RBFOX2 RNA binding fox-1 homolog 2

Gene info

Synonyms

HNRBP2, FOX-2, HRNBP2

Previous symbol

RBM9

External ID

HGNC: 9906
Entrez Gene: 23543
Ensembl: ENSG00000100320
UCSC: uc003aok.5
OMIM: 612149
UniProtKB: O43251

Disease info

Disease

None

CHD Phenotype

  • Hypoplastic left heart syndrome

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: no cardiovascular defect recorded

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 RBFOX2.

Selected References

  1. Verma, S. K., Deshmukh, V., Nutter, C. A., Jaworski, E., Jin, W., Wadhwa, L., … Kuyumcu-Martinez, M. N. (2016). Rbfox2 function in RNA metabolism is impaired in hypoplastic left heart syndrome patient hearts. Scientific Reports, 6(1). DOI:10.1038/srep30896 PMID:27485310
  2. Homsy, J., Zaidi, S., Shen, Y., Ware, J. S., Samocha, K. E., Karczewski, K. J., … Chung, W. K. (2015). De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science, 350(6265), 1262–1266. DOI:10.1126/science.aac9396 PMID:26785492