Gene
BMPR1B
bone morphogenetic protein receptor type 1B
- HGNC 1077↗(opens in a new tab)
- Ensembl gene ENSG00000138696↗(opens in a new tab)
- NCBI Gene 658↗(opens in a new tab)
Summary
- Cytogenetic location
- 4q22.3
- Coordinates
- Chromosome 4: 94,757,955–95,158,448 (GRCh38)
- Exons
- 13 exons across 400.5 kb
- Protein
- 502 amino acids
- Also known as
- ALK6, CDw293
- MANE Select transcript
- ENST00000515059.6NM_001203.3
- 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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Get my Genome TestCurated reports relevant to this gene
No Genome Test report reads BMPR1B yet. The test sequences your whole genome, so your data includes it all the same.
How BMPR1B 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 5.6 kb of the gene's 400.5 kb; 1,509 of those bases code for the protein.
How a genome test reads BMPR1B
6
positions in BMPR1B 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 400.5 kb of BMPR1B, introns included, not only the 5.6 kb of exons.
Traits linked to BMPR1B
The Human Phenotype Ontology lists these as features of the rare conditions BMPR1B can cause. Each trait's page lists the other genes linked to it.
Abnormality of limbs
- Absent calf bone
- Absent innermost bone of index finger
- Absent/small middle index finger bone
- Broad foot
- Club foot on both sides
- Curvature of little finger
- Fused ankle bones
- Fused wrist bones
Show 58 more traits
- Limb undergrowth
- Radial deviation of finger
- Short finger bones
- Short fingers or toes
- Short middle bone of the little finger
- Short neck of thighbone
- Short outermost bone of the index finger
- Short outermost bone of the thumb
- Short proximal phalanx of finger
- Short proximal phalanx of thumb
- Short toe
- Shortened 1st long bone of hand
- Underdeveloped inner large forearm bone
- Wide innermost wide portion of shankbone bone
- Abnormal morphology of the radius
- Abnormal morphology of ulna
- Abnormality of the shankbone
- Abnormality of the thumb
- Absent middle toe bones
- Absent/small 1st long bone of hand
- Absent/small calf bone
- Absent/small long bones of hand
- Bilateral single transverse palmar creases
- Bowing of the long bones
- Finger bends toward pinky
- Fusion of wrist bones
- Pseudoepiphysis of the 2nd finger
- Short big toe
- Short foot
- Short index fingers and second toes
- Short middle bone of finger
- Short thumb
- Smaller or shorter than typical limbs
- Type C brachydactyly
- Absent/small thumb
- Complete duplication of outermost bone of the thumb
- Extra little finger
- Short calf bone
- Short long bone of foot
- Short shinbone
- Speckled calcifications in the end part of the outermost thumb bone
- Club feet
- Fused finger bones
- Fused outermost bones of hand
- Metatarsus valgus
- Shortened 2nd long bone of hand
- Wide long bones of hand
- Absent/small middle bone of pinky finger
- Broad big toe
- Bunion
- Medially deviated second toe
- Radial deviation of the 2nd finger
- Short finger
- Short index finger
- Triangular shaped middle bone of index finger
- Triangular shaped middle little finger bone
- Ulnar deviation of the 2nd finger
- Webbed 2nd and 3rd toes
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.). BMPR1B gene: bone morphogenetic protein receptor type 1B. Retrieved 17 October 2026, from https://dantelabs.com/genes/bmpr1b
Dante Labs. BMPR1B gene: bone morphogenetic protein receptor type 1B [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/bmpr1b
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