ACVR2B activin A receptor type 2B

Gene info

Synonyms

ActR-IIB

Previous symbol

None

External ID

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

Disease info

CHD Phenotype

  • Atrial septal defect
  • Atrioventricular septal defect
  • Complete atrioventricular canal
  • Double outlet right ventricle
  • Mitral atresia
  • Pulmonary atresia
  • Pulmonary stenosis
  • Total anomalous pulmonary venous return
  • Transposition of the great arteries
  • Ventricular septal defect
  • Right-sided aortic arch
  • Common atrium

Extra Cardiac Phenotype

right-sided spleen, polysplenia, midline liver

Incomplete penetrance

Yes

Variable expressivity

Unknown

Animal model

Mouse study

Homozygous null mouse has 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

No variant passing our criteria was found for ACVR2B.

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. 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(02), 194–201. DOI:10.1017/S1047951111001181 PMID:21864452