BMPR2


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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 ?
Functional mutations in 5'UTRof the BMPR2 gene identified in Chinese families with pulmonary arterial hypertension.
Temporal regulation of BMP2, BMP6, BMP15, GDF9, BMPR1A, BMPR1B, BMPR2 and TGFBR1 mRNA expression in the oocyte, granulosa and theca cells of developing preovulatory follicles in the pig.
Besides mutations in the BMPR2, ALK1, and ENG genes, rare mutations that account for approximately 5% of the heritable PAHs included SMAD9, caveolin 1 (CAV1), and potassium channel, subfamily K, member 3 (KCNK3) genes.
Interestingly, expression of mutant BMPR2 in mice resulted in increased hypoxia inducible factor (HIF)1A stabilization allowing for activation of HIF inducible transcripts [58].
[101] were the first to evaluate the expression of BMP-4 and BMPR2 mRNAs in fresh isolates of adult human RPE cells, their primary cultures, and the ARPE-19 cell line.
Specifically, brain-derived neurotrophic factor (BDNF), bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2), calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), casein kinase 1, delta (CSNK1D), high mobility group AT-hook 2 (HMGA2), heat shock transcription factor 2 (HSF2), heat shock 105kDa/110kDa protein 1 (HSPH1), and Pim-1 oncogene (PIM1) were present within the four most significant networks associated with the identified miRNA targets (Figure 2).
Components identified from the arrayed clones of the EST collection include bmp2/4, bmp5-8, twg, cv-2, xolloid/tolloid, chordin, noggin, follistatin, gremlin1, gremlin2, neuralin, dan, kielin-like, bmpR1B, bmpR2, bambi, smad1/5, smad4, smad6/7, smurf, and tak.
The BMP receptors are a family of transmembrane serine/threonine kinases that include the type I receptors Bmpr1a and Bmpr1b , and the type II receptor Bmpr2 .[20] Deletion of the receptor Bmpr1a in the osteoblast lineage cells with a Dmp1 -Cre caused a dramatic increase in trabecular bone mass in postnatal mice, which was due to a marked increase in osteoblast numbers.
Diverse inherited autosomal-dominant mutations in the BMPR2 gene underlie a significant subset of IPAH cases, but with low penetrance [1-4, 6-8].
Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension.
For example, miR-335 could regulate 7 genes, namely, DCN, FST, THBS1, RBL1, ACVR2A, LTBP1, and BMPR2, while THBS1 was also regulated by miR-708, where the two miRNAs had different regulated directions in DFs (Figure 5).