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9439 MED23

9439

MED23

mediator complex subunit 23

protein-coding

Homo sapiens

基因描述

Type Description
Definition mediator complex subunit 23

研究结论

Date Results Publications
2019-09-07 11:44:00 intra-tumor heterogeneity data suggest that there could be an under- or over-estimation of the occurrence of MED23 frameshift mutations in microsatellite instability-high colorectal cancers 26152846
2018-12-22 11:08:00 MED23 adopts an arch-shaped conformation, with an N-terminal domain (Nter) protruding from a large core region. 30140054
2017-10-21 11:46:00 This is the first patient with documented refractory epilepsy caused by a novel homozygous pathogenic variant in MED23 expanding the phenotypic spectrum. Identification of the underlying genetic defect in MED23 sheds light on the possible mechanism of complete response to the ketogenic diet in this child. 27311965
2017-07-29 10:47:00 a 7-gene signature was identified which correctly predicted the primary prefibrotic myelofibrosis group with a sensitivity of 100% and a specificity of 89%. The 7 genes included MPO, CEACAM8, CRISP3, MS4A3, CEACAM6, HEMGN, and MMP8 27579896
2017-05-27 11:52:00 Higher l-arginine was associated with higher risk of Ischemic heart disease (odds ratio and of myocardial infarction, based on 2 SNPs from MED23. 27914500

名称对应

Type IDs
Synonymous ARC130, CRSP130, CRSP133, CRSP3, DRIP130, MRT18, SUR-2, SUR2
Gene
UniProtKB-ID: MED23_HUMAN, Q05DL5_HUMAN
UniprotKB: Q9ULK4, Q05DL5
UniParc: UPI000002A737, UPI000191F62F, UPI0000D491EE, UPI00015C73ED, UPI0000470A9D, UPI000002A736, UPI000012855F
EMBL: AF104255, AL121575, EU392526, AB033042, BC060759, AL136776, AF135022, AF105332, BC007088, CH471051
Ensembl: ENSG00000112282
KO: hsa:9439
Nucleutide sequences
EMBL-CDS: AAH60759.1, EAW48052.1, CAB66710.1, AAD31729.1, AAD30202.1, BAA86530.1, ACB88854.1, AAD12724.1, AAH07088.1
Ensembl_TRS: ENST00000368053, ENST00000539158, ENST00000368060, ENST00000368068, ENST00000354577
Protein sequencees
Ensembl_PRO: ENSP00000445072, ENSP00000357032, ENSP00000346588, ENSP00000357047, ENSP00000357039
RefSeq: NP_001363446.1, XP_006715675.1, NP_001363447.1, NP_001257451.1, NP_001363452.1, NP_057063.2, NP_001363451.1, NP_004821.2, NP_001257450.1, XP_016866990.1, NP_001363449.1, XP_011534559.1, NP_001363450.1, NP_001363448.1, NP_001363453.1
Others
UniRef100: UniRef100_Q9ULK4, UniRef100_Q05DL5
UniRef90: UniRef90_Q05DL5, UniRef90_Q9ULK4
UniRef50: UniRef50_Q9ULK4, UniRef50_Q05DL5
UniGene: Hs.29679
CCDS: CCDS5147.1, CCDS59039.1, CCDS5146.1

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