TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2

Gene info

Synonyms

KIAA0733

Previous symbol

MAP3K7IP2

External ID

HGNC: 17075
Entrez Gene: 23118
Ensembl: ENSG00000055208
UCSC: uc063sdy.1
OMIM: 605101
UniProtKB: Q9NYJ8

Disease info

CHD Phenotype

  • Atrial septal defect
  • Persistent ductus arteriosus
  • Pulmonary stenosis
  • Tetralogy of fallot
  • Ventricular septal defect
  • Aortic root dilatation
  • Polyvalvular syndrome

Extra Cardiac Phenotype

None

Incomplete penetrance

No

Variable expressivity

Yes

Animal model

Mouse study

Mouse with endothelial-specific conditional deletion has cardiovascular defects, but no CHD

MGI ID

Variant info

Clinvar

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for TAB2: BED file

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Selected References

  1. Ackerman, J. P., Smestad, J. A., Tester, D. J., Qureshi, M. Y., Crabb, B. A., Mendelsohn, N. J., & Ackerman, M. J. (2016). Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation inTAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome. Congenital Heart Disease, 11(5), 452–461. DOI:10.1111/chd.12400 PMID:27452334
  2. Thienpont, B., Zhang, L., Postma, A. V., Breckpot, J., Tranchevent, L.-C., Van Loo, P., … Larsen, L. A. (2010). Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans. The American Journal of Human Genetics, 86(6), 839–849. DOI:10.1016/j.ajhg.2010.04.011 PMID:20493459
  3. Weiss, K., Applegate, C., Wang, T., & Batista, D. A. S. (2015). FamilialTAB2microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot. American Journal of Medical Genetics Part A, 167(11), 2702–2706. DOI:10.1002/ajmg.a.37210 PMID:26139517