GeneID: 54
Names
Common Name: | BMPR1B | Type: | Gene |
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Chromosome: | 4 (NC_000004.12) | Locus: | NG_009245.1 (BMPR1B) |
HUGO Symbol: | BMPR1B | Full Name: | bone morphogenetic protein receptor type 1B |
Exons: | 13 | Introns: | 12 |
Description:
BMPR1B is a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The BMPs are signalling molecules that belong to the transforming growth factor β (TGFβ) family of proteins and participate in several processes including cell growth, development, morphogenesis, apoptosis and immune responses. BMPs transduce signals by binding to heteromeric complexes of type-I and type-II receptors, which in turn activate transcriptional regulators called SMADs. BMPR1B is a type I receptor. Type-II receptors bind ligands but they require their respective type-I receptors for signalling. Polymorphisms in this gene have been associated with glomerular filtration rate in sickle cell nephropathy in African Americans.
Synonyms: ALK6 , CDw293
Comments:
N/A
Number of entries/variants: 6
Publications / Origin
- Nolan VG, Ma Q, Cohen HT, Adewoye A, Rybicki AC, Baldwin C, Mahabir RN, Homan EP, Wyszynski DF, Fabry ME, Nagel RL, Farrer LA, Steinberg MH, Estimated glomerular filtration rate in sickle cell anemia is associated with polymorphisms of bone morphogenetic protein receptor 1B., Am. J. Hematol. , 82(3), 179-84, 2007
- Miyazono K, Kamiya Y, Morikawa M, Bone morphogenetic protein receptors and signal transduction., J. Biochem. , 147(1), 35-51, 2010
A/A | Date | Curator(s) | Comments |
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1 | 2016-04-25 17:47:01 | The IthaGenes Curation Team | Created |
2 | 2016-04-25 17:59:14 | The IthaGenes Curation Team | Reviewed. |