ACVR2B activin A receptor type 2B

Gene info

Synonyms

None

Previous symbol

None

External ID

HGNC: 174
Entrez Gene: 93
Ensembl: ENSG00000114739
UCSC: uc003cif.4
OMIM: 602730
UniProtKB: Q13705

Disease info

Disease

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Atrioventricular septal defect
  • Pulmonary atresia
  • Pulmonic stenosis
  • Mitral atresia
  • Transposition of the great arteries
  • Double outlet right ventricle
  • Heterotaxy
  • Total anomalous pulmonary venous return

Extra Cardiac Phenotype

right-sided spleen, polysplenia, midline liver

Incomplete penetrance

Yes

Variable expressivity

Unknown

Animal model

Mouse study

MGI: Homozygous knockout mouse has CHD

MGI ID

87912

Variant info

Clinvar

ACVR2B

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

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Selected References

  1. Kosaki, R., Gebbia, M., Kosaki, K., Lewin, M., Bowers, P., Towbin, J. A., & Casey, B. (1999). Left-right axis malformations associated with mutations inACVR2B, the gene for human activin receptor type IIB. American Journal of Medical Genetics, 82(1), 70–76. https://doi.org/10.1002/(sici)1096-8628(19990101)82:1<70::aid-ajmg14>3.0.co;2-y DOI:10.1002/(SICI)1096-8628(19990101)82:1<70::AID-AJMG14>3.0.CO;2-Y PMID:9916847
  2. Ma, L., Selamet Tierney, E. S., Lee, T., Lanzano, P., & Chung, W. K. (2011). Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies. Cardiology in the Young, 22(2), 194–201. https://doi.org/10.1017/s1047951111001181 DOI:10.1017/S1047951111001181 PMID:21864452