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Gene : BMPR2 Homo sapiens

Name  ? bone morphogenetic protein receptor type 2 Cytological Location  2q33.1-q33.2
Brief Description  bone morphogenetic protein receptor type 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 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 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. 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, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, Jul 2008]
  • synonyms:
  • BMPR3,
  • bone morphogenetic protein receptor, type II (serine/threonine kinase),
  • T-ALK,
  • BMR2,
  • primary pulmonary hypertension 1,
  • Z48923,
  • PPH1,
  • bone morphogenetic protein receptor type II,
  • uc002uzf.5,
  • POVD1,
  • BRK-3,
  • PPH1,
  • BMPR2,
  • BRK-3,
  • OTTHUMG00000133617,
  • BMPR3,
  • BMPR-II,
  • T-ALK,
  • BMPR-II,
  • HGNC:1078,
  • NM_001204
  • identifiers:
  • 659,
  • ENSG00000204217,
  • BMPR2

Genome feature

Region: gene ? Length: 191442  
Location: 2:202376310-202567751 Cyto location: 2q33.1-q33.2


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2 Diseases

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711 SN Ps

5 Cross References

20 Data Sets

16 Homologues

0 Located Features

90 Rna Seq Results