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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 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. [provided by RefSeq, May 2020]
  • synonyms:
  • T-ALK,
  • POVD1,
  • HGNC:1078,
  • primary pulmonary hypertension 1,
  • PPH1,
  • BMPR-II,
  • NM_001204,
  • Z48923,
  • uc002uzf.5,
  • BMPR2,
  • BMPR-II,
  • BRK-3,
  • BRK-3,
  • BMPR3,
  • BMPR3,
  • bone morphogenetic protein receptor, type II (serine/threonine kinase),
  • bone morphogenetic protein receptor type II,
  • OTTHUMG00000133617,
  • BMR2,
  • T-ALK,
  • PPH1
  • identifiers:
  • 659,
  • ENSG00000204217,
  • BMPR2

Genome feature

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


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Disease

2 Diseases

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3740 SNPs

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results