TGFBR2 transforming growth factor beta receptor 2
Gene info
Synonyms
TBRII, TBR-ii
Previous symbol
MFS2
External ID
HGNC: 11773
Entrez Gene: 7048
Ensembl: ENSG00000163513
UCSC: uc003ceo.4
OMIM:
190182
UniProtKB:
P37173
Disease info
Disease
CHD Phenotype
- Atrial septal defect
- Bicuspid aortic valve
- Patent ductus arteriosus
Extra Cardiac Phenotype
None
Incomplete penetrance
Unknown
Variable expressivity
Unknown
Animal model
Mouse study
Homozygous null mouse has cardiovascular defects, mouse with neural crest-specific conditional deletion 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 TGFBR2: BED file
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Selected References
- Singh, K. K., Rommel, K., Mishra, A., Karck, M., Haverich, A., Schmidtke, J., & Arslan-Kirchner, M. (2006). TGFBR1andTGFBR2mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. Human Mutation, 27(8), 770–777. DOI:10.1002/humu.20354
- Loeys, B. L., Chen, J., Neptune, E. R., Judge, D. P., Podowski, M., Holm, T., … Dietz, H. C. (2005). A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nature Genetics, 37(3), 275–281. DOI:10.1038/ng1511