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
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
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.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
Download annotation file for ACVR2B: BED file
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Selected References
- 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
- 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