基因ID | taxid | GeneDate LocusTag | Symbol Synonyms | Symbolfna Fullnamefna | dbXrefs | chromosome maplocation | description | genetype fnastatus | Otherdesignations | Featuretype |
8034 | 9606 | 20220513 | SLC25A16 D10S105E|GDA|GDC|HGT.1|ML7|hML7 | SLC25A16 solute carrier family 25 member 16 | MIM:139080|HGNC:HGNC:10986|Ensembl:ENSG00000122912|AllianceGenome:HGNC:10986 | 10 10q21.3 | solute carrier family 25 member 16 | protein-coding O | graves disease carrier protein|mitochondrial solute carrier protein homolog|solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16 | |
8036 | 9606 | 20220612 | SHOC2 NSLH1|SIAA0862|SOC2|SUR8 | SHOC2 SHOC2 leucine rich repeat scaffold protein | MIM:602775|HGNC:HGNC:15454|Ensembl:ENSG00000108061|AllianceGenome:HGNC:15454 | 10 10q25.2 | SHOC2 leucine rich repeat scaffold protein | protein-coding O | leucine-rich repeat protein SHOC-2|soc-2 suppressor of clear homolog | |
8038 | 9606 | 20220513 | ADAM12 ADAM12-OT1|CAR10|MCMP|MCMPMltna|MLTN|MLTNA | ADAM12 ADAM metallopeptidase domain 12 | MIM:602714|HGNC:HGNC:190|Ensembl:ENSG00000148848|AllianceGenome:HGNC:190 | 10 10q26.2 | ADAM metallopeptidase domain 12 | protein-coding O | disintegrin and metalloproteinase domain-containing protein 12|meltrin-alpha|metalloprotease-disintegrin 12 transmembrane | |
8039 | 9606 | 20170402 | PROA | MIM:176770 | Proline(-) auxotroph, complementation of | unknown | ||||
8045 | 9606 | 20220513 | RASSF7 C11orf13|CFAP88|FAP88|HRAS1|HRC1 | RASSF7 Ras association domain family member 7 | MIM:143023|HGNC:HGNC:1166|Ensembl:ENSG00000099849|AllianceGenome:HGNC:1166 | 11 11p15.5 | Ras association domain family member 7 | protein-coding O | ras association domain-containing protein 7|HRAS1-related cluster protein 1|HRAS1-related cluster-1|Ras association (RalGDS/AF-6) domain family (N-terminal) member 7|Ras association (RalGDS/AF-6) domain family 7 | |
8048 | 9606 | 20220522 | CSRP3 CLP|CMD1M|CMH12|CRP3|LMO4|MLP | CSRP3 cysteine and glycine rich protein 3 | MIM:600824|HGNC:HGNC:2472|Ensembl:ENSG00000129170|AllianceGenome:HGNC:2472 | 11 11p15.1 | cysteine and glycine rich protein 3 | protein-coding O | cysteine and glycine-rich protein 3|LIM domain only 4|cardiac LIM domain protein|cysteine and glycine-rich protein 3 (cardiac LIM protein) | |
8050 | 9606 | 20220723 | PDHX DLDBP|E3BP|OPDX|PDHXD|PDX1|proX | PDHX pyruvate dehydrogenase complex component X | MIM:608769|HGNC:HGNC:21350|Ensembl:ENSG00000110435|AllianceGenome:HGNC:21350 | 11 11p13 | pyruvate dehydrogenase complex component X | protein-coding O | pyruvate dehydrogenase protein X component, mitochondrial|dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex|lipoyl-containing pyruvate dehydrogenase complex component X|pyruvate dehydrogenase complex, E3-binding protein subunit|pyruvate dehydrogenase complex, lipoyl-containing component X | |
8056 | 9606 | 20170402 | ECB2 FBP | MIM:263400 | 11 11q23 | erythrocytosis, autosomal recessive benign 2 | unknown | |||
8061 | 9606 | 20220623 | FOSL1 FRA|FRA1|fra-1 | FOSL1 FOS like 1, AP-1 transcription factor subunit | MIM:136515|HGNC:HGNC:13718|Ensembl:ENSG00000175592|AllianceGenome:HGNC:13718 | 11 11q13.1 | FOS like 1, AP-1 transcription factor subunit | protein-coding O | fos-related antigen 1|FOS like 1, AP-1 trancription factor subunit|FOS-like antigen-1 | |
8065 | 9606 | 20220703 | CUL5 CUL-5|VACM-1|VACM1 | CUL5 cullin 5 | MIM:601741|HGNC:HGNC:2556|Ensembl:ENSG00000166266|AllianceGenome:HGNC:2556 | 11 11q22.3 | cullin 5 | protein-coding O | cullin-5|Cullin-5 (vasopressin-activated calcium-mobilizing receptor-1)|Vasopressin-activated calcium-mobilizing receptor-1|vasopressin-activated calcium-mobilizing receptor 1 | |
8066 | 9606 | 20190816 | ANC | MIM:105580 | 11 11q22-qter | Anal canal carcinoma | unknown | |||
8068 | 9606 | 20171115 | BRCATA | MIM:600048 | Breast cancer, 11;22 translocation associated | unknown | ||||
8073 | 9606 | 20220522 | PTP4A2 HH13|HH7-2|HU-PP-1|OV-1|PRL-2|PRL2|PTP4A|PTPCAAX2|ptp-IV1a|ptp-IV1b | PTP4A2 protein tyrosine phosphatase 4A2 | MIM:601584|HGNC:HGNC:9635|Ensembl:ENSG00000184007|AllianceGenome:HGNC:9635 | 1 1p35.2 | protein tyrosine phosphatase 4A2 | protein-coding O | protein tyrosine phosphatase type IVA 2|PTP(CAAXII)|phosphatase of regenerating liver 2|protein tyrosine phosphatase IVA|protein tyrosine phosphatase IVA2|protein tyrosine phosphatase type IVA, member 2|protein-tyrosine phosphatase of regenerating liver 2 | |
8074 | 9606 | 20220710 | FGF23 ADHR|FGFN|HFTC2|HPDR2|HYPF|PHPTC | FGF23 fibroblast growth factor 23 | MIM:605380|HGNC:HGNC:3680|Ensembl:ENSG00000118972|AllianceGenome:HGNC:3680 | 12 12p13.32 | fibroblast growth factor 23 | protein-coding O | fibroblast growth factor 23|phosphatonin|tumor-derived hypophosphatemia inducing factor | |
8076 | 9606 | 20220513 | MFAP5 AAT9|MAGP-2|MAGP2|MFAP-5|MP25 | MFAP5 microfibril associated protein 5 | MIM:601103|HGNC:HGNC:29673|Ensembl:ENSG00000197614|AllianceGenome:HGNC:29673 | 12 12p13.31 | microfibril associated protein 5 | protein-coding O | microfibrillar-associated protein 5|THE1A-MFAP5|microfibril-associated glycoprotein-2|microfibrillar associated protein 5 | |
8078 | 9606 | 20220703 | USP5 ISOT | USP5 ubiquitin specific peptidase 5 | MIM:601447|HGNC:HGNC:12628|Ensembl:ENSG00000111667|AllianceGenome:HGNC:12628 | 12 12p13.31 | ubiquitin specific peptidase 5 | protein-coding O | ubiquitin carboxyl-terminal hydrolase 5|deubiquitinating enzyme 5|isopeptidase T|testicular tissue protein Li 218|ubiquitin isopeptidase T|ubiquitin specific protease 5 (isopeptidase T)|ubiquitin thioesterase 5|ubiquitin thiolesterase 5|ubiquitin-specific protease-5 (ubiquitin isopeptidase T)|ubiquitin-specific-processing protease 5 | |
8079 | 9606 | 20220703 | MLF2 NTN4 | MLF2 myeloid leukemia factor 2 | MIM:601401|HGNC:HGNC:7126|Ensembl:ENSG00000089693|AllianceGenome:HGNC:7126 | 12 12p13.31 | myeloid leukemia factor 2 | protein-coding O | myeloid leukemia factor 2|myelodysplasia-myeloid leukemia factor 2 | |
8080 | 9606 | 20170408 | HTNB | MIM:112410 | hypertension with brachydactyly | unknown | ||||
8081 | 9606 | 20191002 | AD5 | MIM:602096 | 12 12p11.23-q13.12 | Alzheimer disease 5 | unknown | Alzheimer disease, familial, type 5 | ||
8082 | 9606 | 20220522 | SSPN DAGA5|KRAG|NSPN|SPN1|SPN2 | SSPN sarcospan | MIM:601599|HGNC:HGNC:11322|Ensembl:ENSG00000123096|AllianceGenome:HGNC:11322 | 12 12p12.1 | sarcospan | protein-coding O | sarcospan|K-ras oncogene-associated protein|Kras oncogene-associated|kirsten-ras-associated protein|microspan|nanospan|sarcospan (Kras oncogene-associated gene) | |
8085 | 9606 | 20220707 | KMT2D AAD10|ALR|CAGL114|KABUK1|KMS|MLL2|MLL4|TNRC21 | KMT2D lysine methyltransferase 2D | MIM:602113|HGNC:HGNC:7133|Ensembl:ENSG00000167548|AllianceGenome:HGNC:7133 | 12 12q13.12 | lysine methyltransferase 2D | protein-coding O | histone-lysine N-methyltransferase 2D|ALL1-related protein|Kabuki make-up syndrome|histone-lysine N-methyltransferase MLL2|lysine (K)-specific methyltransferase 2D|lysine N-methyltransferase 2D|myeloid/lymphoid or mixed-lineage leukemia 2|trinucleotide repeat containing 21 | |
8086 | 9606 | 20220703 | AAAS AAA|AAASb|ADRACALA|ADRACALIN|ALADIN|GL003 | AAAS aladin WD repeat nucleoporin | MIM:605378|HGNC:HGNC:13666|Ensembl:ENSG00000094914|AllianceGenome:HGNC:13666 | 12 12q13.13 | aladin WD repeat nucleoporin | protein-coding O | aladin|Allgrove, triple-A|achalasia, adrenocortical insufficiency, alacrimia | |
8087 | 9606 | 20220719 | FXR1 FXR1P|MYOPMIL|MYORIBF | FXR1 FMR1 autosomal homolog 1 | MIM:600819|HGNC:HGNC:4023|Ensembl:ENSG00000114416|AllianceGenome:HGNC:4023 | 3 3q26.33 | FMR1 autosomal homolog 1 | protein-coding O | fragile X mental retardation syndrome-related protein 1 | |
8089 | 9606 | 20220707 | YEATS4 4930573H17Rik|B230215M10Rik|GAS41|NUBI-1|YAF9 | YEATS4 YEATS domain containing 4 | MIM:602116|HGNC:HGNC:24859|Ensembl:ENSG00000127337|AllianceGenome:HGNC:24859 | 12 12q15 | YEATS domain containing 4 | protein-coding O | YEATS domain-containing protein 4|NuMA binding protein 1|glioma-amplified sequence 41|nuBI1 | |
8090 | 9606 | 20200625 | SPPM SPMD | MIM:181430 | 12 | scapuloperoneal syndrome, myopathic type | unknown | |||
8091 | 9606 | 20220707 | HMGA2 BABL|HMGI-C|HMGIC|LIPO|SRS5|STQTL9 | HMGA2 high mobility group AT-hook 2 | MIM:600698|HGNC:HGNC:5009|Ensembl:ENSG00000149948|AllianceGenome:HGNC:5009 | 12 12q14.3 | high mobility group AT-hook 2 | protein-coding O | high mobility group protein HMGI-C|HMGA2/KRT121P fusion | |
8092 | 9606 | 20220703 | ALX1 CART1|FND3|HEL23 | ALX1 ALX homeobox 1 | MIM:601527|HGNC:HGNC:1494|Ensembl:ENSG00000180318|AllianceGenome:HGNC:1494 | 12 12q21.31 | ALX homeobox 1 | protein-coding O | ALX homeobox protein 1|CART-1|cartilage paired-class homeoprotein 1|epididymis luminal protein 23 | |
8093 | 9606 | 20170726 | MGCT | MIM:273300 | male germ cell tumor | unknown | ||||
8094 | 9606 | 20170402 | SMAL | MIM:600175 | spinal muscular atrophy, congenital nonprogressive, of lower limbs | unknown | ||||
8099 | 9606 | 20220513 | CDK2AP1 DOC1|DORC1|ST19|doc-1|p12DOC-1 | CDK2AP1 cyclin dependent kinase 2 associated protein 1 | MIM:602198|HGNC:HGNC:14002|Ensembl:ENSG00000111328|AllianceGenome:HGNC:14002 | 12 12q24.31 | cyclin dependent kinase 2 associated protein 1 | protein-coding O | cyclin-dependent kinase 2-associated protein 1|CDK2-associated protein 1|Deleted in oral cancer-1|deleted in oral cancer 1|putative oral cancer suppressor | |
8100 | 9606 | 20220703 | IFT88 D13S1056E|DAF19|TG737|TTC10|hTg737 | IFT88 intraflagellar transport 88 | MIM:600595|HGNC:HGNC:20606|Ensembl:ENSG00000032742|AllianceGenome:HGNC:20606 | 13 13q12.11 | intraflagellar transport 88 | protein-coding O | intraflagellar transport protein 88 homolog|TPR repeat protein 10|intraflagellar transport 88 homolog|polaris homolog|probe hTg737 (polycystic kidney disease, autosomal recessive)|recessive polycystic kidney disease protein Tg737 homolog|testicular tissue protein Li 93|tetratricopeptide repeat domain 10|tetratricopeptide repeat protein 10 | |
8101 | 9606 | 20190816 | CLLS2 D13S25|DBM | MIM:109543 | 13 13q14 | Disrupted in B-cell neoplasia | unknown | |||
8102 | 9606 | 20190816 | XRS | MIM:194370 | 13 13q14 | X-ray sensitivity | unknown | |||
8103 | 9606 | 20190816 | PAPA2 | MIM:602085 | 13 13q21-q32 | postaxial polydactyly, type A2 | unknown | |||
8104 | 9606 | 20190816 | MCOR C13DELq32|DEL13q32 | MIM:156600 | 13 13q32 | microcoria, congenital | unknown | |||
8105 | 9606 | 20170402 | BRCD1 BCDS1 | MIM:114450 | cancer, familial, with in vitro radioresistance | unknown | Breast cancer, ductal, suppressor-1 | |||
8106 | 9606 | 20220703 | PABPN1 OPMD|PAB2|PABII|PABP-2|PABP2 | PABPN1 poly(A) binding protein nuclear 1 | MIM:602279|HGNC:HGNC:8565|Ensembl:ENSG00000100836|AllianceGenome:HGNC:8565 | 14 14q11.2 | poly(A) binding protein nuclear 1 | protein-coding O | polyadenylate-binding protein 2|poly(A) binding protein 2|poly(A) binding protein II | |
8110 | 9606 | 20220707 | DPF3 BAF45C|CERD4|SMARCG3 | DPF3 double PHD fingers 3 | MIM:601672|HGNC:HGNC:17427|Ensembl:ENSG00000205683|AllianceGenome:HGNC:17427 | 14 14q24.2 | double PHD fingers 3 | protein-coding O | zinc finger protein DPF3|BRG1-associated factor 45C|D4, zinc and double PHD fingers, family 3|zinc finger protein cer-d4 | |
8111 | 9606 | 20220522 | GPR68 AI2A6|GPR12A|OGR1 | GPR68 G protein-coupled receptor 68 | MIM:601404|HGNC:HGNC:4519|Ensembl:ENSG00000119714|AllianceGenome:HGNC:4519 | 14 14q32.11 | G protein-coupled receptor 68 | protein-coding O | ovarian cancer G-protein coupled receptor 1|ovarian cancer G protein-coupled receptor, 1|sphingosylphosphorylcholine receptor | |
8113 | 9606 | 20190816 | MCOP1 MCOP | MIM:251600 | 14 14q32 | microphthalmia, autosomal recessive | unknown | |||
8114 | 9606 | 20191002 | IV SIV | MIM:270100 | 14 14q32 | inversus situs, viscerum | unknown | |||
8115 | 9606 | 20220522 | TCL1A TCL1 | TCL1A TCL1 family AKT coactivator A | MIM:186960|HGNC:HGNC:11648|Ensembl:ENSG00000100721|AllianceGenome:HGNC:11648 | 14 14q32.13 | TCL1 family AKT coactivator A | protein-coding O | T-cell leukemia/lymphoma protein 1A|T cell leukemia/lymphoma 1A|T-cell lymphoma-1|oncogene TCL-1|oncogene TCL1|protein p14 TCL1 | |
8120 | 9606 | 20220703 | AP3B2 DEE48|EIEE48|NAPTB | AP3B2 adaptor related protein complex 3 subunit beta 2 | MIM:602166|HGNC:HGNC:567|Ensembl:ENSG00000103723|AllianceGenome:HGNC:567 | 15 15q25.2 | adaptor related protein complex 3 subunit beta 2 | protein-coding O | AP-3 complex subunit beta-2|Neuronal adaptin-like protein, beta-subunit|adaptor protein complex AP-3 subunit beta-2|adaptor related protein complex 3 beta 2 subunit|beta-3B-adaptin|clathrin assembly protein complex 3 beta-2 large chain|neuron-specific vesicle coat protein beta-NAP | |
8123 | 9606 | 20220513 | PWAR5 D15S226E|PAR-5|PAR5 | PWAR5 Prader Willi/Angelman region RNA 5 | MIM:600162|HGNC:HGNC:30090|Ensembl:ENSG00000279192|AllianceGenome:HGNC:30090 | 15 15q11.2 | Prader Willi/Angelman region RNA 5 | ncRNA O | Prader-Willi/Angelman syndrome-5 | |
8125 | 9606 | 20220703 | ANP32A C15orf1|HPPCn|I1PP2A|LANP|MAPM|PHAP1|PHAPI|PP32 | ANP32A acidic nuclear phosphoprotein 32 family member A | MIM:600832|HGNC:HGNC:13233|Ensembl:ENSG00000140350|AllianceGenome:HGNC:13233 | 15 15q23 | acidic nuclear phosphoprotein 32 family member A | protein-coding O | acidic leucine-rich nuclear phosphoprotein 32 family member A|acidic (leucine-rich) nuclear phosphoprotein 32 family, member A|acidic nuclear phosphoprotein pp32|cerebellar leucine rich acidic nuclear protein|epididymis secretory sperm binding protein|hepatopoietin Cn|inhibitor-1 of protein phosphatase-2A|leucine-rich acidic nuclear protein|mapmodulin|potent heat-stable protein phosphatase 2A inhibitor I1PP2A|putative HLA-DR-associated protein I|putative human HLA class II associated protein I | |
8126 | 9606 | 20190816 | MRST | MIM:602685 | 15 15q24 | Mental retardation, severe, with spasticity and tapetoretinal | unknown | |||
8128 | 9606 | 20220522 | ST8SIA2 HsT19690|SIAT8-B|SIAT8B|ST8SIA-II|ST8SiaII|STX | ST8SIA2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 | MIM:602546|HGNC:HGNC:10870|Ensembl:ENSG00000140557|AllianceGenome:HGNC:10870 | 15 15q26.1 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 | protein-coding O | alpha-2,8-sialyltransferase 8B|ST8 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase 2|alpha-2,8-sialyltransferase 8B 1|sialyltransferase 8 (alpha-2, 8-sialytransferase) B|sialyltransferase 8B|sialyltransferase St8Sia II|sialyltransferase X | |
8129 | 9606 | 20220619 | HBHR ATR1 | MIM:141750 | 16 16pter-p13.3 | alpha-thalassemia/mental retardation syndrome, type 1 | unknown | |||
8130 | 9606 | 20170408 | MCOPCT1 CATM | MIM:156850 | 16 16p13.3 | cataract, congenital, with microphthalmia | unknown | |||
8131 | 9606 | 20220513 | NPRL3 C16orf35|CGTHBA|FFEVF3|HS-40|MARE|NPR3|RMD11 | NPRL3 NPR3 like, GATOR1 complex subunit | MIM:600928|HGNC:HGNC:14124|Ensembl:ENSG00000103148|AllianceGenome:HGNC:14124 | 16 16p13.3 | NPR3 like, GATOR1 complex subunit | protein-coding O | GATOR complex protein NPRL3|-14 gene protein|alpha-globin regulatory element-containing gene protein|conserved gene telomeric to alpha globin cluster |
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