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23118 TAB2

23118

TAB2

TGF-beta activated kinase 1 (MAP3K7) binding protein 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition TGF-beta activated kinase 1 (MAP3K7) binding protein 2

研究结论

Date Results Publications
2021-01-02 12:49:00 A single nucleotide deletion resulting in a frameshift in exon 4 of TAB2 is associated with a polyvalular syndrome. 31981616
2020-03-14 10:45:00 we deeply dissect the molecular pathogenesis of the TAB2 c.1398dup variant and show that the resulting phenotype is well explained by TAB2 loss-of-function. Our data also offer initial insights on the ECM homeostasis impairment as a molecular mechanism probably underlying a multisystem disorder linked to TAB2. 31250519
2020-02-15 13:19:00 rs237028 polymorphism in the TAB2 gene was associated with epithelial ovarian cancer susceptibility in Chinese population. 31485280
2019-10-19 11:23:00 multiple GPCR agonists utilize non-canonical TAB1-TAB2 and TAB1-TAB3-dependent p38 activation to promote endothelial inflammatory responses. 30760523
2018-08-11 10:10:00 Data indicate an association between TAK1-binding protein 2 (TAB2) mutations and a connective tissue disorder with severe polyvalvular heart disease and subtle facial dysmorphism. 28386937

名称对应

Type IDs
Synonymous CHTD2, MAP3K7IP2, TAB-2
Gene
UniProtKB-ID: TAB2_HUMAN, B4DIR9_HUMAN
UniprotKB: Q9NYJ8, B4DIR9
UniParc: UPI0000072F70, UPI00017A71F8, UPI0000073C75
EMBL: DQ314877, BC035910, AL031133, CR457387, AL117407, AF241230, AK315038, CH471051, AL138727, AK295750, AB018276, AL139103
Ensembl: ENSG00000055208
KO: hsa:23118
Nucleutide sequences
EMBL-CDS: AAF67176.1, CAB55907.1, EAW47805.1, CAG33668.1, EAW47806.1, AAH35910.1, EAW47807.1, BAA34453.2, ABC40736.1, BAG37521.1, BAG58581.1
Ensembl_TRS: ENST00000367456, ENST00000538427, ENST00000637181, ENST00000470466
Protein sequencees
Ensembl_PRO: ENSP00000445752, ENSP00000432709, ENSP00000490618, ENSP00000356426
RefSeq: NP_055908.1, NP_001278963.1, XP_011533935.1, NP_001356435.1, XP_016866081.1, NP_001278964.1
Others
UniRef100: UniRef100_Q9NYJ8, UniRef100_B4DIR9
UniRef90: UniRef90_F6VE69, UniRef90_Q9NYJ8
UniRef50: UniRef50_Q9NYJ8
UniGene: Hs.269775
CCDS: CCDS5214.1

全选

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