Gene
BMPR2
bone morphogenetic protein receptor type 2
- HGNC 1078(opens in a new tab)
- Ensembl gene ENSG00000204217(opens in a new tab)
- NCBI Gene 659(opens in a new tab)
Summary
- Cytogenetic location
- 2q33.1-q33.2
- Coordinates
- Chromosome 2: 202,376,327–202,567,749 (GRCh38)
- Exons
- 13 exons across 191.4 kb
- Protein
- 1,038 amino acids
- Also known as
- BRK-3, T-ALK, BMPR3, BMPR-II
- Previous symbols
- PPH1
- MANE Select transcript
- ENST00000374580.10NM_001204.7
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Heritable Pulmonary Arterial Hypertension (HPAH)
- Pulmonary Veno-Occlusive Disease
Narrowing or blockage of the small veins in the lungs that leads to pulmonary hypertension, with inherited forms caused by changes in BMPR2 or EIF2AK4.
- 1 GenCC submitter rates it definitive or strong
- Heritable Pulmonary Arterial Hypertension
Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.
- 3 GenCC submitters rate it definitive or strong
How BMPR2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 12.1 kb of the gene's 191.4 kb; 3,117 of those bases code for the protein.
How a genome test reads BMPR2
72
positions in BMPR2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 191.4 kb of BMPR2, introns included, not only the 12.1 kb of exons.
Traits linked to BMPR2
The Human Phenotype Ontology lists these as features of the rare conditions BMPR2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the cardiovascular system
- Abnormally loud pulmonic component of the second heart sound
- Increased blood pressure in blood vessels of lungs
- Elevated right atrial pressure
- Increased pulmonary vascular resistance
- Right ventricular failure
- Right ventricular hypertrophy
- Pulmonary arterial medial hypertrophy
- Pulmonary artery vasoconstriction
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). BMPR2 gene: bone morphogenetic protein receptor type 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/bmpr2
Dante Labs. BMPR2 gene: bone morphogenetic protein receptor type 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/bmpr2
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