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Gene : BMPR1B Homo sapiens

Name  ? bone morphogenetic protein receptor type 1B Cytological Location  4q22.3
Brief Description  bone morphogenetic protein receptor type 1B
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 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]
  • synonyms:
  • ALK-6,
  • ALK6,
  • CDw293,
  • NM_001203,
  • BDA2,
  • OTTHUMG00000130991,
  • BMPR1B,
  • CDw293,
  • HGNC:1077,
  • ALK6,
  • BDA1D,
  • uc003htm.5,
  • D89675,
  • AMDD,
  • bone morphogenetic protein receptor, type IB
  • identifiers:
  • 658,
  • ENSG00000138696,
  • BMPR1B

Genome feature

Region: gene ? Length: 400499  
Location: 4:94757955-95158453 Cyto location: 4q22.3


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Disease

3 Diseases

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3756 SN Ps

5 Cross References

19 Data Sets

17 Homologues

0 Located Features

97 Rna Seq Results