P
-
ART1P|ARTC2AP|RT6
HGNC:HGNC:724|AllianceGenome:HGNC:724
11
11q13.4
ADP-ribosyltransferase 2, pseudogene
pseudo
ART2P
ADP-ribosyltransferase 2, pseudogene
O
ADP-ribosyltransferase 2 (RT6 antigen homolog, rat), pseudogene|ADP-ribosyltransferase 2 pseudogene (RT6 antigen homolog, rat)|RT6 antigen homolog
20231010
-
9606
419
ART3
-
ARTC3
MIM:603086|HGNC:HGNC:725|Ensembl:ENSG00000156219|AllianceGenome:HGNC:725
4
4q21.1|4p15.1-p14
ADP-ribosyltransferase 3 (inactive)
protein-coding
ART3
ADP-ribosyltransferase 3 (inactive)
O
ecto-ADP-ribosyltransferase 3|ADP-ribosyltransferase C2 and C3 toxin-like 3|NAD(P)(+)--arginine ADP-ribosyltransferase 3|mono(ADP-ribosyl)transferase 3|mono-ADP-ribosyltransferase
20240403
-
9606
420
ART4
-
ARTC4|CD297|DO|DO/ART4|DOK1
MIM:110600|HGNC:HGNC:726|Ensembl:ENSG00000111339|AllianceGenome:HGNC:726
12
12p12.3
ADP-ribosyltransferase 4 (inactive) (Dombrock blood group)
protein-coding
ART4
ADP-ribosyltransferase 4 (inactive) (Dombrock blood group)
O
ecto-ADP-ribosyltransferase 4|ADP-ribosyltransferase 4 (DO blood group)|ADP-ribosyltransferase 4 (Dombrock blood group)|ADP-ribosyltransferase C2 and C3 toxin-like 4|Do glycoprotein|Dombrock blood group carrier molecule|Dombrock glycoprotein|NAD(+)--protein-arginine ADP-ribosyltransferase 4|NAD(P)(+)--arginine ADP-ribosyltransferase 4|mono-ADP-ribosyltransferase 4
20240305
-
9606
421
ARVCF
-
-
MIM:602269|HGNC:HGNC:728|Ensembl:ENSG00000099889|AllianceGenome:HGNC:728
22
22q11.21
ARVCF delta catenin family member
protein-coding
ARVCF
ARVCF delta catenin family member
O
splicing regulator ARVCF|armadillo repeat gene deleted in velocardiofacial syndrome|armadillo repeat protein deleted in velo-cardio-facial syndrome
20240411
-
9606
424
ARVD3
-
ARVD2
MIM:602086
14
14q12-q22
arrhythmogenic right ventricular dysplasia 3
unknown
-
-
-
-
20191002
-
9606
425
ARVD4
-
-
MIM:602087
2
2q32.1-q32.3
arrhythmogenic right ventricular dysplasia 4
unknown
-
-
-
-
20231008
-
9606
427
ASAH1
-
AC|ACDase|ASAH|PHP|PHP32|SMAPME
MIM:613468|HGNC:HGNC:735|Ensembl:ENSG00000104763|AllianceGenome:HGNC:735
8
8p22
N-acylsphingosine amidohydrolase 1
protein-coding
ASAH1
N-acylsphingosine amidohydrolase 1
O
acid ceramidase|N-acylethanolamine hydrolase ASAH1|N-acylsphingosine amidohydrolase (acid ceramidase) 1|acid CDase|acylsphingosine deacylase|putative 32 kDa heart protein
20240403
-
9606
429
ASCL1
-
ASH1|HASH1|MASH1|bHLHa46
MIM:100790|HGNC:HGNC:738|Ensembl:ENSG00000139352|AllianceGenome:HGNC:738
12
12q23.2
achaete-scute family bHLH transcription factor 1
protein-coding
ASCL1
achaete-scute family bHLH transcription factor 1
O
achaete-scute homolog 1|ASH-1|achaete scute protein|achaete-scute complex homolog 1|achaete-scute complex-like 1|class A basic helix-loop-helix protein 46
20240416
-
9606
430
ASCL2
-
ASH2|HASH2|MASH2|bHLHa45
MIM:601886|HGNC:HGNC:739|Ensembl:ENSG00000183734|AllianceGenome:HGNC:739
11
11p15.5
achaete-scute family bHLH transcription factor 2
protein-coding
ASCL2
achaete-scute family bHLH transcription factor 2
O
achaete-scute homolog 2|achaete-scute complex homolog 2|achaete-scute complex-like 2|class A basic helix-loop-helix protein 45|mammalian achaete/scute homologue 2
20240305
-
9606
431
ASD1
-
-
MIM:108800
5
5p15.31
atrial septal defect 1
unknown
-
-
-
-
20191002
-
9606
432
ASGR1
-
ASGPR|ASGPR1|CLEC4H1|HL-1
MIM:108360|HGNC:HGNC:742|Ensembl:ENSG00000141505|AllianceGenome:HGNC:742
17
17p13.1
asialoglycoprotein receptor 1
protein-coding
ASGR1
asialoglycoprotein receptor 1
O
asialoglycoprotein receptor 1|C-type lectin domain family 4 member H1|hepatic lectin H1
20240425
-
9606
433
ASGR2
-
ASGP-R2|ASGPR2|CLEC4H2|HBXBP|HL-2
MIM:108361|HGNC:HGNC:743|Ensembl:ENSG00000161944|AllianceGenome:HGNC:743
17
17p13.1
asialoglycoprotein receptor 2
protein-coding
ASGR2
asialoglycoprotein receptor 2
O
asialoglycoprotein receptor 2|C-type lectin domain family 4 member H2|HBxAg-binding protein|hepatic lectin H2
20240403
-
9606
434
ASIP
-
AGSW|AGTI|AGTIL|ASP|SHEP9
MIM:600201|HGNC:HGNC:745|Ensembl:ENSG00000101440|AllianceGenome:HGNC:745
20
20q11.22
agouti signaling protein
protein-coding
ASIP
agouti signaling protein
O
agouti-signaling protein|agouti signaling protein, nonagouti homolog|agouti switch protein|nonagouti homolog
20240411
-
9606
435
ASL
-
ASAL
MIM:608310|HGNC:HGNC:746|Ensembl:ENSG00000126522|AllianceGenome:HGNC:746
7
7q11.21
argininosuccinate lyase
protein-coding
ASL
argininosuccinate lyase
O
argininosuccinate lyase|argininosuccinase|arginosuccinase
20240407
-
9606
436
ASLP1
-
ASLL
HGNC:HGNC:747|AllianceGenome:HGNC:747
22
22q11.23
argininosuccinate lyase pseudogene 1
pseudo
ASLP1
argininosuccinate lyase pseudogene 1
O
-
20231010
-
9606
438
ASMT
-
ASMTY|HIOMT|HIOMTY
MIM:300015|MIM:402500|HGNC:HGNC:750|Ensembl:ENSG00000196433|Ensembl:ENSG00000292336|AllianceGenome:HGNC:750
X|Y
X;Y
acetylserotonin O-methyltransferase
protein-coding
ASMT
acetylserotonin O-methyltransferase
O
acetylserotonin O-methyltransferase|acetylserotonin N-methyltransferase|acetylserotonin methyltransferase (Y chromosome)|hydroxyindole O-methyltransferase
20240305
-
9606
439
GET3
-
ARSA-I|ARSA1|ASNA-I|ASNA1|CMD2H|TRC40
MIM:601913|HGNC:HGNC:752|Ensembl:ENSG00000198356|AllianceGenome:HGNC:752
19
19p13.13
guided entry of tail-anchored proteins factor 3, ATPase
protein-coding
GET3
guided entry of tail-anchored proteins factor 3, ATPase
O
ATPase GET3|arsA arsenite transporter, ATP-binding, homolog 1|golgi to ER traffic 3 homolog|transmembrane domain recognition complex 40 kDa ATPase subunit
20240407
-
9606
440
ASNS
-
ASNSD|TS11
MIM:108370|HGNC:HGNC:753|Ensembl:ENSG00000070669|AllianceGenome:HGNC:753
7
7q21.3
asparagine synthetase (glutamine-hydrolyzing)
protein-coding
ASNS
asparagine synthetase (glutamine-hydrolyzing)
O
asparagine synthetase [glutamine-hydrolyzing]|TS11 cell cycle control protein|glutamine-dependent asparagine synthetase
20240407
-
9606
442
ASNSP2
-
ASNSL2
HGNC:HGNC:755|AllianceGenome:HGNC:755
21
21p11.2
ASNS pseudogene 2
pseudo
ASNSP2
ASNS pseudogene 2
O
asparagine synthetase pseudogene 2|asparagine synthetase-like 2
20231010
-
9606
443
ASPA
-
ACY2|ASP
MIM:608034|HGNC:HGNC:756|Ensembl:ENSG00000108381|AllianceGenome:HGNC:756
17
17p13.2
aspartoacylase
protein-coding
ASPA
aspartoacylase
O
aspartoacylase|ACY-2|aminoacylase 2
20240305
-
9606
444
ASPH
-
AAH|BAH|CASQ2BP1|FDLAB|HAAH|JCTN|junctin
MIM:600582|HGNC:HGNC:757|Ensembl:ENSG00000198363|AllianceGenome:HGNC:757
8
8q12.3
aspartate beta-hydroxylase
protein-coding
ASPH
aspartate beta-hydroxylase
O
aspartyl/asparaginyl beta-hydroxylase|A beta H-J-J|ASP beta-hydroxylase|cardiac junctin|humbug|junctate|peptide-aspartate beta-dioxygenase
20240411
-
9606
445
ASS1
-
ASS|CTLN1
MIM:603470|HGNC:HGNC:758|Ensembl:ENSG00000130707|AllianceGenome:HGNC:758
9
9q34.11
argininosuccinate synthase 1
protein-coding
ASS1
argininosuccinate synthase 1
O
argininosuccinate synthase|argininosuccinate synthetase 1|citrulline-aspartate ligase|epididymis secretory sperm binding protein
20240407
-
9606
447
ASS1P2
-
ASSP2
HGNC:HGNC:765|Ensembl:ENSG00000223922|AllianceGenome:HGNC:765
2
2p22.1
argininosuccinate synthetase 1 pseudogene 2
pseudo
ASS1P2
argininosuccinate synthetase 1 pseudogene 2
O
argininosuccinate synthetase pseudogene 2
20231010
-
9606
449
ASS1P4
-
ASSP4
HGNC:HGNC:767|Ensembl:ENSG00000213487|AllianceGenome:HGNC:767
X
Xp22.33
argininosuccinate synthetase 1 pseudogene 4
pseudo
ASS1P4
argininosuccinate synthetase 1 pseudogene 4
O
argininosuccinate synthetase pseudogene 4
20231010
-
9606
450
ASS1P5
-
ASSP5
HGNC:HGNC:768|Ensembl:ENSG00000227881|AllianceGenome:HGNC:768
X
Xq23
argininosuccinate synthetase 1 pseudogene 5
pseudo
ASS1P5
argininosuccinate synthetase 1 pseudogene 5
O
argininosuccinate synthetase pseudogene 5
20231010
-
9606
451
ASS1P6
-
ASSP6
HGNC:HGNC:769|Ensembl:ENSG00000215583|AllianceGenome:HGNC:769
Y
Yq11.21
argininosuccinate synthetase 1 pseudogene 6
pseudo
ASS1P6
argininosuccinate synthetase 1 pseudogene 6
O
argininosuccinate synthetase pseudogene 6
20231010
-
9606
453
ASS1P8
-
ASSP8
HGNC:HGNC:771|AllianceGenome:HGNC:771
4
4q31.23
argininosuccinate synthetase 1 pseudogene 8
pseudo
ASS1P8
argininosuccinate synthetase 1 pseudogene 8
O
argininosuccinate synthetase pseudogene 8
20231010
-
9606
454
ASS1P9
-
ASSP9
HGNC:HGNC:772|Ensembl:ENSG00000217791|AllianceGenome:HGNC:772
5
5q11.2
argininosuccinate synthetase 1 pseudogene 9
pseudo
ASS1P9
argininosuccinate synthetase 1 pseudogene 9
O
argininosuccinate synthetase pseudogene 9
20231010
-
9606
455
ASS1P10
-
ASSP10
HGNC:HGNC:760|Ensembl:ENSG00000215325|AllianceGenome:HGNC:760
5
5q32
argininosuccinate synthetase 1 pseudogene 10
pseudo
ASS1P10
argininosuccinate synthetase 1 pseudogene 10
O
argininosuccinate synthetase pseudogene 10
20231010
-
9606
459
ASS1P14
-
ASSP14
HGNC:HGNC:764|Ensembl:ENSG00000257316|AllianceGenome:HGNC:764
12
12p11.21
argininosuccinate synthetase 1 pseudogene 14
pseudo
ASS1P14
argininosuccinate synthetase 1 pseudogene 14
O
argininosuccinate synthetase pseudogene 14
20231010
-
9606
460
ASTN1
-
ASTN
MIM:600904|HGNC:HGNC:773|Ensembl:ENSG00000152092|AllianceGenome:HGNC:773
1
1q25.2
astrotactin 1
protein-coding
ASTN1
astrotactin 1
O
astrotactin-1
20240411
-
9606
462
SERPINC1
-
AT3|AT3D|ATIII|ATIII-R2|ATIII-T1|ATIII-T2|THPH7
MIM:107300|HGNC:HGNC:775|Ensembl:ENSG00000117601|AllianceGenome:HGNC:775
1
1q25.1
serpin family C member 1
protein-coding
SERPINC1
serpin family C member 1
O
antithrombin-III|serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1|serpin peptidase inhibitor clade C member 1|serpin peptidase inhibitor, clade C (antithrombin), member 1
20240323
-
9606
463
ZFHX3
-
ATBF1|ATBT|ATFB8|C16orf47|SCA4|ZFH-3|ZNF927
MIM:104155|HGNC:HGNC:777|Ensembl:ENSG00000140836|AllianceGenome:HGNC:777
16
16q22.2-q22.3
zinc finger homeobox 3
protein-coding
ZFHX3
zinc finger homeobox 3
O
zinc finger homeobox protein 3|AT motif-binding factor 1|AT-binding transcription factor 1|alpha-fetoprotein enhancer binding protein|zinc finger homeodomain protein 3
20240331
-
9606
465
ATD
-
ATD1
MIM:208500
15
15q13
asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome)
unknown
-
-
-
-
20191002
-
9606
466
ATF1
-
EWS-ATF1|FUS/ATF-1|TREB36
MIM:123803|HGNC:HGNC:783|Ensembl:ENSG00000123268|AllianceGenome:HGNC:783
12
12q13.12
activating transcription factor 1
protein-coding
ATF1
activating transcription factor 1
O
cyclic AMP-dependent transcription factor ATF-1|cAMP-dependent transcription factor ATF-1
20240403
-
9606
467
ATF3
-
-
MIM:603148|HGNC:HGNC:785|Ensembl:ENSG00000162772|AllianceGenome:HGNC:785
1
1q32.3
activating transcription factor 3
protein-coding
ATF3
activating transcription factor 3
O
cyclic AMP-dependent transcription factor ATF-3|cAMP-dependent transcription factor ATF-3
20240430
-
9606
468
ATF4
-
CREB-2|CREB2|TAXREB67|TXREB
MIM:604064|HGNC:HGNC:786|Ensembl:ENSG00000128272|AllianceGenome:HGNC:786
22
22q13.1
activating transcription factor 4
protein-coding
ATF4
activating transcription factor 4
O
cyclic AMP-dependent transcription factor ATF-4|DNA-binding protein TAXREB67|cAMP response element-binding protein 2|cAMP-dependent transcription factor ATF-4|cAMP-responsive element-binding protein 2|cyclic AMP-responsive element-binding protein 2|tax-responsive enhancer element B67|tax-responsive enhancer element-binding protein 67
20240430
-
9606
469
ATF4P1
-
ATF4P|TAXREB67P|TXREBP
HGNC:HGNC:789|AllianceGenome:HGNC:789
X
Xq28
activating transcription factor 4 pseudogene 1
pseudo
ATF4P1
activating transcription factor 4 pseudogene 1
O
activating transcription factor 4 (tax-responsive enhancer element B67) pseudogene|activating transcription factor 4 pseudogene (tax-responsive enhancer element B67 pseudogene)|cyclic-AMP-dependent transcription factor ATF-4 pseudogene
20231010
-
9606
470
ATHS
-
ALP
MIM:108725
19
19p13.3-p13.2
atherosclerosis susceptibility (lipoprotein associated)
unknown
-
-
-
-
20191002
-
9606
471
ATIC
-
AICAR|AICARFT|HEL-S-70p|IMPCHASE|PURH
MIM:601731|HGNC:HGNC:794|Ensembl:ENSG00000138363|AllianceGenome:HGNC:794
2
2q35
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
protein-coding
ATIC
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
O
bifunctional purine biosynthesis protein ATIC|5-aminoimidazole-4-carboxamide-1-beta-D-ribonucleotide transformylase/inosinicase|AICAR formyltransferase/IMP cyclohydrolase bifunctional enzyme|AICAR transformylase/inosine monophosphate cyclohydrolase|AICARFT/IMPCHASE|bifunctional purine biosynthesis protein PURH|epididymis secretory sperm binding protein Li 70p|phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase
20240407
-
9606
472
ATM
-
AT1|ATA|ATC|ATD|ATDC|ATE|TEL1|TELO1
MIM:607585|HGNC:HGNC:795|Ensembl:ENSG00000149311|AllianceGenome:HGNC:795
11
11q22.3
ATM serine/threonine kinase
protein-coding
ATM
ATM serine/threonine kinase
O
serine-protein kinase ATM|A-T mutated|AT mutated|TEL1, telomere maintenance 1, homolog|ataxia telangiectasia mutated|serine/threonine kinase ATM
20240413
-
9606
473
RERE
-
ARG|ARP|ATN1L|DNB1|NEDBEH
MIM:605226|HGNC:HGNC:9965|Ensembl:ENSG00000142599|AllianceGenome:HGNC:9965
1
1p36.23
arginine-glutamic acid dipeptide repeats
protein-coding
RERE
arginine-glutamic acid dipeptide repeats
O
arginine-glutamic acid dipeptide repeats protein|arginine-glutamic acid dipeptide (RE) repeats|atrophin 2|atrophin-1 like protein|atrophin-1 related protein
20240305
-
9606
474
ATOH1
-
ATH1|DFNA89|HATH1|MATH-1|bHLHa14
MIM:601461|HGNC:HGNC:797|Ensembl:ENSG00000172238|AllianceGenome:HGNC:797
4
4q22.2
atonal bHLH transcription factor 1
protein-coding
ATOH1
atonal bHLH transcription factor 1
O
transcription factor ATOH1|atonal homolog 1|atonal homolog bHLH transcription factor 1|basic helix-loop-helix family member a14|class A basic helix-loop-helix protein 14|helix-loop-helix protein hATH-1|protein atonal homolog 1
20240305
-
9606
475
ATOX1
-
ATX1|HAH1
MIM:602270|HGNC:HGNC:798|Ensembl:ENSG00000177556|AllianceGenome:HGNC:798
5
5q33.1
antioxidant 1 copper chaperone
protein-coding
ATOX1
antioxidant 1 copper chaperone
O
copper transport protein ATOX1|ATX1 antioxidant protein 1 homolog|metal transport protein ATX1
20240305
-
9606
476
ATP1A1
-
CMT2DD|HOMGSMR2
MIM:182310|HGNC:HGNC:799|Ensembl:ENSG00000163399|AllianceGenome:HGNC:799
1
1p13.1
ATPase Na+/K+ transporting subunit alpha 1
protein-coding
ATP1A1
ATPase Na+/K+ transporting subunit alpha 1
O
sodium/potassium-transporting ATPase subunit alpha-1|ATPase, Na+/K+ transporting, alpha 1 polypeptide|Na(+)/K(+) ATPase alpha-1 subunit|Na+/K+ ATPase 1|Na, K-ATPase, alpha-A catalytic polypeptide|Na,K-ATPase alpha-1 subunit|Na,K-ATPase catalytic subunit alpha-A protein|sodium pump subunit alpha-1|sodium-potassium ATPase catalytic subunit alpha-1|sodium-potassium-ATPase, alpha 1 polypeptide
20240411
-
9606
477
ATP1A2
-
DEE98|FARIMPD|FHM2|MHP2
MIM:182340|HGNC:HGNC:800|Ensembl:ENSG00000018625|AllianceGenome:HGNC:800
1
1q23.2
ATPase Na+/K+ transporting subunit alpha 2
protein-coding
ATP1A2
ATPase Na+/K+ transporting subunit alpha 2
O
sodium/potassium-transporting ATPase subunit alpha-2|ATPase Na+/K+ transporting alpha 2 polypeptide|Na(+)/K(+) ATPase alpha-2 subunit|Na+/K+ ATPase, alpha-A(+) catalytic polypeptide|Na+/K+ ATPase, alpha-B polypeptide|sodium pump subunit alpha-2|sodium-potassium ATPase catalytic subunit alpha-2|sodium/potassium-transporting ATPase alpha-2 chain
20240411
-
9606
478
ATP1A3
-
AHC2|ATP1A1|CAPOS|DEE99|DYT12|RDP
MIM:182350|HGNC:HGNC:801|Ensembl:ENSG00000105409|AllianceGenome:HGNC:801
19
19q13.2
ATPase Na+/K+ transporting subunit alpha 3
protein-coding
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3
O
sodium/potassium-transporting ATPase subunit alpha-3|ATPase, Na+/K+ transporting, alpha 3 polypeptide|Na(+)/K(+) ATPase alpha(III) subunit|Na(+)/K(+) ATPase alpha-3 subunit|Na+, K+ activated adenosine triphosphatase alpha subunit|Na+/K+ ATPase 3|sodium pump subunit alpha-3|sodium-potassium ATPase catalytic subunit alpha-3|sodium-potassium-ATPase, alpha 3 polypeptide|sodium/potassium-transporting ATPase alpha-3 chain
20240407
-