Gene: TAB2

Alternate names for this Gene: CHTD2|MAP3K7IP2|TAB-2

Gene Summary: The protein encoded by this gene is an activator of MAP3K7/TAK1, which is required for for the IL-1 induced activation of nuclear factor kappaB and MAPK8/JNK. This protein forms a kinase complex with TRAF6, MAP3K7 and TAB1, and it thus serves as an adaptor that links MAP3K7 and TRAF6. This protein, along with TAB1 and MAP3K7, also participates in the signal transduction induced by TNFSF11/RANKl through the activation of the receptor activator of NF-kappaB (TNFRSF11A/RANK), which may regulate the development and function of osteoclasts. Studies of the related mouse protein indicate that it functions to protect against liver damage caused by chemical stressors. Mutations in this gene cause congenital heart defects, multiple types, 2 (CHTD2). Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 6

Location in Chromosome : 6q25.1

Description of this Gene: TGF-beta activated kinase 1 (MAP3K7) binding protein 2

Type of Gene: protein-coding

rs35409891 in TAB2 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

PMID 22383897 2012 This study provides strong evidence for a novel breast cancer susceptibility locus represented by rs9485372, near the TAB2 gene (6q25.1), and identifies two possible susceptibility loci located in the ESR1 gene and 11q24.3, respectively.

rs267607100 in TAB2 gene and CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 PMID 20493459 2010 Haploinsufficiency of TAB2 causes congenital heart defects in humans.

rs2272901 in TAB2 gene and Diverticulitis PMID 28585551 2017 Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis.

rs9485372 in TAB2 gene and Malignant neoplasm of breast PMID 22383897 2012 This study provides strong evidence for a novel breast cancer susceptibility locus represented by rs9485372, near the TAB2 gene (6q25.1), and identifies two possible susceptibility loci located in the ESR1 gene and 11q24.3, respectively.