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 ?
BMP15 controls many aspects of follicular development by binding to its two receptors including serine-threonine kinase type I (BMPR-IB) and type II (BMPR-II) on the surface of granulosa cells (5, 6).
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.sup.+]/[BMP15.sup.+] and [FSH.sup.+]/[BMP15.sup.-] (which has higher percentage of growing follicles) and non-cultured ovaries as control (14 and 21 day mouse ovaries) were done by real-time RT-PCR (at least 3 repeats).
Real time RT-PCR analysis: The relative expression of PCNA, BMPR-IB, BMPR-II, FSH-R, CYP17 and ZP3 genes compared with the house-keeping gene (GAPDH) in all groups is shown in figure 3.
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.
A nivel de superficie celular, el dimero de BMP se une al receptor tipo I (activin receptor-like kinase; ALK2, ALK3, o ALK6) y al receptor tipo II (BMPR-II, ActR-IIA, o ActRIIB) para la formacion de complejos heteromericos.
The type II receptor subfamily includes the TGF-[beta] type II receptor (T[beta]RII), the type 2 BMP receptor (BMPR-II), the antimullerian hormone receptor (AMHR), and the type II and type III activin receptors (ActR-II and IIB).
Kirpilma tipi (truncating) mutasyonlara nazaran, BMPR-II'nin sitoplazmik bolgesinde aminoasit degisiklikleri ile seyreden mutasyon tipleri nadir gorulur.
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.