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9969 MED13

9969

MED13

mediator complex subunit 13

protein-coding

Homo sapiens

基因描述

Type Description
Definition mediator complex subunit 13

研究结论

Date Results Publications
2019-02-02 10:46:00 De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. 29740699
2017-03-11 10:40:00 Each of and MED13 mutations were detected in GC. 27129500
2016-07-30 10:47:00 Data suggest that MED13, MED12, CDK8 and cyclin C (CycC) comprise a four-subunit "kinase" module of the Mediator complex that functions as a major ingress of oncogenic and developmental signaling/gene expression in humans. [REVIEW] 26182352
2015-07-25 10:36:00 Cardiac overexpression of MED13 in transgenic mice confers a lean phenotype that is associated with increased lipid uptake, beta-oxidation and mitochondrial content in white adipose tissue and liver 25422356
2010-06-30 22:04:00 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) 20379614

名称对应

Type IDs
Synonymous ARC250, DRIP250, HSPC221, THRAP1, TRAP240
Gene
UniProtKB-ID: MED13_HUMAN, A0A024QZ75_HUMAN
UniprotKB: Q9UHV7, A0A024QZ75
UniParc: UPI0000D7D6F6
EMBL: AC018628, AF117754, AC060798, AB011165, CH471179, BC140891, AC008158
Ensembl: ENSG00000108510
KO: hsa:9969
Nucleutide sequences
EMBL-CDS: BAA25519.2, EAW51438.1, AAD22032.1, AAI40892.1, EAW51439.1
Gene_ORFName: hCG_32573
Ensembl_TRS: ENST00000397786
Protein sequencees
Ensembl_PRO: ENSP00000380888
RefSeq: XP_011523855.1, NP_005112.2, XP_011523853.1, XP_011523854.1
Others
UniRef100: UniRef100_Q9UHV7
UniRef90: UniRef90_Q9UHV7
UniRef50: UniRef50_Q9UHV7
UniGene: Hs.282678
CCDS: CCDS42366.1

全选

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