基因ID | taxid | GeneDate LocusTag | Symbol Synonyms | Symbolfna Fullnamefna | dbXrefs | chromosome maplocation | description | genetype fnastatus | Otherdesignations | Featuretype |
1857 | 9606 | 20220623 | DVL3 DRS3 | DVL3 dishevelled segment polarity protein 3 | MIM:601368|HGNC:HGNC:3087|Ensembl:ENSG00000161202|AllianceGenome:HGNC:3087 | 3 3q27.1 | dishevelled segment polarity protein 3 | protein-coding O | segment polarity protein dishevelled homolog DVL-3|dishevelled 3 (homologous to Drosophila dsh)|dishevelled, dsh homolog 3 | |
1858 | 9606 | 20191002 | DWS C3DELq22q24|DEL3q22q24 | MIM:220200 | 3 3q22-q24 | dandy-walker syndrome | unknown | |||
1859 | 9606 | 20220707 | DYRK1A DYRK|DYRK1|HP86|MNB|MNBH|MRD7 | DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A | MIM:600855|HGNC:HGNC:3091|Ensembl:ENSG00000157540|AllianceGenome:HGNC:3091 | 21 21q22.13 | dual specificity tyrosine phosphorylation regulated kinase 1A | protein-coding O | dual specificity tyrosine-phosphorylation-regulated kinase 1A|MNB/DYRK protein kinase|dual specificity YAK1-related kinase|dual specificity tyrosine-(Y)-phosphorylation regulated kinase 1A|mnb protein kinase homolog hp86|protein kinase minibrain homolog|serine/threonine kinase MNB|serine/threonine-specific protein kinase | |
1861 | 9606 | 20220719 | TOR1A AMC5|DQ2|DYT1 | TOR1A torsin family 1 member A | MIM:605204|HGNC:HGNC:3098|Ensembl:ENSG00000136827|AllianceGenome:HGNC:3098 | 9 9q34.11 | torsin family 1 member A | protein-coding O | torsin-1A|dystonia 1 protein|dystonia 1, torsion (autosomal dominant; torsin A)|torsin A|torsin ATPase 1|torsin ATPase-1A | |
1866 | 9606 | 20191002 | DYT7 | MIM:602124 | 18 18p | dystonia 7, torsion (autosomal dominant) | unknown | Dystonia-7 (torsion dystonia, adult-onset, focal) | ||
1867 | 9606 | 20200625 | DYX1 RD | MIM:127700 | 15 | dyslexia susceptibility 1 | unknown | |||
1869 | 9606 | 20220718 | E2F1 E2F-1|RBAP1|RBBP3|RBP3 | E2F1 E2F transcription factor 1 | MIM:189971|HGNC:HGNC:3113|Ensembl:ENSG00000101412|AllianceGenome:HGNC:3113 | 20 20q11.22 | E2F transcription factor 1 | protein-coding O | transcription factor E2F1|PBR3|PRB-binding protein E2F-1|RBAP-1|RBBP-3|retinoblastoma-associated protein 1|retinoblastoma-binding protein 3 | |
1870 | 9606 | 20220703 | E2F2 E2F-2 | E2F2 E2F transcription factor 2 | MIM:600426|HGNC:HGNC:3114|Ensembl:ENSG00000007968|AllianceGenome:HGNC:3114 | 1 1p36.12 | E2F transcription factor 2 | protein-coding O | transcription factor E2F2 | |
1871 | 9606 | 20220710 | E2F3 E2F-3 | E2F3 E2F transcription factor 3 | MIM:600427|HGNC:HGNC:3115|Ensembl:ENSG00000112242|AllianceGenome:HGNC:3115 | 6 6p22.3 | E2F transcription factor 3 | protein-coding O | transcription factor E2F3 | |
1872 | 9606 | 20220513 | E2F3P1 | E2F3P1 E2F transcription factor 3 pseudogene 1 | HGNC:HGNC:3116|AllianceGenome:HGNC:3116 | 17 17q12 | E2F transcription factor 3 pseudogene 1 | pseudo O | ||
1874 | 9606 | 20220513 | E2F4 E2F-4 | E2F4 E2F transcription factor 4 | MIM:600659|HGNC:HGNC:3118|Ensembl:ENSG00000205250|AllianceGenome:HGNC:3118 | 16 16q22.1 | E2F transcription factor 4 | protein-coding O | transcription factor E2F4|E2F transcription factor 4, p107/p130-binding|p107/p130-binding protein | |
1875 | 9606 | 20220703 | E2F5 E2F-5 | E2F5 E2F transcription factor 5 | MIM:600967|HGNC:HGNC:3119|Ensembl:ENSG00000133740|AllianceGenome:HGNC:3119 | 8 8q21.2 | E2F transcription factor 5 | protein-coding O | transcription factor E2F5|E2F transcription factor 5, p130-binding | |
1876 | 9606 | 20220513 | E2F6 E2F-6 | E2F6 E2F transcription factor 6 | MIM:602944|HGNC:HGNC:3120|Ensembl:ENSG00000169016|AllianceGenome:HGNC:3120 | 2 2p25.1 | E2F transcription factor 6 | protein-coding O | transcription factor E2F6 | |
1877 | 9606 | 20220707 | E4F1 E4F | E4F1 E4F transcription factor 1 | MIM:603022|HGNC:HGNC:3121|Ensembl:ENSG00000167967|AllianceGenome:HGNC:3121 | 16 16p13.3 | E4F transcription factor 1 | protein-coding O | transcription factor E4F1|RING-type E3 ubiquitin transferase E4F1|p120E4F|p50E4F|putative E3 ubiquitin-protein ligase E4F1|transcription factor E4F | |
1878 | 9606 | 20191002 | E11S | MIM:129150 | 19 19q13.1-q13.3 | ECHO virus (serotypes 4, 6, 11, 19) sensitivity | unknown | |||
1879 | 9606 | 20220716 | EBF1 COE1|EBF|O/E-1|OLF1 | EBF1 EBF transcription factor 1 | MIM:164343|HGNC:HGNC:3126|Ensembl:ENSG00000164330|AllianceGenome:HGNC:3126 | 5 5q33.3 | EBF transcription factor 1 | protein-coding O | transcription factor COE1|Collier, Olf and EBF transcription factor 1|early B cell factor 1|olfactory neuronal transcription factor 1 | |
1880 | 9606 | 20220513 | GPR183 EBI2|hEBI2 | GPR183 G protein-coupled receptor 183 | MIM:605741|HGNC:HGNC:3128|Ensembl:ENSG00000169508|AllianceGenome:HGNC:3128 | 13 13q32.3 | G protein-coupled receptor 183 | protein-coding O | G-protein coupled receptor 183|EBV-induced G-protein coupled receptor 2|Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)|epstein-Barr virus-induced G-protein coupled receptor 2 | |
1881 | 9606 | 20200624 | EBM | MIM:302000 | X Xq27.3-qter | epidermolysis bullosa, macular type | unknown | |||
1884 | 9606 | 20191002 | EBR3 ULG4 | MIM:226500 | epidermolysis bullosa 3, progressiva | unknown | ||||
1888 | 9606 | 20190324 | EBVS1 | EBVS1 Epstein Barr virus integration site 1 | MIM:132850|HGNC:HGNC:3143 | 1 1p35 | Epstein Barr virus integration site 1 | other O | Epstein Barr virus insertion site 1|Epstein-Barr virus integration site | |
1889 | 9606 | 20220703 | ECE1 ECE | ECE1 endothelin converting enzyme 1 | MIM:600423|HGNC:HGNC:3146|Ensembl:ENSG00000117298|AllianceGenome:HGNC:3146 | 1 1p36.12 | endothelin converting enzyme 1 | protein-coding O | endothelin-converting enzyme 1|ECE-1 | |
1890 | 9606 | 20220703 | TYMP ECGF|ECGF1|MEDPS1|MNGIE|MTDPS1|PDECGF|TP|hPD-ECGF | TYMP thymidine phosphorylase | MIM:131222|HGNC:HGNC:3148|Ensembl:ENSG00000025708|AllianceGenome:HGNC:3148 | 22 22q13.33 | thymidine phosphorylase | protein-coding O | thymidine phosphorylase|gliostatin|tdRPase | |
1891 | 9606 | 20220605 | ECH1 HPXEL | ECH1 enoyl-CoA hydratase 1 | MIM:600696|HGNC:HGNC:3149|Ensembl:ENSG00000104823|AllianceGenome:HGNC:3149 | 19 19q13.2 | enoyl-CoA hydratase 1 | protein-coding O | delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial|delta3,5-delta2,4-dienoyl-CoA isomerase|delta3,5-delta2,4-dienoyl-coenzyme A isomerase|dienoyl-CoA isomerase|enoyl Coenzyme A hydratase 1, peroxisomal|enoyl-CoA hydratase 1, peroxisomal|epididymis secretory sperm binding protein|peroxisomal enoyl-CoA hydratase 1 | |
1892 | 9606 | 20220605 | ECHS1 ECHS1D|SCEH|mECH|mECH1 | ECHS1 enoyl-CoA hydratase, short chain 1 | MIM:602292|HGNC:HGNC:3151|Ensembl:ENSG00000127884|AllianceGenome:HGNC:3151 | 10 10q26.3 | enoyl-CoA hydratase, short chain 1 | protein-coding O | enoyl-CoA hydratase, mitochondrial|enoyl Coenzyme A hydratase, short chain, 1, mitochondrial|enoyl-CoA hydratase, short chain, 1, mitochondrial|epididymis secretory sperm binding protein|short chain enoyl-CoA hydratase | |
1893 | 9606 | 20220703 | ECM1 URBWD | ECM1 extracellular matrix protein 1 | MIM:602201|HGNC:HGNC:3153|Ensembl:ENSG00000143369|AllianceGenome:HGNC:3153 | 1 1q21.2 | extracellular matrix protein 1 | protein-coding O | extracellular matrix protein 1|secretory component p85|testicular tissue protein Li 61 | |
1894 | 9606 | 20220626 | ECT2 ARHGEF31 | ECT2 epithelial cell transforming 2 | MIM:600586|HGNC:HGNC:3155|Ensembl:ENSG00000114346|AllianceGenome:HGNC:3155 | 3 3q26.31 | epithelial cell transforming 2 | protein-coding O | protein ECT2|epithelial cell-transforming sequence 2 oncogene | |
1896 | 9606 | 20220711 | EDA ECTD1|ED1|ED1-A1|ED1-A2|EDA-A1|EDA-A2|EDA1|EDA2|HED|HED1|ODT1|STHAGX1|TNLG7C|XHED|XLHED | EDA ectodysplasin A | MIM:300451|HGNC:HGNC:3157|Ensembl:ENSG00000158813|AllianceGenome:HGNC:3157 | X Xq13.1 | ectodysplasin A | protein-coding O | ectodysplasin-A|X-linked anhidroitic ectodermal dysplasia protein|oligodontia 1|tumor necrosis factor ligand 7C | |
1901 | 9606 | 20220612 | S1PR1 CD363|CHEDG1|D1S3362|ECGF1|EDG-1|EDG1|S1P1 | S1PR1 sphingosine-1-phosphate receptor 1 | MIM:601974|HGNC:HGNC:3165|Ensembl:ENSG00000170989|AllianceGenome:HGNC:3165 | 1 1p21.2 | sphingosine-1-phosphate receptor 1 | protein-coding O | sphingosine 1-phosphate receptor 1|S1P receptor 1|S1P receptor Edg-1|endothelial differentiation G-protein coupled receptor 1|endothelial differentiation, sphingolipid G-protein-coupled receptor, 1|sphingosine 1-phosphate receptor EDG1|sphingosine 1-phosphate receptor Edg-1 | |
1902 | 9606 | 20220522 | LPAR1 EDG2|Gpcr26|LPA1|Mrec1.3|VZG1|edg-2|rec.1.3|vzg-1 | LPAR1 lysophosphatidic acid receptor 1 | MIM:602282|HGNC:HGNC:3166|Ensembl:ENSG00000198121|AllianceGenome:HGNC:3166 | 9 9q31.3 | lysophosphatidic acid receptor 1 | protein-coding O | lysophosphatidic acid receptor 1|LPA receptor 1|LPA-1|endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2|lysophosphatidic acid receptor Edg-2|ventricular zone gene 1 | |
1903 | 9606 | 20220719 | S1PR3 C9orf108|C9orf47|EDG-3|EDG3|LPB3|S1P3|bA791O21.3 | S1PR3 sphingosine-1-phosphate receptor 3 | MIM:601965|HGNC:HGNC:3167|Ensembl:ENSG00000213694|AllianceGenome:HGNC:3167 | 9 9q22.1 | sphingosine-1-phosphate receptor 3 | protein-coding O | sphingosine 1-phosphate receptor 3|G protein-coupled receptor, endothelial differentiation gene-3|S1P receptor 3|S1P receptor EDG3|S1P receptor Edg-3|endothelial differentiation G-protein coupled receptor 3|endothelial differentiation, sphingolipid G-protein-coupled receptor, 3|sphingosine 1-phosphate receptor Edg-3|uncharacterized protein C9orf47 | |
1906 | 9606 | 20220703 | EDN1 ARCND3|ET1|HDLCQ7|PPET1|QME | EDN1 endothelin 1 | MIM:131240|HGNC:HGNC:3176|Ensembl:ENSG00000078401|AllianceGenome:HGNC:3176 | 6 6p24.1 | endothelin 1 | protein-coding O | endothelin-1|preproendothelin-1 | |
1907 | 9606 | 20220513 | EDN2 ET-2|ET2|PPET2 | EDN2 endothelin 2 | MIM:131241|HGNC:HGNC:3177|Ensembl:ENSG00000127129|AllianceGenome:HGNC:3177 | 1 1p34.2 | endothelin 2 | protein-coding O | endothelin-2|preproendothelin 2 | |
1908 | 9606 | 20220522 | EDN3 ET-3|ET3|HSCR4|PPET3|WS4B | EDN3 endothelin 3 | MIM:131242|HGNC:HGNC:3178|Ensembl:ENSG00000124205|AllianceGenome:HGNC:3178 | 20 20q13.32 | endothelin 3 | protein-coding O | endothelin-3|preproendothelin-3 | |
1909 | 9606 | 20220522 | EDNRA ET-A|ETA|ETA-R|ETAR|ETRA|MFDA|hET-AR | EDNRA endothelin receptor type A | MIM:131243|HGNC:HGNC:3179|Ensembl:ENSG00000151617|AllianceGenome:HGNC:3179 | 4 4q31.22-q31.23 | endothelin receptor type A | protein-coding O | endothelin-1 receptor|G protein-coupled receptor|endothelin receptor subtype A|endothelin-1-specific receptor | |
1910 | 9606 | 20220703 | EDNRB ABCDS|ET-B|ET-BR|ETB|ETB1|ETBR|ETRB|HSCR|HSCR2|WS4A | EDNRB endothelin receptor type B | MIM:131244|HGNC:HGNC:3180|Ensembl:ENSG00000136160|AllianceGenome:HGNC:3180 | 13 13q22.3 | endothelin receptor type B | protein-coding O | endothelin receptor type B|Hirschsprung disease 2|endothelin receptor non-selective type|endothelin receptor subtype B1 | |
1911 | 9606 | 20220623 | PHC1 EDR1|HPH1|MCPH11|RAE28 | PHC1 polyhomeotic homolog 1 | MIM:602978|HGNC:HGNC:3182|Ensembl:ENSG00000111752|AllianceGenome:HGNC:3182 | 12 12p13.31 | polyhomeotic homolog 1 | protein-coding O | polyhomeotic-like protein 1|early development regulator 1 (homolog of polyhomeotic 1)|early development regulatory protein 1|polyhomeotic-like 1 | |
1912 | 9606 | 20220623 | PHC2 EDR2|HPH2|PH2 | PHC2 polyhomeotic homolog 2 | MIM:602979|HGNC:HGNC:3183|Ensembl:ENSG00000134686|AllianceGenome:HGNC:3183 | 1 1p35.1 | polyhomeotic homolog 2 | protein-coding O | polyhomeotic-like protein 2|early development regulator 2 (homolog of polyhomeotic 2)|early development regulatory protein 2|polyhomeotic 2|polyhomeotic-like 2 | |
1913 | 9606 | 20191002 | EEC1 EEC | MIM:129900 | 7 7q11.2-q21.3 | ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1 | unknown | Ectrodactyly, ectodermal dysplasia, cleft lip/palate, 1 | ||
1914 | 9606 | 20200625 | EEC2 | 19 | ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 2 | unknown | ||||
1915 | 9606 | 20220707 | EEF1A1 CCS-3|CCS3|EE1A1|EEF-1|EEF1A|EF-Tu|EF1A|EF1A1|EF1alpha1|GRAF-1EF|LENG7|PTI1|eEF1A-1 | EEF1A1 eukaryotic translation elongation factor 1 alpha 1 | MIM:130590|HGNC:HGNC:3189|Ensembl:ENSG00000156508|AllianceGenome:HGNC:3189 | 6 6q13 | eukaryotic translation elongation factor 1 alpha 1 | protein-coding O | elongation factor 1-alpha 1|CTCL tumor antigen|EF-1-alpha-1|EF1a-like protein|cervical cancer suppressor 3|elongation factor 1 alpha subunit|elongation factor Tu|epididymis secretory sperm binding protein|eukaryotic elongation factor 1 A-1|eukaryotic translation elongation factor 1 alpha 1-like 14|glucocorticoid receptor AF-1 specific elongation factor|leukocyte receptor cluster (LRC) member 7|leukocyte receptor cluster member 7|prostate tumor-inducing protein 1|translation elongation factor 1 alpha 1-like 14 | |
1917 | 9606 | 20220703 | EEF1A2 DEE33|EEF1AL|EF-1-alpha-2|EF1A|EIEE33|HS1|MRD38|STN|STNL | EEF1A2 eukaryotic translation elongation factor 1 alpha 2 | MIM:602959|HGNC:HGNC:3192|Ensembl:ENSG00000101210|AllianceGenome:HGNC:3192 | 20 20q13.33 | eukaryotic translation elongation factor 1 alpha 2 | protein-coding O | elongation factor 1-alpha 2|eukaryotic elongation factor 1 A-2|statin-S1 | |
1918 | 9606 | 20220513 | EEF1A1P43 EEF1A3 | EEF1A1P43 eukaryotic translation elongation factor 1 alpha 1 pseudogene 43 | HGNC:HGNC:3193|AllianceGenome:HGNC:3193 | 17 17p11.2 | eukaryotic translation elongation factor 1 alpha 1 pseudogene 43 | pseudo O | eukaryotic translation elongation factor 1 alpha 3 | |
1932 | 9606 | 20220530 | EEF1B2P1 EEF1B1|EF1B | EEF1B2P1 eukaryotic translation elongation factor 1 beta 2 pseudogene 1 | HGNC:HGNC:3207|AllianceGenome:HGNC:3207 | 15 15q21.2 | eukaryotic translation elongation factor 1 beta 2 pseudogene 1 | pseudo O | eukaryotic translation elongation factor 1 beta 1 | |
1933 | 9606 | 20220703 | EEF1B2 EEF1B|EEF1B1|EF1B | EEF1B2 eukaryotic translation elongation factor 1 beta 2 | MIM:600655|HGNC:HGNC:3208|Ensembl:ENSG00000114942|AllianceGenome:HGNC:3208 | 2 2q33.3 | eukaryotic translation elongation factor 1 beta 2 | protein-coding O | elongation factor 1-beta|EF-1-beta|eukaryotic translation elongation factor 1 beta 1 | |
1934 | 9606 | 20220513 | EEF1B2P2 BETA-3|EEF-1|EEF-1BETA5A|EEF1B|EEF1B3 | EEF1B2P2 eukaryotic translation elongation factor 1 beta 2 pseudogene 2 | HGNC:HGNC:3209|Ensembl:ENSG00000213864|AllianceGenome:HGNC:3209 | 5 5q13.1 | eukaryotic translation elongation factor 1 beta 2 pseudogene 2 | pseudo O | eukaryotic translation elongation factor 1 beta 3 | |
1936 | 9606 | 20220703 | EEF1D EF-1D|EF1D|FP1047 | EEF1D eukaryotic translation elongation factor 1 delta | MIM:130592|HGNC:HGNC:3211|Ensembl:ENSG00000104529|AllianceGenome:HGNC:3211 | 8 8q24.3 | eukaryotic translation elongation factor 1 delta | protein-coding O | elongation factor 1-delta|EF-1-delta|antigen NY-CO-4|eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) | |
1937 | 9606 | 20220707 | EEF1G EF1G|GIG35 | EEF1G eukaryotic translation elongation factor 1 gamma | MIM:130593|HGNC:HGNC:3213|Ensembl:ENSG00000254772|AllianceGenome:HGNC:3213 | 11 11q12.3 | eukaryotic translation elongation factor 1 gamma | protein-coding O | elongation factor 1-gamma|EF-1-gamma|PRO1608|eEF-1B gamma|pancreatic tumor-related protein|translation elongation factor eEF-1 gamma chain | |
1938 | 9606 | 20220703 | EEF2 EEF-2|EF-2|EF2|SCA26 | EEF2 eukaryotic translation elongation factor 2 | MIM:130610|HGNC:HGNC:3214|Ensembl:ENSG00000167658|AllianceGenome:HGNC:3214 | 19 19p13.3 | eukaryotic translation elongation factor 2 | protein-coding O | elongation factor 2|epididymis secretory sperm binding protein|polypeptidyl-tRNA translocase | |
1939 | 9606 | 20220703 | EIF2D HCA56|LGTN | EIF2D eukaryotic translation initiation factor 2D | MIM:613709|HGNC:HGNC:6583|Ensembl:ENSG00000143486|AllianceGenome:HGNC:6583 | 1 1q32.1 | eukaryotic translation initiation factor 2D | protein-coding O | eukaryotic translation initiation factor 2D|hepatocellular carcinoma-associated antigen 56|ligatin | |
1940 | 9606 | 20191002 | EEGV1 EEGL | MIM:130180 | 20 20q | electro-encephalographic variant pattern 1 | unknown |
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