BMPR2

(redirected from BMPR-II)

BMPR2

A gene on chromosome 2q33-q34 that encodes a member of the bone morphogenetic protein (BMP)-receptor family of transmembrane serine/threonine kinases, which binds BMPs and plays a central role in endochondral bone formation and embryogenesis. Type-II receptors bind ligands in the absence of type-I receptors, but require their respective type-I receptors for signalling. Type-II receptors phosphorylate and activate type-I receptors, which autophosphorylate then bind and activate SMAD transcriptional regulators.

Molecular pathology
BMPR2 mutations are associated with familial and fenfluramine-associated primary pulmonary hypertension and with pulmonary venoocclusive disease.
References in periodicals archive ?
Secondly, to investigate their effects on the expression of developmental genes including PCNA, BMPR-IB, BMPR-II, FSH-R, CYP17 and ZP3 by real-time RT-PCR.
Real-time RT-PCR: Evaluation of PCNA, BMPR-IB, BMPR-II, FSH-R, CYP17 and ZP3 mRNA in two cultured groups including [FSH.
The BMPR-IB, BMPR-II and FSH-R mRNA level was significantly lower in the [FSH.
Other parts of our molecular results showed BMP15 and FSH supplementation down-regulated the expression of BMPR-IB, BMPR-II and FSH-R in cultured mouse ovaries.
Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-[beta] family.
Functional interaction between BMPR-II and T ctex-1, a light chain of dynein is isoform-specific and disrupted by mutations underlying primary pulmonary hypertension.