What is the BMPR2 gene?
Full Name: bone morphogenetic protein receptor type II (serine/threonine kinase) [Homo sapiens]
Accession number: NM_001204.6
12086 bp
FASTA Form
Accession number: NM_001204.6
12086 bp
FASTA Form
BMPR2 is an official symbol of Bone Morphogenetic Protein Receptor, type II (serine/threonine kinase).
BMPR2 regulates growth and differentiation of various cell types. BMPR2 encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases.
Mutations such as Frameshift, Nonsense and Missense in the BMPR2 gene confers about a 17% chance of developing PAH in a carrier's lifetime.
BMPR2 regulates growth and differentiation of various cell types. BMPR2 encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases.
Mutations such as Frameshift, Nonsense and Missense in the BMPR2 gene confers about a 17% chance of developing PAH in a carrier's lifetime.
Identification of BMPR2 mutations in patients with PAH
PAH can be diagnosed by RNA prep, requiring RNA, or DNA prep, using genomic DNA.
References
- Header Image: http://ghr.nlm.nih.gov/dynamicImages/chromomap/BMPR2.jpeg
- http://www.genecards.org/pics/loc/BMPR2-gene.png
- UCSF School of Medicine: Genes and Genomes Online Learning Module. (n.d.). UCSF School of Medicine: Genes and Genomes Online Learning Module. Retrieved May 16, 2014, from http://missinglink.ucsf.edu/lm/genes_and_genomes/content.html
- Pulmonary arterial hypertension. (n.d.). - Genetics Home Reference. Retrieved May 17, 2014, from http://ghr.nlm.nih.gov/condition/pulmonary-arterial-hypertension
- Result Filters. (n.d.). National Center for Biotechnology Information. Retrieved May 19, 2014, from http://www.ncbi.nlm.nih.gov/nuccore/NM_001204.6