BMPR2
bone morphogenetic protein receptor type 2
Tier: Cilia-Associated Genes
- Ensembl:
- ENSG00000204217
- UniProt:
- Q13873
- OMIM:
- 600799
- Synonyms:
- BMPR-II, BMPR3, BRK-3, PPH1, T-ALK
Cilia effects upon perturbation of BMPR2
- Cilia number / % ciliated:
- Decreased cilia number
- Loss-of-function effect:
- Longer cilia
Ciliogenesis screen results (5 screens)
- Kim2016: Not Reported
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.70) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
- Kim et al. 2010 (siRNA) [siRNA]: Shorter Cilia (Area per Cilia z=-2.14) PMID:20393562
Phenotypes
- Human ciliopathy phenotype:
- Pulmonary arterial hypertension associated with congenital heart disease
Subcellular localization
lysosomes
References: PMID:39684361
Functional category
- Ciliary assembly/disassembly
- Neurogenesis & migration
- Cell migration & adhesion
- Signaling (Hedgehog, GPCRs, ion channels)
- Cardiac & muscle development
- Axon guidance & growth
- ECM & connective tissue
- Transcription regulation
Function
BMP signaling component, including upregulated gene Bmpr2 , consistently responded to strain, while Cox2 and Ift88 showed differential regulation depending on strain intensity. BMPR2 knockdown cells had significantly fewer cilia formation than the control cells, BMPR2 knockdown cells had longer cilia when cilia were ever formed (https://doi.org/10.1002/advs.201903140).