TAB2 Chromosome 6
TGF-beta activated kinase 1 (MAP3K7) binding protein 2
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What This Gene Does
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. [provided by RefSeq, May 2014]
Gene Info
Gene Group
Zinc fingers RANBP2-type
Locus Type
gene with protein product
Location
6q25.1
Ensembl
ENSG00000055208
Associated Conditions (16)
Inborn genetic diseases
Familial cancer of breast
Congenital heart defects
multiple types
2
TAB2-related disorder
Primary dilated cardiomyopathy
Atrial septal defect
ostium secundum type
Migraine
Stress urinary incontinence
Rectal prolapse
Bicuspid aortic valve
Encephalopathy
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation
Polyvalvular heart disease syndrome
Key Variants
RS139897844
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143213478
Conflicting classifications of pathogenicity
Familial cancer of breast, Familial cancer of breast
Health Risk
RS559771770
Conflicting classifications of pathogenicity
Health Risk
RS758431534
Conflicting classifications of pathogenicity
Health Risk
RS893206762
Conflicting classifications of pathogenicity
Health Risk
RS1057517934
Likely pathogenic
Health Risk
RS1057518015
Likely pathogenic
Health Risk
RS1554263268
Likely pathogenic
Congenital heart defects, multiple types, 2
Health Risk
RS1781533816
Likely pathogenic
Congenital heart defects, multiple types, 2
Health Risk
RS2114885325
Likely pathogenic
Congenital heart defects, multiple types, 2
Health Risk
RS2114886711
Likely pathogenic
Congenital heart defects, multiple types, 2
Health Risk
RS2483348418
Likely pathogenic
TAB2-related disorder, TAB2-related disorder
Health Risk
All Variants (60)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2483489255 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 2 |
| RS267607101 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 2 |
| RS886041646 | Health Risk | Pathogenic | — |
| RS1057518422 | Health Risk | Pathogenic/Likely pathogenic | Atrial septal defect, ostium secundum type, Migraine |
| RS1479104927 | Health Risk | Pathogenic/Likely pathogenic | Congenital heart defects, multiple types, 2 |
| RS1782216591 | Health Risk | Pathogenic/Likely pathogenic | TAB2-related disorder, TAB2-related disorder |
| RS1782223593 | Health Risk | Pathogenic/Likely pathogenic | Congenital heart defects, multiple types, 2 |
| RS2114885719 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2114887873 | Health Risk | Pathogenic/Likely pathogenic | Congenital heart defects, multiple types, 2 |
| RS2114941534 | Health Risk | Pathogenic/Likely pathogenic | — |