#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
1
A1BG
-
A1B|ABG|GAB|HYST2477
MIM:138670|HGNC:HGNC:5|Ensembl:ENSG00000121410|AllianceGenome:HGNC:5
19
19q13.43
alpha-1-B glycoprotein
protein-coding
A1BG
alpha-1-B glycoprotein
O
alpha-1B-glycoprotein|HEL-S-163pA|epididymis secretory sperm binding protein Li 163pA
20240411
-
9606
2
A2M
-
A2MD|CPAMD5|FWP007|S863-7
MIM:103950|HGNC:HGNC:7|Ensembl:ENSG00000175899|AllianceGenome:HGNC:7
12
12p13.31
alpha-2-macroglobulin
protein-coding
A2M
alpha-2-macroglobulin
O
alpha-2-macroglobulin|C3 and PZP-like alpha-2-macroglobulin domain-containing protein 5|alpha-2-M
20240416
-
9606
3
A2MP1
-
A2MP
HGNC:HGNC:8|Ensembl:ENSG00000291190|AllianceGenome:HGNC:8
12
12p13.31
alpha-2-macroglobulin pseudogene 1
pseudo
A2MP1
alpha-2-macroglobulin pseudogene 1
O
pregnancy-zone protein pseudogene
20231010
-
9606
9
NAT1
-
AAC1|MNAT|NAT-1|NATI
MIM:108345|HGNC:HGNC:7645|Ensembl:ENSG00000171428|AllianceGenome:HGNC:7645
8
8p22
N-acetyltransferase 1
protein-coding
NAT1
N-acetyltransferase 1
O
arylamine N-acetyltransferase 1|N-acetyltransferase 1 (arylamine N-acetyltransferase)|N-acetyltransferase type 1|arylamide acetylase 1|monomorphic arylamine N-acetyltransferase
20240403
-
9606
10
NAT2
-
AAC2|NAT-2|PNAT
MIM:612182|HGNC:HGNC:7646|Ensembl:ENSG00000156006|AllianceGenome:HGNC:7646
8
8p22
N-acetyltransferase 2
protein-coding
NAT2
N-acetyltransferase 2
O
arylamine N-acetyltransferase 2|N-acetyltransferase 2 (arylamine N-acetyltransferase)|N-acetyltransferase type 2|arylamide acetylase 2
20240403
-
9606
11
NATP
-
AACP|NATP1
HGNC:HGNC:15|AllianceGenome:HGNC:15
8
8p22
N-acetyltransferase pseudogene
pseudo
NATP
N-acetyltransferase pseudogene
O
arylamide acetylase pseudogene
20231010
-
9606
12
SERPINA3
-
AACT|ACT|GIG24|GIG25
MIM:107280|HGNC:HGNC:16|Ensembl:ENSG00000196136|AllianceGenome:HGNC:16
14
14q32.13
serpin family A member 3
protein-coding
SERPINA3
serpin family A member 3
O
alpha-1-antichymotrypsin|cell growth-inhibiting gene 24/25 protein|growth-inhibiting protein 24|growth-inhibiting protein 25|serine (or cysteine) proteinase inhibitor, clade A, member 3|serpin A3|serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
20240317
-
9606
13
AADAC
-
CES5A1|DAC
MIM:600338|HGNC:HGNC:17|Ensembl:ENSG00000114771|AllianceGenome:HGNC:17
3
3q25.1
arylacetamide deacetylase
protein-coding
AADAC
arylacetamide deacetylase
O
arylacetamide deacetylase|arylacetamide deacetylase (esterase)
20240302
-
9606
14
AAMP
-
-
MIM:603488|HGNC:HGNC:18|Ensembl:ENSG00000127837|AllianceGenome:HGNC:18
2
2q35
angio associated migratory cell protein
protein-coding
AAMP
angio associated migratory cell protein
O
angio-associated migratory cell protein
20240407
-
9606
15
AANAT
-
DSPS|SNAT
MIM:600950|HGNC:HGNC:19|Ensembl:ENSG00000129673|AllianceGenome:HGNC:19
17
17q25.1
aralkylamine N-acetyltransferase
protein-coding
AANAT
aralkylamine N-acetyltransferase
O
serotonin N-acetyltransferase|arylalkylamine N-acetyltransferase|serotonin acetylase
20240302
-
9606
16
AARS1
-
AARS|CMT2N|DEE29|EIEE29|HDLS2|TTD8
MIM:601065|HGNC:HGNC:20|Ensembl:ENSG00000090861|AllianceGenome:HGNC:20
16
16q22.1
alanyl-tRNA synthetase 1
protein-coding
AARS1
alanyl-tRNA synthetase 1
O
alanine--tRNA ligase, cytoplasmic|alaRS|alanine tRNA ligase 1, cytoplasmic|alanyl-tRNA synthetase, cytoplasmic|renal carcinoma antigen NY-REN-42
20240407
-
9606
17
AAVS1
-
AAV
MIM:102699|HGNC:HGNC:22
19
19q13|19q13-qter
adeno-associated virus integration site 1
other
AAVS1
adeno-associated virus integration site 1
O
-
20190324
-
9606
18
ABAT
-
GABA-AT|GABAT|NPD009
MIM:137150|HGNC:HGNC:23|Ensembl:ENSG00000183044|AllianceGenome:HGNC:23
16
16p13.2
4-aminobutyrate aminotransferase
protein-coding
ABAT
4-aminobutyrate aminotransferase
O
4-aminobutyrate aminotransferase, mitochondrial|(S)-3-amino-2-methylpropionate transaminase|4-aminobutyrate transaminase|GABA aminotransferase|GABA transaminase|GABA transferase|gamma-amino-N-butyrate transaminase|gamma-aminobutyrate aminotransferase
20240403
-
9606
19
ABCA1
-
ABC-1|ABC1|CERP|HDLCQTL13|HDLDT1|HPALP1|TGD
MIM:600046|HGNC:HGNC:29|Ensembl:ENSG00000165029|AllianceGenome:HGNC:29
9
9q31.1
ATP binding cassette subfamily A member 1
protein-coding
ABCA1
ATP binding cassette subfamily A member 1
O
phospholipid-transporting ATPase ABCA1|ATP-binding cassette sub-family A member 1|ATP-binding cassette transporter A1|ATP-binding cassette, sub-family A (ABC1), member 1|cholesterol efflux regulatory protein|membrane-bound
20240317
-
9606
20
ABCA2
-
ABC2|IDPOGSA
MIM:600047|HGNC:HGNC:32|Ensembl:ENSG00000107331|AllianceGenome:HGNC:32
9
9q34.3
ATP binding cassette subfamily A member 2
protein-coding
ABCA2
ATP binding cassette subfamily A member 2
O
ATP-binding cassette sub-family A member 2|ATP-binding cassette 2|ATP-binding cassette transporter 2|ATP-binding cassette, sub-family A (ABC1), member 2|ATP-binding cassette, sub-family A, member 2
20240403
-
9606
21
ABCA3
-
ABC-C|ABC3|EST111653|LBM180|SMDP3
MIM:601615|HGNC:HGNC:33|Ensembl:ENSG00000167972|AllianceGenome:HGNC:33
16
16p13.3
ATP binding cassette subfamily A member 3
protein-coding
ABCA3
ATP binding cassette subfamily A member 3
O
phospholipid-transporting ATPase ABCA3|ABC transporter 3|ABC-C transporter|ATP-binding cassette sub-family A member 3|ATP-binding cassette transporter 3|ATP-binding cassette, sub-family A (ABC1), member 3|xenobiotic-transporting ATPase ABCA3
20240407
-
9606
22
ABCB7
-
ABC7|ASAT|Atm1p|EST140535
MIM:300135|HGNC:HGNC:48|Ensembl:ENSG00000131269|AllianceGenome:HGNC:48
X
Xq13.3
ATP binding cassette subfamily B member 7
protein-coding
ABCB7
ATP binding cassette subfamily B member 7
O
iron-sulfur clusters transporter ABCB7, mitochondrial|ABC transporter 7 protein|ATP-binding cassette sub-family B member 7, mitochondrial|ATP-binding cassette transporter 7|ATP-binding cassette, sub-family B (MDR/TAP), member 7
20240303
-
9606
23
ABCF1
-
ABC27|ABC50
MIM:603429|HGNC:HGNC:70|Ensembl:ENSG00000204574|AllianceGenome:HGNC:70
6
6p21.33
ATP binding cassette subfamily F member 1
protein-coding
ABCF1
ATP binding cassette subfamily F member 1
O
ATP-binding cassette sub-family F member 1|ATP-binding cassette 50 (TNF-alpha stimulated)|ATP-binding cassette, sub-family F (GCN20), member 1|TNF-alpha-stimulated ABC protein|TNFalpha-inducible ATP-binding protein
20240407
-
9606
24
ABCA4
-
ABC10|ABCR|ARMD2|CORD3|FFM|RMP|RP19|STGD|STGD1
MIM:601691|HGNC:HGNC:34|Ensembl:ENSG00000198691|AllianceGenome:HGNC:34
1
1p22.1
ATP binding cassette subfamily A member 4
protein-coding
ABCA4
ATP binding cassette subfamily A member 4
O
retinal-specific phospholipid-transporting ATPase ABCA4|ATP binding cassette transporter|ATP-binding cassette sub-family A member 4|ATP-binding cassette transporter, retinal-specific|ATP-binding cassette, sub-family A (ABC1), member 4|ATP-binding transporter, retina-specific|RIM ABC transporter|RIM protein|RIM proteinv|photoreceptor rim protein|retina-specific ABC transporter|retinal-specific ATP-binding cassette transporter|stargardt disease protein
20240416
-
9606
25
ABL1
-
ABL|BCR-ABL|CHDSKM|JTK7|bcr/abl|c-ABL|c-ABL1|p150|v-abl
MIM:189980|HGNC:HGNC:76|Ensembl:ENSG00000097007|AllianceGenome:HGNC:76
9
9q34.12
ABL proto-oncogene 1, non-receptor tyrosine kinase
protein-coding
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase
O
tyrosine-protein kinase ABL1|ABL protooncogene 1 nonreceptor tyrosine kinase|Abelson tyrosine-protein kinase 1|BCR-ABL1 p190|BCR/ABL e8a2 fusion|BCR/ABL1 e1a2 fusion protein|bcr/c-abl oncogene protein|c-abl oncogene 1, receptor tyrosine kinase|proto-oncogene c-Abl|proto-oncogene tyrosine-protein kinase ABL1|v-abl Abelson murine leukemia viral oncogene homolog 1
20240416
-
9606
26
AOC1
-
ABP|ABP1|DAO|DAO1|KAO|KDAO
MIM:104610|HGNC:HGNC:80|Ensembl:ENSG00000002726|AllianceGenome:HGNC:80
7
7q36.1
amine oxidase copper containing 1
protein-coding
AOC1
amine oxidase copper containing 1
O
diamine oxidase [copper-containing]|amiloride-sensitive amine oxidase [copper-containing]|amiloride binding protein 1 (amine oxidase (copper-containing))|amiloride-binding protein 1|amiloride-sensitive amine oxidase|amine oxidase copper domain-containing protein 1|diamine oxidase|histaminase|kidney amine oxidase
20240420
-
9606
27
ABL2
-
ABLL|ARG
MIM:164690|HGNC:HGNC:77|Ensembl:ENSG00000143322|AllianceGenome:HGNC:77
1
1q25.2
ABL proto-oncogene 2, non-receptor tyrosine kinase
protein-coding
ABL2
ABL proto-oncogene 2, non-receptor tyrosine kinase
O
tyrosine-protein kinase ABL2|Abelson tyrosine-protein kinase 2|abelson-related gene protein|c-abl oncogene 2, non-receptor tyrosine kinase|tyrosine-protein kinase ARG|v-abl Abelson murine leukemia viral oncogene homolog 2
20240411
-
9606
28
ABO
-
A3GALNT|A3GALT1|GTB|NAGAT
MIM:110300|HGNC:HGNC:79|Ensembl:ENSG00000175164|AllianceGenome:HGNC:79
9
9q34.2
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
protein-coding
ABO
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
O
histo-blood group ABO system transferase|ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)|B(A) alpha-1,3-galactosyltransferase|histo-blood group A2 transferase
20240403
-
9606
29
ABR
-
MDB
MIM:600365|HGNC:HGNC:81|Ensembl:ENSG00000159842|AllianceGenome:HGNC:81
17
17p13.3
ABR activator of RhoGEF and GTPase
protein-coding
ABR
ABR activator of RhoGEF and GTPase
O
active breakpoint cluster region-related protein|ABR, RhoGEF and GTPase activating protein|active BCR-related
20240302
-
9606
30
ACAA1
-
ACAA|Lnc-Myd88|PTHIO|THIO
MIM:604054|HGNC:HGNC:82|Ensembl:ENSG00000060971|AllianceGenome:HGNC:82
3
3p22.2
acetyl-CoA acyltransferase 1
protein-coding
ACAA1
acetyl-CoA acyltransferase 1
O
3-ketoacyl-CoA thiolase, peroxisomal|acetyl-CoA C-myristoyltransferase|acetyl-Coenzyme A acyltransferase 1|beta-ketothiolase|epididymis secretory sperm binding protein|peroxisomal 3-oxoacyl-CoA thiolase|peroxisomal 3-oxoacyl-Coenzyme A thiolase|testicular tissue protein Li 197
20240403
-
9606
31
ACACA
-
ACAC|ACACAD|ACACalpha|ACC|ACC1|ACCA|ACCalpha|Acac1|hACC1
MIM:200350|HGNC:HGNC:84|Ensembl:ENSG00000278540|AllianceGenome:HGNC:84
17
17q12
acetyl-CoA carboxylase alpha
protein-coding
ACACA
acetyl-CoA carboxylase alpha
O
acetyl-CoA carboxylase 1|ACC-alpha|acetyl-Coenzyme A carboxylase alpha
20240407
-
9606
32
ACACB
-
ACACbeta|ACC-beta|ACC2|ACCB|ACCbeta|HACC275
MIM:601557|HGNC:HGNC:85|Ensembl:ENSG00000076555|AllianceGenome:HGNC:85
12
12q24.11
acetyl-CoA carboxylase beta
protein-coding
ACACB
acetyl-CoA carboxylase beta
O
acetyl-CoA carboxylase 2|acetyl-Coenzyme A carboxylase beta
20240407
-
9606
33
ACADL
-
ACAD4|LCAD
MIM:609576|HGNC:HGNC:88|Ensembl:ENSG00000115361|AllianceGenome:HGNC:88
2
2q34
acyl-CoA dehydrogenase long chain
protein-coding
ACADL
acyl-CoA dehydrogenase long chain
O
long-chain specific acyl-CoA dehydrogenase, mitochondrial|acyl-Coenzyme A dehydrogenase, long chain|long-chain acyl-CoA dehydrogenase
20240302
-
9606
34
ACADM
-
ACAD1|MCAD|MCADH
MIM:607008|HGNC:HGNC:89|Ensembl:ENSG00000117054|AllianceGenome:HGNC:89
1
1p31.1
acyl-CoA dehydrogenase medium chain
protein-coding
ACADM
acyl-CoA dehydrogenase medium chain
O
medium-chain specific acyl-CoA dehydrogenase, mitochondrial|acyl-CoA dehydrogenase, C-4 to C-12 straight chain|acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain|medium-chain acyl-CoA dehydrogenase|testicular tissue protein Li 7
20240302
-
9606
35
ACADS
-
ACAD3|SCAD
MIM:606885|HGNC:HGNC:90|Ensembl:ENSG00000122971|AllianceGenome:HGNC:90
12
12q24.31
acyl-CoA dehydrogenase short chain
protein-coding
ACADS
acyl-CoA dehydrogenase short chain
O
short-chain specific acyl-CoA dehydrogenase, mitochondrial|acyl-CoA dehydrogenase, C-2 to C-3 short chain|acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain|butyryl-CoA dehydrogenase|epididymis secretory sperm binding protein|mitochondrial short-chain specific acyl-CoA dehydrogenase|unsaturated acyl-CoA reductase
20240302
-
9606
36
ACADSB
-
2-MEBCAD|ACAD7|SBCAD
MIM:600301|HGNC:HGNC:91|Ensembl:ENSG00000196177|AllianceGenome:HGNC:91
10
10q26.13
acyl-CoA dehydrogenase short/branched chain
protein-coding
ACADSB
acyl-CoA dehydrogenase short/branched chain
O
short/branched chain specific acyl-CoA dehydrogenase, mitochondrial|2-methyl branched chain acyl-CoA dehydrogenase|2-methylbutyryl-coenzyme A dehydrogenase|acyl-Coenzyme A dehydrogenase, short/branched chain
20240302
-
9606
37
ACADVL
-
ACAD6|LCACD|VLCAD
MIM:609575|HGNC:HGNC:92|Ensembl:ENSG00000072778|AllianceGenome:HGNC:92
17
17p13.1
acyl-CoA dehydrogenase very long chain
protein-coding
ACADVL
acyl-CoA dehydrogenase very long chain
O
very long-chain specific acyl-CoA dehydrogenase, mitochondrial|acyl-Coenzyme A dehydrogenase, very long chain
20240407
-
9606
38
ACAT1
-
ACAT|MAT|T2|THIL
MIM:607809|HGNC:HGNC:93|Ensembl:ENSG00000075239|AllianceGenome:HGNC:93
11
11q22.3
acetyl-CoA acetyltransferase 1
protein-coding
ACAT1
acetyl-CoA acetyltransferase 1
O
acetyl-CoA acetyltransferase, mitochondrial|acetoacetyl Coenzyme A thiolase|acetoacetyl-CoA thiolase|acetyl-Coenzyme A acetyltransferase 1|mitochondrial acetoacetyl-CoA thiolase|testicular tissue protein Li 198
20240407
-
9606
39
ACAT2
-
-
MIM:100678|HGNC:HGNC:94|Ensembl:ENSG00000120437|AllianceGenome:HGNC:94
6
6q25.3
acetyl-CoA acetyltransferase 2
protein-coding
ACAT2
acetyl-CoA acetyltransferase 2
O
acetyl-CoA acetyltransferase, cytosolic|acetoacetyl Coenzyme A thiolase|acetyl-CoA transferase-like protein|cytosolic acetoacetyl-CoA thiolase
20240304
-
9606
40
ASIC2
-
ACCN|ACCN1|ASIC2a|BNC1|BNaC1|MDEG|hBNaC1
MIM:601784|HGNC:HGNC:99|Ensembl:ENSG00000108684|AllianceGenome:HGNC:99
17
17q11.2-q12
acid sensing ion channel subunit 2
protein-coding
ASIC2
acid sensing ion channel subunit 2
O
acid-sensing ion channel 2|acid sensing (proton gated) ion channel 2|amiloride-sensitive cation channel 1, neuronal|brain Na+ channel-1|brain sodium channel 1|mammalian degenerin homolog|neuronal amiloride-sensitive cation channel 1
20240411
-
9606
41
ASIC1
-
ACCN2|ASIC|BNaC2
MIM:602866|HGNC:HGNC:100|Ensembl:ENSG00000110881|AllianceGenome:HGNC:100
12
12q13.12
acid sensing ion channel subunit 1
protein-coding
ASIC1
acid sensing ion channel subunit 1
O
acid-sensing ion channel 1|Cation channel, amiloride-sensitive, neuronal, 2|acid sensing (proton gated) ion channel 1|acid-sensing ion channel 1a protein|amiloride-sensitive cation channel 2, neuronal|brain sodium channel 2
20240411
-
9606
43
ACHE
-
ACEE|ARACHE|N-ACHE|YT
MIM:100740|HGNC:HGNC:108|Ensembl:ENSG00000087085|AllianceGenome:HGNC:108
7
7q22.1
acetylcholinesterase (Yt blood group)
protein-coding
ACHE
acetylcholinesterase (Yt blood group)
O
acetylcholinesterase|Yt blood group|acetylcholinesterase (Cartwright blood group)|apoptosis-related acetylcholinesterase
20240411
-
9606
46
ACLS
-
-
MIM:200990
12
12p13.3-p11.2
acrocallosal syndrome
unknown
-
-
-
-
20191002
-
9606
47
ACLY
-
ACL|ATPCL|CLATP
MIM:108728|HGNC:HGNC:115|Ensembl:ENSG00000131473|AllianceGenome:HGNC:115
17
17q21.2
ATP citrate lyase
protein-coding
ACLY
ATP citrate lyase
O
ATP-citrate synthase|ATP-citrate (pro-S-)-lyase|citrate cleavage enzyme
20240407
-
9606
48
ACO1
-
ACONS|HEL60|IREB1|IREBP|IREBP1|IRP1
MIM:100880|HGNC:HGNC:117|Ensembl:ENSG00000122729|AllianceGenome:HGNC:117
9
9p21.1
aconitase 1
protein-coding
ACO1
aconitase 1
O
cytoplasmic aconitate hydratase|aconitase 1, soluble|aconitate hydratase, cytoplasmic|citrate hydro-lyase|cytoplasmic aconitase|cytosplasmic aconitase|epididymis luminal protein 60|epididymis secretory sperm binding protein|ferritin repressor protein|iron regulatory protein 1|iron-responsive element-binding protein 1|soluble aconitase
20240403
-
9606
49
ACR
-
SPGF87
MIM:102480|HGNC:HGNC:126|Ensembl:ENSG00000100312|AllianceGenome:HGNC:126
22
22q13.33
acrosin
protein-coding
ACR
acrosin
O
acrosin|acrosin light and heavy chain prepropeptide|preproacrosin|proacrosin
20240413
-
9606
50
ACO2
-
ACONM|HEL-S-284|ICRD|OCA8|OPA9
MIM:100850|HGNC:HGNC:118|Ensembl:ENSG00000100412|AllianceGenome:HGNC:118
22
22q13.2
aconitase 2
protein-coding
ACO2
aconitase 2
O
aconitate hydratase, mitochondrial|aconitase 2, mitochondrial|citrate hydro-lyase|epididymis secretory sperm binding protein Li 284|mitochondrial aconitase
20240407
-
9606
51
ACOX1
-
ACOX|AOX|MITCH|PALMCOX|SCOX
MIM:609751|HGNC:HGNC:119|Ensembl:ENSG00000161533|AllianceGenome:HGNC:119
17
17q25.1
acyl-CoA oxidase 1
protein-coding
ACOX1
acyl-CoA oxidase 1
O
peroxisomal acyl-coenzyme A oxidase 1|acyl-CoA oxidase 1, palmitoyl|acyl-CoA oxidase, straight-chain|acyl-Coenzyme A oxidase 1, palmitoyl|palmitoyl-CoA oxidase|peroxisomal fatty acyl-CoA oxidase|straight-chain acyl-CoA oxidase
20240403
-
9606
52
ACP1
-
HAAP|LMW-PTP|LMWPTP
MIM:171500|HGNC:HGNC:122|Ensembl:ENSG00000143727|AllianceGenome:HGNC:122
2
2p25.3
acid phosphatase 1
protein-coding
ACP1
acid phosphatase 1
O
low molecular weight phosphotyrosine protein phosphatase|LMW-PTPase|acid phosphatase 1, soluble|acid phosphatase of erythrocyte|adipocyte acid phosphatase|cytoplasmic phosphotyrosyl protein phosphatase|low molecular weight cytosolic acid phosphatase|protein tyrosine phosphatase|red cell acid phosphatase 1|testicular secretory protein Li 37
20240303
-
9606
53
ACP2
-
LAP
MIM:171650|HGNC:HGNC:123|Ensembl:ENSG00000134575|AllianceGenome:HGNC:123
11
11p11.2|11p12-p11
acid phosphatase 2, lysosomal
protein-coding
ACP2
acid phosphatase 2, lysosomal
O
lysosomal acid phosphatase
20240302
-
9606
54
ACP5
-
HPAP|TRACP5a|TRACP5b|TRAP|TRAcP|TrATPase
MIM:171640|HGNC:HGNC:124|Ensembl:ENSG00000102575|AllianceGenome:HGNC:124
19
19p13.2
acid phosphatase 5, tartrate resistant
protein-coding
ACP5
acid phosphatase 5, tartrate resistant
O
tartrate-resistant acid phosphatase type 5|human purple acid phosphatase|tartrate-resistant acid ATPase|tartrate-resistant acid phosphatase 5a|tartrate-resistant acid phosphatase 5b
20240403
-
9606
55
ACP3
-
5'-NT|ACP-3|ACPP|TM-PAP
MIM:171790|HGNC:HGNC:125|Ensembl:ENSG00000014257|AllianceGenome:HGNC:125
3
3q22.1
acid phosphatase 3
protein-coding
ACP3
acid phosphatase 3
O
prostatic acid phosphatase|TMPase|acid phosphatase, prostate|ecto-5'-nucleotidase|prostatic acid phosphotase|protein tyrosine phosphatase ACP3|thiamine monophosphatase
20240304
-
9606
56
ACRV1
-
D11S4365|SP-10|SPACA2
MIM:102525|HGNC:HGNC:127|Ensembl:ENSG00000134940|AllianceGenome:HGNC:127
11
11q24.2
acrosomal vesicle protein 1
protein-coding
ACRV1
acrosomal vesicle protein 1
O
acrosomal protein SP-10|sperm protein 10
20240302
-
9606
58
ACTA1
-
ACTA|ASMA|CFTD|CFTD1|CFTDM|CMYP2A|CMYP2B|CMYP2C|MPFD|NEM1|NEM2|NEM3|SHPM
MIM:102610|HGNC:HGNC:129|Ensembl:ENSG00000143632|AllianceGenome:HGNC:129
1
1q42.13
actin alpha 1, skeletal muscle
protein-coding
ACTA1
actin alpha 1, skeletal muscle
O
actin, alpha skeletal muscle|nemaline myopathy type 3
20240425
-
9606
59
ACTA2
-
ACTSA|SMDYS
MIM:102620|HGNC:HGNC:130|Ensembl:ENSG00000107796|AllianceGenome:HGNC:130
10
10q23.31
actin alpha 2, smooth muscle
protein-coding
ACTA2
actin alpha 2, smooth muscle
O
actin, aortic smooth muscle|actin, alpha 2, smooth muscle, aorta|alpha-cardiac actin|cell growth-inhibiting gene 46 protein
20240411
-
9606
60
ACTB
-
BKRNS|BNS|BRWS1|CSMH|DDS1|PS1TP5BP1|THC8
MIM:102630|HGNC:HGNC:132|Ensembl:ENSG00000075624|AllianceGenome:HGNC:132
7
7p22.1
actin beta
protein-coding
ACTB
actin beta
O
actin, cytoplasmic 1|I(2)-actin|PS1TP5-binding protein 1|beta cytoskeletal actin
20240411
-
9606
62
ACTBP2
-
-
HGNC:HGNC:135|AllianceGenome:HGNC:135
5
5q14.1
ACTB pseudogene 2
pseudo
ACTBP2
ACTB pseudogene 2
O
actin, beta pseudogene 2
20231010
-
9606
63
ACTBP3
-
-
HGNC:HGNC:136|AllianceGenome:HGNC:136
18
18q21.32
ACTB pseudogene 3
pseudo
ACTBP3
ACTB pseudogene 3
O
actin, beta pseudogene 3
20231010
-
9606
64
ACTBP4
-
-
HGNC:HGNC:137|AllianceGenome:HGNC:137
5
5q31.1
ACTB pseudogene 4
pseudo
ACTBP4
ACTB pseudogene 4
O
actin, beta pseudogene 4
20231010
-
9606
66
ACTBP6
-
H8-PSI-BETA-AC3
HGNC:HGNC:139|AllianceGenome:HGNC:139
8
8q21.2
ACTB pseudogene 6
pseudo
ACTBP6
ACTB pseudogene 6
O
actin, beta pseudogene 6|actin, gamma 1 pseudogene
20231010
-
9606
67
ACTBP7
-
-
HGNC:HGNC:140|AllianceGenome:HGNC:140
15
15q15.3
ACTB pseudogene 7
pseudo
ACTBP7
ACTB pseudogene 7
O
actin, beta pseudogene 7
20231010
-
9606
68
ACTBP8
-
ACTBP2
HGNC:HGNC:141|AllianceGenome:HGNC:141
6
6q15
ACTB pseudogene 8
pseudo
ACTBP8
ACTB pseudogene 8
O
actin, beta pseudogene 8
20231010
-
9606
69
ACTBP9
-
-
HGNC:HGNC:142|AllianceGenome:HGNC:142
18
18q21.33
ACTB pseudogene 9
pseudo
ACTBP9
ACTB pseudogene 9
O
actin, beta pseudogene 9
20231010
-
9606
70
ACTC1
-
ACTC|ASD5|CMD1R|CMH11|LVNC4
MIM:102540|HGNC:HGNC:143|Ensembl:ENSG00000159251|AllianceGenome:HGNC:143
15
15q14
actin alpha cardiac muscle 1
protein-coding
ACTC1
actin alpha cardiac muscle 1
O
actin, alpha cardiac muscle 1
20240411
-
9606
71
ACTG1
-
ACT|ACTG|DFNA20|DFNA26|HEL-176
MIM:102560|HGNC:HGNC:144|Ensembl:ENSG00000184009|AllianceGenome:HGNC:144
17
17q25.3
actin gamma 1
protein-coding
ACTG1
actin gamma 1
O
actin, cytoplasmic 2|cytoskeletal gamma-actin|epididymis luminal protein 176
20240411
-
9606
72
ACTG2
-
ACT|ACTA3|ACTE|ACTL3|ACTSG|MMIHS5|VSCM|VSCM1
MIM:102545|HGNC:HGNC:145|Ensembl:ENSG00000163017|AllianceGenome:HGNC:145
2
2p13.1
actin gamma 2, smooth muscle
protein-coding
ACTG2
actin gamma 2, smooth muscle
O
actin, gamma-enteric smooth muscle|actin, gamma 2, smooth muscle, enteric|actin-like protein|alpha-actin-3
20240411
-
9606
73
ACTG1P1
-
ACT1GP1|ACTGP1|HY-psi-gamma-AC6
HGNC:HGNC:146|AllianceGenome:HGNC:146
3
3q23
actin gamma 1 pseudogene 1
pseudo
ACTG1P1
actin gamma 1 pseudogene 1
O
actin, gamma pseudogene 1
20231010
-
9606
74
ACTG1P2
-
ACTGP2|ACTL2
HGNC:HGNC:147|AllianceGenome:HGNC:147
Y
Yq11.222
actin gamma 1 pseudogene 2
pseudo
ACTG1P2
actin gamma 1 pseudogene 2
O
-
20231010
-
9606
75
ACTG1P3
-
ACTGP3|dJ545L17.4
HGNC:HGNC:148|AllianceGenome:HGNC:148
20
20p13
actin gamma 1 pseudogene 3
pseudo
ACTG1P3
actin gamma 1 pseudogene 3
O
actin, gamma pseudogene 3
20231010
-
9606
78
ACTG1P6
-
ACTGP6
HGNC:HGNC:151
1
1p21
actin gamma 1 pseudogene 6
pseudo
ACTG1P6
actin gamma 1 pseudogene 6
O
actin, gamma pseudogene 6
20190324
-
9606
79
ACTG1P7
-
ACTGP7
HGNC:HGNC:152
1
1p21
actin gamma 1 pseudogene 7
pseudo
ACTG1P7
actin gamma 1 pseudogene 7
O
actin, gamma pseudogene 7
20190324
-
9606
80
ACTG1P8
-
ACTGP8
HGNC:HGNC:153
1
1p21
actin gamma 1 pseudogene 8
pseudo
ACTG1P8
actin gamma 1 pseudogene 8
O
actin, gamma pseudogene 8
20190324
-
9606
81
ACTN4
-
ACTININ-4|FSGS|FSGS1
MIM:604638|HGNC:HGNC:166|Ensembl:ENSG00000130402|AllianceGenome:HGNC:166
19
19q13.2
actinin alpha 4
protein-coding
ACTN4
actinin alpha 4
O
alpha-actinin-4|focal segmental glomerulosclerosis 1|non-muscle alpha-actinin 4
20240408
-
9606
82
ACTG1P9
-
ACTGP9
HGNC:HGNC:154|AllianceGenome:HGNC:154
6
6p12.3
actin gamma 1 pseudogene 9
pseudo
ACTG1P9
actin gamma 1 pseudogene 9
O
actin, gamma pseudogene 9
20231010
-
9606
83
ACTG1P10
-
ACTGP10|ACTL1|ACTP1
HGNC:HGNC:155|AllianceGenome:HGNC:155
X
Xp11.22
actin gamma 1 pseudogene 10
pseudo
ACTG1P10
actin gamma 1 pseudogene 10
O
actin, gamma pseudogene 10|actin-like 1|actin-like sequence-1
20231010
-
9606
86
ACTL6A
-
ACTL6|ARPN-BETA|Arp4|BAF53A|INO80K|SMARCN1
MIM:604958|HGNC:HGNC:24124|Ensembl:ENSG00000136518|AllianceGenome:HGNC:24124
3
3q26.33
actin like 6A
protein-coding
ACTL6A
actin like 6A
O
actin-like protein 6A|53 kDa BRG1-associated factor A|BAF complex 53 kDa subunit|BAF53|BRG1-associated factor 53A|INO80 complex subunit K|actin-related protein 4|actin-related protein Baf53a|arpNbeta|hArpN beta
20240411
-
9606
87
ACTN1
-
BDPLT15
MIM:102575|HGNC:HGNC:163|Ensembl:ENSG00000072110|AllianceGenome:HGNC:163
14
14q24.1|14q22-q24
actinin alpha 1
protein-coding
ACTN1
actinin alpha 1
O
alpha-actinin-1|F-actin cross-linking protein|actinin 1 smooth muscle|epididymis secretory sperm binding protein|non-muscle alpha-actinin-1
20240407
-
9606
88
ACTN2
-
CMD1AA|CMH23|CMYP8|MPD6|MYOCOZ
MIM:102573|HGNC:HGNC:164|Ensembl:ENSG00000077522|AllianceGenome:HGNC:164
1
1q43
actinin alpha 2
protein-coding
ACTN2
actinin alpha 2
O
alpha-actinin-2|F-actin cross-linking protein|alpha-actinin skeletal muscle
20240331
-
9606
89
ACTN3
-
ACTN3D
MIM:102574|HGNC:HGNC:165|Ensembl:ENSG00000248746|AllianceGenome:HGNC:165
11
11q13.2
actinin alpha 3
protein-coding
ACTN3
actinin alpha 3
O
alpha-actinin-3|F-actin cross-linking protein|alpha-actinin skeletal muscle
20240423
-
9606
90
ACVR1
-
ACTRI|ACVR1A|ACVRLK2|ALK2|FOP|SKR1|TSRI
MIM:102576|HGNC:HGNC:171|Ensembl:ENSG00000115170|AllianceGenome:HGNC:171
2
2q24.1
activin A receptor type 1
protein-coding
ACVR1
activin A receptor type 1
O
activin receptor type-1|TGF-B superfamily receptor type I|activin A receptor, type I|activin A receptor, type II-like kinase 2|activin receptor type I|activin receptor-like kinase 2|hydroxyalkyl-protein kinase|serine/threonine-protein kinase receptor R1
20240331
-
9606
91
ACVR1B
-
ACTRIB|ACVRLK4|ALK4|SKR2
MIM:601300|HGNC:HGNC:172|Ensembl:ENSG00000135503|AllianceGenome:HGNC:172
12
12q13.13
activin A receptor type 1B
protein-coding
ACVR1B
activin A receptor type 1B
O
activin receptor type-1B|activin A receptor, type IB|activin A receptor, type II-like kinase 4|activin receptor-like kinase 4|serine/threonine-protein kinase receptor R2
20240411
-
9606
92
ACVR2A
-
ACTRII|ACVR2
MIM:102581|HGNC:HGNC:173|Ensembl:ENSG00000121989|AllianceGenome:HGNC:173
2
2q22.3-q23.1
activin A receptor type 2A
protein-coding
ACVR2A
activin A receptor type 2A
O
activin receptor type-2A|activin A receptor, type IIA
20240411
-
9606
93
ACVR2B
-
ACTRIIB|ActR-IIB|HTX4
MIM:602730|HGNC:HGNC:174|Ensembl:ENSG00000114739|AllianceGenome:HGNC:174
3
3p22.2
activin A receptor type 2B
protein-coding
ACVR2B
activin A receptor type 2B
O
activin receptor type-2B|activin A receptor, type IIB
20240411
-
9606
94
ACVRL1
-
ACVRLK1|ALK-1|ALK1|HHT|HHT2|ORW2|SKR3|TSR-I
MIM:601284|HGNC:HGNC:175|Ensembl:ENSG00000139567|AllianceGenome:HGNC:175
12
12q13.13
activin A receptor like type 1
protein-coding
ACVRL1
activin A receptor like type 1
O
serine/threonine-protein kinase receptor R3|TGF-B superfamily receptor type I|activin A receptor type II-like 1|activin A receptor type IL|activin A receptor, type II-like kinase 1
20240403
-
9606
95
ACY1
-
ACY-1|ACY1D|HEL-S-5
MIM:104620|HGNC:HGNC:177|Ensembl:ENSG00000243989|AllianceGenome:HGNC:177
3
3p21.2
aminoacylase 1
protein-coding
ACY1
aminoacylase 1
O
aminoacylase-1|N-acyl-L-amino-acid amidohydrolase|acylase|epididymis secretory protein Li 5
20240302
-
9606
97
ACYP1
-
ACYPE
MIM:600875|HGNC:HGNC:179|Ensembl:ENSG00000119640|AllianceGenome:HGNC:179
14
14q24.3
acylphosphatase 1
protein-coding
ACYP1
acylphosphatase 1
O
acylphosphatase-1|acylphosphatase 1, erythrocyte (common) type|acylphosphatase, erythrocyte isozyme|acylphosphatase, organ-common type isozyme|acylphosphate phosphohydrolase 1
20240302
-
9606
98
ACYP2
-
ACYM|ACYP
MIM:102595|HGNC:HGNC:180|Ensembl:ENSG00000170634|AllianceGenome:HGNC:180
2
2p16.2
acylphosphatase 2
protein-coding
ACYP2
acylphosphatase 2
O
acylphosphatase-2|acylphosphatase 2, muscle type|acylphosphatase, muscle type isozyme|acylphosphate phosphohydrolase 2|testicular tissue protein Li 11
20240422
-
9606
100
ADA
-
ADA1
MIM:608958|HGNC:HGNC:186|Ensembl:ENSG00000196839|AllianceGenome:HGNC:186
20
20q13.12
adenosine deaminase
protein-coding
ADA
adenosine deaminase
O
adenosine deaminase|adenosine aminohydrolase
20240302
-
9606
101
ADAM8
-
CD156|CD156a|MS2
MIM:602267|HGNC:HGNC:215|Ensembl:ENSG00000151651|AllianceGenome:HGNC:215
10
10q26.3
ADAM metallopeptidase domain 8
protein-coding
ADAM8
ADAM metallopeptidase domain 8
O
disintegrin and metalloproteinase domain-containing protein 8|a disintegrin and metalloproteinase domain 8|cell surface antigen MS2|human leukocyte differentiation antigen
20240411
-
9606
102
ADAM10
-
AD10|AD18|CD156c|CDw156|HsT18717|MADM|RAK|kuz
MIM:602192|HGNC:HGNC:188|Ensembl:ENSG00000137845|AllianceGenome:HGNC:188
15
15q21.3
ADAM metallopeptidase domain 10
protein-coding
ADAM10
ADAM metallopeptidase domain 10
O
disintegrin and metalloproteinase domain-containing protein 10|a disintegrin and metalloprotease domain 10|kuzbanian protein homolog|mammalian disintegrin-metalloprotease
20240411
-
9606
103
ADAR
-
ADAR1|AGS6|DRADA|DSH|DSRAD|G1P1|IFI-4|IFI4|K88DSRBP|P136
MIM:146920|HGNC:HGNC:225|Ensembl:ENSG00000160710|AllianceGenome:HGNC:225
1
1q21.3
adenosine deaminase RNA specific
protein-coding
ADAR
adenosine deaminase RNA specific
O
double-stranded RNA-specific adenosine deaminase|136 kDa double-stranded RNA-binding protein|adenosine deaminase acting on RNA 1-A|dsRNA adenosine deaminase|dsRNA adeonosine deaminase|interferon-induced protein 4|interferon-inducible protein 4
20240430
-
9606
104
ADARB1
-
ADAR2|DRABA2|DRADA2|NEDHYMS|RED1
MIM:601218|HGNC:HGNC:226|Ensembl:ENSG00000197381|AllianceGenome:HGNC:226
21
21q22.3
adenosine deaminase RNA specific B1
protein-coding
ADARB1
adenosine deaminase RNA specific B1
O
double-stranded RNA-specific editase 1|RNA editing deaminase 1|RNA-editing enzyme 1|adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)|dsRNA adenosine deaminase DRADA2
20240403
-
9606
105
ADARB2
-
ADAR3|RED2
MIM:602065|HGNC:HGNC:227|Ensembl:ENSG00000185736|AllianceGenome:HGNC:227
10
10p15.3
adenosine deaminase RNA specific B2 (inactive)
protein-coding
ADARB2
adenosine deaminase RNA specific B2 (inactive)
O
double-stranded RNA-specific editase B2|RED2 homolog|RNA-dependent adenosine deaminase 3|RNA-editing deaminase 2|RNA-editing enzyme 2|adenosine deaminase, RNA-specific, B2 (RED1 homolog rat)|adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)|adenosine deaminase, RNA-specific, B2 (non-functional)|dsRNA adenosine deaminase B2|homolog of rat BLUE
20240305
-
9606
106
ADCP1
-
-
HGNC:HGNC:229
6
-
adenosine deaminase complexing protein 1
unknown
ADCP1
adenosine deaminase complexing protein 1
O
-
20190324
-
9606
107
ADCY1
-
AC1|DFNB44
MIM:103072|HGNC:HGNC:232|Ensembl:ENSG00000164742|AllianceGenome:HGNC:232
7
7p12.3
adenylate cyclase 1
protein-coding
ADCY1
adenylate cyclase 1
O
adenylate cyclase type 1|3',5'-cyclic AMP synthetase|ATP pyrophosphate-lyase 1|Ca(2+)/calmodulin-activated adenylyl cyclase|adenyl cyclase|adenylate cyclase 1 (brain)|adenylate cyclase type I|adenylyl cyclase 1|adenylyl cyclase subtype 1
20240411
-
9606
108
ADCY2
-
AC2|HBAC2
MIM:103071|HGNC:HGNC:233|Ensembl:ENSG00000078295|AllianceGenome:HGNC:233
5
5p15.31
adenylate cyclase 2
protein-coding
ADCY2
adenylate cyclase 2
O
adenylate cyclase type 2|3',5'-cyclic AMP synthetase|ATP pyrophosphate-lyase 2|adenylate cyclase 2 (brain)|adenylate cyclase II|adenylate cyclase type II|adenylyl cyclase 2|type II adenylate cyclase
20240411
-
9606
109
ADCY3
-
AC-III|AC3|BMIQ19
MIM:600291|HGNC:HGNC:234|Ensembl:ENSG00000138031|AllianceGenome:HGNC:234
2
2p23.3
adenylate cyclase 3
protein-coding
ADCY3
adenylate cyclase 3
O
adenylate cyclase type 3|ATP pyrophosphate-lyase 3|adenylate cyclase type III|adenylate cyclase, olfactive type|adenylyl cyclase 3|adenylyl cyclase, type III
20240411
-
9606
111
ADCY5
-
AC5|DSKOD|FDFM
MIM:600293|HGNC:HGNC:236|Ensembl:ENSG00000173175|AllianceGenome:HGNC:236
3
3q21.1
adenylate cyclase 5
protein-coding
ADCY5
adenylate cyclase 5
O
adenylate cyclase type 5|ATP pyrophosphate-lyase 5|adenylate cyclase type V|adenylyl cyclase 5|epididymis secretory sperm binding protein
20240411
-
9606
112
ADCY6
-
AC6|LCCS8
MIM:600294|HGNC:HGNC:237|Ensembl:ENSG00000174233|AllianceGenome:HGNC:237
12
12q13.12
adenylate cyclase 6
protein-coding
ADCY6
adenylate cyclase 6
O
adenylate cyclase type 6|ATP pyrophosphate-lyase 6|adenylate cyclase type VI|ca(2+)-inhibitable adenylyl cyclase
20240411
-
9606
113
ADCY7
-
AC7
MIM:600385|HGNC:HGNC:238|Ensembl:ENSG00000121281|AllianceGenome:HGNC:238
16
16q12.1
adenylate cyclase 7
protein-coding
ADCY7
adenylate cyclase 7
O
adenylate cyclase type 7|ATP pyrophosphate-lyase 7|adenylate cyclase type VII|adenylyl cyclase 7
20240411
-
9606
114
ADCY8
-
AC8|ADCY3|HBAC1
MIM:103070|HGNC:HGNC:239|Ensembl:ENSG00000155897|AllianceGenome:HGNC:239
8
8q24.22
adenylate cyclase 8
protein-coding
ADCY8
adenylate cyclase 8
O
adenylate cyclase type 8|ATP pyrophosphate-lyase 8|HEL-S-172mP|adenylate cyclase 8 (brain)|adenylate cyclase type VIII|adenylyl cyclase 8|adenylyl cyclase-8, brain|ca(2+)/calmodulin-activated adenylyl cyclase|epididymis secretory sperm binding protein Li 172mP
20240411
-
9606
115
ADCY9
-
AC9|ACIX
MIM:603302|HGNC:HGNC:240|Ensembl:ENSG00000162104|AllianceGenome:HGNC:240
16
16p13.3
adenylate cyclase 9
protein-coding
ADCY9
adenylate cyclase 9
O
adenylate cyclase type 9|ATP pyrophosphate-lyase 9|adenylate cyclase type IX|adenylyl cyclase 9|type IX ATP pyrophosphate-lyase
20240411
-
9606
116
ADCYAP1
-
PACAP
MIM:102980|HGNC:HGNC:241|Ensembl:ENSG00000141433|AllianceGenome:HGNC:241
18
18p11.32
adenylate cyclase activating polypeptide 1
protein-coding
ADCYAP1
adenylate cyclase activating polypeptide 1
O
pituitary adenylate cyclase-activating polypeptide|adenylate cyclase activating polypeptide 1 (pituitary)|prepro-PACAP
20240411
-
9606
117
ADCYAP1R1
-
PAC1|PAC1R|PACAPR|PACAPRI
MIM:102981|HGNC:HGNC:242|Ensembl:ENSG00000078549|AllianceGenome:HGNC:242
7
7p14.3
ADCYAP receptor type I
protein-coding
ADCYAP1R1
ADCYAP receptor type I
O
pituitary adenylate cyclase-activating polypeptide type I receptor|PACAP receptor 1|PACAP type I receptor|PACAP-R1|adenylate cyclase activating polypeptide 1 (pituitary) receptor type I|pituitary adenylate cyclase activating polypeptide 1 receptor type I Hiphop|pituitary adenylate cyclase-activating polypeptide type 1 receptor
20240403
-
9606
118
ADD1
-
ADDA
MIM:102680|HGNC:HGNC:243|Ensembl:ENSG00000087274|AllianceGenome:HGNC:243
4
4p16.3
adducin 1
protein-coding
ADD1
adducin 1
O
alpha-adducin|adducin 1 (alpha)|alpha-adducin 1|erythrocyte adducin alpha subunit
20240407
-