Gene
BMP2
bone morphogenetic protein 2
- HGNC 1069(opens in a new tab)
- Ensembl gene ENSG00000125845(opens in a new tab)
- NCBI Gene 650(opens in a new tab)
Summary
- Cytogenetic location
- 20p12.3
- Coordinates
- Chromosome 20: 6,767,686–6,780,246 (GRCh38)
- Exons
- 3 exons across 12.6 kb
- Protein
- 396 amino acids
- Previous symbols
- BMP2A
- MANE Select transcript
- ENST00000378827.5NM_001200.4
- 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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No Genome Test report reads BMP2 yet. The test sequences your whole genome, so your data includes it all the same.
How BMP2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 3.5 kb of the gene's 12.6 kb; 1,191 of those bases code for the protein.
How a genome test reads BMP2
15
positions in BMP2 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 12.6 kb of BMP2, introns included, not only the 3.5 kb of exons.
Traits linked to BMP2
The Human Phenotype Ontology lists these as features of the rare conditions BMP2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of limbs
- Short index fingers and second toes
- Curvature of little finger
- Gap between 1st and 2nd toes
- Short foot
- Absent/small middle index finger bone
- Broad bone of big toe
- Broad thumb
- Short middle bone of finger
Show 15 more traits
- Short middle bone of the little finger
- Shortened 2nd long bone of hand
- Absent/small middle bone of pinky finger
- Broad big toe
- Bunion
- Medially deviated second toe
- Radial deviation of the 2nd finger
- Short big toe
- Short index finger
- Short toe
- Shortened 5th long bone of hand
- Triangular shaped middle bone of index finger
- Triangular shaped middle little finger bone
- Ulnar deviation of the 2nd finger
- Webbed 2nd and 3rd toes
Abnormality of the musculoskeletal system
- 11 pairs of ribs
- Displacement of one backbone compared to another
- Low muscle tone
- Osteopenia
- Pigeon chest
- Decreased muscle tone in infant
- Delayed bone maturation
- Disease of the joints
Show 3 more traits
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.
- 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.). BMP2 gene: bone morphogenetic protein 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/bmp2
Dante Labs. BMP2 gene: bone morphogenetic protein 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/bmp2
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