Bone Morphogenetic Protein Receptor, Type II

Alternative Names

  • BMPR2
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OMIM Number

600799

NCBI Gene ID

659

Uniprot ID

Q13873

Length

191,442 bases

No. of Exons

13

No. of isoforms

2

Protein Name

Bone morphogenetic protein receptor type-2

Molecular Mass

115201 Da

Amino Acid Count

1038

Genomic Location

chr2:202,376,309-202,567,750

Gene Map Locus
2q33.1-q33.2

Description

This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001204.6:c.532G>CUnited Arab EmiratesNC_000002.12:g.202514890G>CUncertain SignificanceNG_009363.1:g.143564G>C; NM_001204.6:c.532G>C; NP_001195.2:p.Asp178His
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