BMPR2
Sign in to saveAlso known as BMPR-II, BMPR3, BMR2, BRK-3, POVD1, PPH1, T-ALK, bone morphogenetic protein receptor type 2
gene umano
Gene data
BMPR2- Name
- bone morphogenetic protein receptor type 2
- Type
- protein-coding
- Position
- 202,375,835–202,567,751 (+)
- Aliases
- BMPR-II, BMPR3, BMR2, BRK-3, POVD1, PPH1, T-ALK
- Ensembl
- ENSG00000204217
- RefSeq RNA
- NM_001204.7, NM_001445553.1, NM_001445554.1, NM_001445555.1, NM_001445556.1
- RefSeq protein
- NP_001195.2, NP_001432482.1, NP_001432483.1, NP_001432484.1, NP_001432485.1
This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are 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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
bone morphogenetic protein receptor type 2
- Symbol
- BMPR2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 2:202,375,835-202,567,751
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 929
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/659
- genomic end
- 203432474
- genomic start
- 202376327
- chromosome
- human chromosome 2
- cytogenetic location
- 2q33.1-q33.2
- Commons category
- BMPR2
via Wikidata · CC0
Available in 6 languages
via Wikidata sitelinks · CC0