BMPR1B

Name

bone morphogenetic protein receptor type 1B

Type

protein-coding

Position

94,757,937–95,158,449 (+)

Aliases

ALK-6, ALK6, AMD3, AMDD, BDA1D, BDA2, CDw293

Ensembl

ENSG00000138696

RefSeq RNA

NM_001203.3, NM_001256792.2, NM_001256793.2, NM_001256794.1, XM_011532201.3

RefSeq protein

NP_001194.1, NP_001243721.1, NP_001243722.1, NP_001243723.1, XP_011530503.1

This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which 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 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012].

via MyGene.info

Gene · Ensembl

bone morphogenetic protein receptor type 1B

Symbol

BMPR1B

Biotype

Protein coding

Organism

Homo sapiens

Location

4:94,757,937-95,158,449

Strand

Forward (+)

Assembly

GRCh38