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基因IDtaxidGeneDate
LocusTag
Symbol
Synonyms
Symbolfna
Fullnamefna
dbXrefschromosome
maplocation
descriptiongenetype
fnastatus
OtherdesignationsFeaturetype
1659960620220513
DHX8
DDX8|Dhr2|HRH1|PRP22|PRPF22
DHX8
DEAH-box helicase 8
MIM:600396|HGNC:HGNC:2749|Ensembl:ENSG00000067596|AllianceGenome:HGNC:274917
17q21.31
DEAH-box helicase 8protein-coding
O
ATP-dependent RNA helicase DHX8|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)|DEAH (Asp-Glu-Ala-His) box polypeptide 8|DEAH box protein 8|RNA helicase HRH1
1660960620220707
DHX9
DDX9|LKP|NDH2|NDHII|RHA
DHX9
DExH-box helicase 9
MIM:603115|HGNC:HGNC:2750|Ensembl:ENSG00000135829|AllianceGenome:HGNC:27501
1q25.3
DExH-box helicase 9protein-coding
O
ATP-dependent RNA helicase A|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9|DEAH (Asp-Glu-Ala-His) box helicase 9|DEAH (Asp-Glu-Ala-His) box polypeptide 9|DEAH box protein 9|DEAH-box helicase 9|RNA helicase A|leukophysin|nuclear DNA helicase II
1661960620220513
DHX9P1
DDX9P|DHX9P
DHX9P1
DEAH-box helicase 9 pseudogene 1
HGNC:HGNC:2751|AllianceGenome:HGNC:275113
13q22.3
DEAH-box helicase 9 pseudogene 1pseudo
O
DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A) pseudogene|DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene 1
1662960620220703
DDX10
Dbp4|HRH-J8
DDX10
DEAD-box helicase 10
MIM:601235|HGNC:HGNC:2735|Ensembl:ENSG00000178105|AllianceGenome:HGNC:273511
11q22.3
DEAD-box helicase 10protein-coding
O
probable ATP-dependent RNA helicase DDX10|DDX10-NUP98 fusion protein type 2|DEAD (Asp-Glu-Ala-Asp) box polypeptide 10|DEAD box protein 10|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)
1663960620220513
DDX11
CHL1|CHLR1|KRG2|WABS
DDX11
DEAD/H-box helicase 11
MIM:601150|HGNC:HGNC:2736|Ensembl:ENSG00000013573|AllianceGenome:HGNC:273612
12p11.21
DEAD/H-box helicase 11protein-coding
O
ATP-dependent DNA helicase DDX11|CHL1-like helicase homolog|CHL1-related helicase gene-1|CHL1-related protein 1|DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae)|DEAD/H box protein 11|KRG-2|hCHLR1|keratinocyte growth factor-regulated gene 2 protein|probable ATP-dependent DNA helicase DDX11|probable ATP-dependent RNA helicase DDX11
1665960620220703
DHX15
DBP1|DDX15|PRP43|PRPF43|PrPp43p|hPrp43
DHX15
DEAH-box helicase 15
MIM:603403|HGNC:HGNC:2738|Ensembl:ENSG00000109606|AllianceGenome:HGNC:27384
4p15.2
DEAH-box helicase 15protein-coding
O
ATP-dependent RNA helicase DHX15|ATP-dependent RNA helicase #46|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15|DEAD/H box-15|DEAH (Asp-Glu-Ala-His) box helicase 15|DEAH (Asp-Glu-Ala-His) box polypeptide 15|DEAH box protein 15|RNA helicase 2|pre-mRNA-splicing factor ATP-dependent RNA helicase DHX15|putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX15|splicing factor Prp43
1666960620220513
DECR1
DECR|NADPH|SDR18C1
DECR1
2,4-dienoyl-CoA reductase 1
MIM:222745|HGNC:HGNC:2753|Ensembl:ENSG00000104325|AllianceGenome:HGNC:27538
8q21.3
2,4-dienoyl-CoA reductase 1protein-coding
O
2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing], mitochondrial|2,4-dienoyl-CoA reductase 1, mitochondrial|2,4-dienoyl-CoA reductase, mitochondrial|4-enoyl-CoA reductase|short chain dehydrogenase/reductase family 18C member 1
1667960620220703
DEFA1
DEF1|DEFA2|HNP-1|HP-1|HP1|MRS
DEFA1
defensin alpha 1
MIM:125220|HGNC:HGNC:2761|Ensembl:ENSG00000206047|AllianceGenome:HGNC:27618
8p23.1
defensin alpha 1protein-coding
O
neutrophil defensin 1|defensin, alpha 1, myeloid-related sequence|defensin, alpha 2|myeloid-related sequence
1668960620220513
DEFA3
DEF3|HNP-3|HNP3|HP-3|HP3
DEFA3
defensin alpha 3
MIM:604522|HGNC:HGNC:2762|Ensembl:ENSG00000239839|AllianceGenome:HGNC:27628
8p23.1
defensin alpha 3protein-coding
O
neutrophil defensin 3|defensin 3, neutrophil-specific|defensin, alpha 3, neutrophil-specific|neutrophil peptide 3
1669960620220528
DEFA4
DEF4|HNP-4|HP-4|HP4
DEFA4
defensin alpha 4
MIM:601157|HGNC:HGNC:2763|Ensembl:ENSG00000164821|AllianceGenome:HGNC:27638
8p23.1
defensin alpha 4protein-coding
O
defensin alpha 4|corticostatin|corticostatin HP-4|defensin, alpha 4, corticostatin|defensin, alpha 4, preproprotein|neutrophil defensin 4
1670960620220612
DEFA5
DEF5|HD-5
DEFA5
defensin alpha 5
MIM:600472|HGNC:HGNC:2764|Ensembl:ENSG00000164816|AllianceGenome:HGNC:27648
8p23.1
defensin alpha 5protein-coding
O
defensin-5|HD5(20-94)|defensin, alpha 5, Paneth cell-specific|defensin, alpha 5, preproprotein
1671960620220522
DEFA6
DEF6|HD-6
DEFA6
defensin alpha 6
MIM:600471|HGNC:HGNC:2765|Ensembl:ENSG00000164822|AllianceGenome:HGNC:27658
8p23.1
defensin alpha 6protein-coding
O
defensin-6|defensin, alpha 6, Paneth cell-specific
1672960620220612
DEFB1
BD1|DEFB-1|DEFB101|HBD1
DEFB1
defensin beta 1
MIM:602056|HGNC:HGNC:2766|Ensembl:ENSG00000164825|AllianceGenome:HGNC:27668
8p23.1
defensin beta 1protein-coding
O
beta-defensin 1|BD-1
1673960620220522
DEFB4A
BD-2|DEFB-2|DEFB102|DEFB2|DEFB4|HBD-2|SAP1
DEFB4A
defensin beta 4A
MIM:602215|HGNC:HGNC:2767|Ensembl:ENSG00000171711|AllianceGenome:HGNC:27678
8p23.1
defensin beta 4Aprotein-coding
O
beta-defensin 4A|beta defensin-2|defensin, beta 2|defensin, beta 4|skin-antimicrobial peptide 1
1674960620220529
DES
CDCD3|CSM1|CSM2|LGMD1D|LGMD1E|LGMD2R
DES
desmin
MIM:125660|HGNC:HGNC:2770|Ensembl:ENSG00000175084|AllianceGenome:HGNC:27702
2q35
desminprotein-coding
O
desmin|cardiomyopathy, dilated 1F (autosomal dominant)|epididymis secretory sperm binding protein|intermediate filament protein
1675960620220529
CFD
ADIPSIN|ADN|DF|PFD
CFD
complement factor D
MIM:134350|HGNC:HGNC:2771|Ensembl:ENSG00000197766|AllianceGenome:HGNC:277119
19p13.3
complement factor Dprotein-coding
O
complement factor D|C3 convertase activator|D component of complement (adipsin)|complement factor D preproprotein|properdin factor D
1676960620220707
DFFA
DFF-45|DFF1|ICAD
DFFA
DNA fragmentation factor subunit alpha
MIM:601882|HGNC:HGNC:2772|Ensembl:ENSG00000160049|AllianceGenome:HGNC:27721
1p36.22
DNA fragmentation factor subunit alphaprotein-coding
O
DNA fragmentation factor subunit alpha|DFF45|DNA fragmentation factor 45 kDa subunit|DNA fragmentation factor, 45kDa, alpha polypeptide|inhibitor of CAD
1677960620220522
DFFB
CAD|CPAN|DFF-40|DFF2|DFF40
DFFB
DNA fragmentation factor subunit beta
MIM:601883|HGNC:HGNC:2773|Ensembl:ENSG00000169598|AllianceGenome:HGNC:27731
1p36.32
DNA fragmentation factor subunit betaprotein-coding
O
DNA fragmentation factor subunit beta|DNA fragmentation factor 40 kDa subunit|DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)|caspase-activated DNase|caspase-activated deoxyribonuclease|caspase-activated nuclease
1678960620220522
TIMM8A
DDP|DDP1|DFN1|MTS|TIM8
TIMM8A
translocase of inner mitochondrial membrane 8A
MIM:300356|HGNC:HGNC:11817|Ensembl:ENSG00000126953|AllianceGenome:HGNC:11817X
Xq22.1
translocase of inner mitochondrial membrane 8Aprotein-coding
O
mitochondrial import inner membrane translocase subunit Tim8 A|X-linked deafness dystonia protein|deafness dystonia protein 1|deafness/dystonia peptide|translocase of inner mitochondrial membrane 8 homolog A
1680960620191002
DFNX3
DFN4
MIM:300030X
Xp21.2
deafness, X-linked 3unknown
deafness 4, congenital sensorineural
1687960620220703
GSDME
DFNA5|ICERE-1
GSDME
gasdermin E
MIM:608798|HGNC:HGNC:2810|Ensembl:ENSG00000105928|AllianceGenome:HGNC:28107
7p15.3
gasdermin Eprotein-coding
O
gasdermin-E|DFNA5, deafness associated tumor suppressor|inversely correlated with estrogen receptor expression 1|non-syndromic hearing impairment protein 5|nonsyndromic hearing impairment protein
1689960620191002
DFNA7
MIM:6014121
1q21-q23
deafness, autosomal dominant 7unknown
1690960620220619
COCH
COCH-5B2|COCH5B2|DFNA9|DFNB110
COCH
cochlin
MIM:603196|HGNC:HGNC:2180|Ensembl:ENSG00000100473|AllianceGenome:HGNC:218014
14q12
cochlinprotein-coding
O
cochlin|coagulation factor C homolog, cochlin (Limulus polyphemus)
1694960620191002
DFNA16
MIM:6039642
2q24
deafness, autosomal dominant 16unknown
1697960620191002
DFNB5
MIM:60079214
14q12
deafness, autosomal recessive 5unknown
1705960620191002
DFNB13
MIM:6030987
7q34-q36
deafness, autosomal recessive 13unknown
1706960620191002
DFNB14
MIM:6036787
7q31
deafness, autosomal recessive 14unknown
1709960620191002
DFNB17
MIM:6030107
7q31
deafness, autosomal recessive 17unknown
1713960620191002
DFNB20
MIM:60406011
11q25-qter
deafness, autosomal recessive 20unknown
1714960620190324
DGCR
CATCH22|DGS|VCF
DGCR
DiGeorge syndrome chromosome region
MIM:188400|HGNC:HGNC:284422
22q11.21-q11.23
DiGeorge syndrome chromosome regionother
O
DiGeorge syndrome chromosome region (velocardiofacial syndrome)
1716960620220513
DGUOK
MTDPS3|NCPH|NCPH1|PEOB4|dGK
DGUOK
deoxyguanosine kinase
MIM:601465|HGNC:HGNC:2858|Ensembl:ENSG00000114956|AllianceGenome:HGNC:28582
2p13.1
deoxyguanosine kinaseprotein-coding
O
deoxyguanosine kinase, mitochondrial|deoxyadenosine kinase, mitochondrial
1717960620220612
DHCR7
SLOS
DHCR7
7-dehydrocholesterol reductase
MIM:602858|HGNC:HGNC:2860|Ensembl:ENSG00000172893|AllianceGenome:HGNC:286011
11q13.4
7-dehydrocholesterol reductaseprotein-coding
O
7-dehydrocholesterol reductase|7-DHC reductase|delta-7-dehydrocholesterol reductase|delta7-sterol reductase|putative sterol reductase SR-2|sterol delta-7-reductase|sterol reductase SR-2
1718960620220703
DHCR24
DCE|Nbla03646|SELADIN1|seladin-1
DHCR24
24-dehydrocholesterol reductase
MIM:606418|HGNC:HGNC:2859|Ensembl:ENSG00000116133|AllianceGenome:HGNC:28591
1p32.3
24-dehydrocholesterol reductaseprotein-coding
O
delta(24)-sterol reductase|3 beta-hydroxysterol delta 24-reductase|desmosterol-to-cholesterol enzyme|diminuto/dwarf1 homolog|seladin 1|selective AD indicator 1
1719960620220612
DHFR
DHFRP1|DYR
DHFR
dihydrofolate reductase
MIM:126060|HGNC:HGNC:2861|Ensembl:ENSG00000228716|AllianceGenome:HGNC:28615
5q14.1
dihydrofolate reductaseprotein-coding
O
1720960620220513
DHFRP3
DHFRP3
dihydrofolate reductase pseudogene 3
HGNC:HGNC:52354|AllianceGenome:HGNC:523542
2p12
dihydrofolate reductase pseudogene 3pseudo
O
hDHFR-psi 3
1723960620220513
DHODH
DHOdehase|POADS|URA1
DHODH
dihydroorotate dehydrogenase (quinone)
MIM:126064|HGNC:HGNC:2867|Ensembl:ENSG00000102967|AllianceGenome:HGNC:286716
16q22.2
dihydroorotate dehydrogenase (quinone)protein-coding
O
dihydroorotate dehydrogenase (quinone), mitochondrial|dihydroorotate oxidase|human complement of yeast URA1
1725960620220605
DHPS
DHS|DS|MIG13|NEDSSWI
DHPS
deoxyhypusine synthase
MIM:600944|HGNC:HGNC:2869|Ensembl:ENSG00000095059|AllianceGenome:HGNC:286919
19p13.13
deoxyhypusine synthaseprotein-coding
O
deoxyhypusine synthase|migration-inducing gene 13
1727960620220513
CYB5R3
B5R|DIA1
CYB5R3
cytochrome b5 reductase 3
MIM:613213|HGNC:HGNC:2873|Ensembl:ENSG00000100243|AllianceGenome:HGNC:287322
22q13.2
cytochrome b5 reductase 3protein-coding
O
NADH-cytochrome b5 reductase 3|NADH-cytochrome b5 reductase 3 membrane-bound form|NADH-cytochrome b5 reductase 3 soluble form|diaphorase-1|mutant NADH-cytochrome b5 reductase
1728960620220619
NQO1
DHQU|DIA4|DTD|NMOR1|NMORI|QR1
NQO1
NAD(P)H quinone dehydrogenase 1
MIM:125860|HGNC:HGNC:2874|Ensembl:ENSG00000181019|AllianceGenome:HGNC:287416
16q22.1
NAD(P)H quinone dehydrogenase 1protein-coding
O
NAD(P)H dehydrogenase [quinone] 1|DT-diaphorase|NAD(P)H dehydrogenase, quinone 1|NAD(P)H:Quinone acceptor oxidoreductase type 1|NAD(P)H:menadione oxidoreductase 1|NAD(P)H:quinone oxidoreductase 1|NAD(P)H:quinone oxireductase|azoreductase|diaphorase (NADH/NADPH) (cytochrome b-5 reductase)|diaphorase-4|dioxin-inducible 1|menadione reductase|phylloquinone reductase|quinone reductase 1
1729960620220703
DIAPH1
DFNA1|DIA1|DRF1|LFHL1|SCBMS|hDIA1|mDia1
DIAPH1
diaphanous related formin 1
MIM:602121|HGNC:HGNC:2876|Ensembl:ENSG00000131504|AllianceGenome:HGNC:28765
5q31.3
diaphanous related formin 1protein-coding
O
protein diaphanous homolog 1|mammalian diaphanous related formin 1
1730960620220522
DIAPH2
DIA|DIA2|DRF2|POF|POF2|POF2A
DIAPH2
diaphanous related formin 2
MIM:300108|HGNC:HGNC:2877|Ensembl:ENSG00000147202|AllianceGenome:HGNC:2877X
Xq21.33
diaphanous related formin 2protein-coding
O
protein diaphanous homolog 2|Premature ovarian failure 2A|diaphanous homolog 2|diaphorase-2
1731960620220522
SEPTIN1
DIFF6|LARP|PNUTL3|SEP1|SEPT1
SEPTIN1
septin 1
MIM:612897|HGNC:HGNC:2879|Ensembl:ENSG00000180096|AllianceGenome:HGNC:287916
16p11.2
septin 1protein-coding
O
septin-1|differentiation 6 (deoxyguanosine triphosphate triphosphohydrolase)|peanut-like protein 3|serologically defined breast cancer antigen NY-BR-24
1732960620191002
DIH1
HCD
MIM:14234015
15q26.1-q26.2
diaphragmatic hernia 1unknown
1733960620220528
DIO1
5DI|THMA2|TXDI1
DIO1
iodothyronine deiodinase 1
MIM:147892|HGNC:HGNC:2883|Ensembl:ENSG00000211452|AllianceGenome:HGNC:28831
1p32.3
iodothyronine deiodinase 1protein-coding
O
type I iodothyronine deiodinase|DIOI|deiodinase, iodothyronine type I|iodothyronine deiodinase type 1|selenoprotein DIO1|thyroxine 5'-deiodinase|thyroxine deiodinase type I (selenoprotein)|type 1 DI|type-I 5'-deiodinase
1734960620220703
DIO2
5DII|D2|DIOII|SELENOY|SelY|TXDI2
DIO2
iodothyronine deiodinase 2
MIM:601413|HGNC:HGNC:2884|Ensembl:ENSG00000211448|AllianceGenome:HGNC:288414
14q31.1
iodothyronine deiodinase 2protein-coding
O
type II iodothyronine deiodinase|deiodinase, iodothyronine type II|deiodinase-2|deiodonase-2|selenoprotein Y|thyroxine deiodinase, type II|type 2 DI|type 2 iodothyronine deiodinase|type-II 5'-deiodinase|type-II 5'deiodinase
1735960620220513
DIO3
5DIII|D3|DIOIII|TXDI3
DIO3
iodothyronine deiodinase 3
MIM:601038|HGNC:HGNC:2885|Ensembl:ENSG00000197406|AllianceGenome:HGNC:288514
14q32.31
iodothyronine deiodinase 3protein-coding
O
thyroxine 5-deiodinase|deiodinase, iodothyronine type III|iodothyronine deiodinase, placental type|selenoprotein DIO3|thyroxine deiodinase type III (selenoprotein)|type 3 DI|type 3 iodothyronine selenodeiodinase|type-III 5' deiodinase
1736960620220703
DKC1
CBF5|DKC|DKCX|NAP57|NOLA4|XAP101
DKC1
dyskerin pseudouridine synthase 1
MIM:300126|HGNC:HGNC:2890|Ensembl:ENSG00000130826|AllianceGenome:HGNC:2890X
Xq28
dyskerin pseudouridine synthase 1protein-coding
O
H/ACA ribonucleoprotein complex subunit DKC1|CBF5 homolog|H/ACA ribonucleoprotein complex subunit 4|dyskeratosis congenita 1, dyskerin|nopp140-associated protein of 57 kDa|nucleolar protein NAP57|nucleolar protein family A member 4|snoRNP protein DKC1
1737960620220703
DLAT
DLTA|E2|PBC|PDC-E2|PDCE2
DLAT
dihydrolipoamide S-acetyltransferase
MIM:608770|HGNC:HGNC:2896|Ensembl:ENSG00000150768|AllianceGenome:HGNC:289611
11q23.1
dihydrolipoamide S-acetyltransferaseprotein-coding
O
dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial|70 kDa mitochondrial autoantigen of primary biliary cirrhosis|E2 component of pyruvate dehydrogenase complex|M2 antigen complex 70 kDa subunit|dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex|pyruvate dehydrogenase complex component E2
1738960620220513
DLD
DLDD|DLDH|E3|GCSL|LAD|OGDC-E3|PHE3
DLD
dihydrolipoamide dehydrogenase
MIM:238331|HGNC:HGNC:2898|Ensembl:ENSG00000091140|AllianceGenome:HGNC:28987
7q31.1
dihydrolipoamide dehydrogenaseprotein-coding
O
dihydrolipoyl dehydrogenase, mitochondrial|E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex|diaphorase|epididymis secretory sperm binding protein|glycine cleavage system L protein|glycine cleavage system protein L|lipoamide dehydrogenase|lipoamide reductase|lipoyl dehydrogenase
1739960620220718
DLG1
DLGH1|SAP-97|SAP97|hdlg
DLG1
discs large MAGUK scaffold protein 1
MIM:601014|HGNC:HGNC:2900|Ensembl:ENSG00000075711|AllianceGenome:HGNC:29003
3q29
discs large MAGUK scaffold protein 1protein-coding
O
disks large homolog 1|dJ1061C18.1.1|discs large homolog 1, scribble cell polarity complex component|presynaptic protein SAP97|synapse-associated protein 97
 
 
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