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Gene

BMP4

bone morphogenetic protein 4

Summary

Cytogenetic location
14q22.2
Coordinates
Chromosome 14: 53,949,736–53,956,825 (GRCh38)
Exons
4 exons across 7.1 kb
Protein
408 amino acids
Inheritance
Autosomal dominant
Previous symbols
BMP2B
MANE Select transcript
ENST00000245451.9NM_001202.6
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Hereditary Orofacial Clefting

    • Orofacial Cleft 11 (BMP4-related)Autosomal dominant

      Cleft lip and/or palate caused by variants in the BMP4 gene.

      • 1 GenCC submitter rates it definitive or strong

  • Microphthalmia, Anophthalmia & Coloboma

    • Syndromic Microphthalmia

      Microphthalmia occurring with features outside the eye, caused by changes in genes such as SOX2, OTX2, BCOR, STRA6 and BMP4.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      A genetic diagnosis guides checks for associated features, such as pituitary hormone problems with SOX2 or OTX2, and informs recurrence risk.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How BMP4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 14, with a bracket where BMP4 sits. BMP4 and 2 genes near it on chromosome 14, from 53,453,281 to 54,453,280.Chromosome 1414q22.2p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3353.6 Mb53.8 Mb54 Mb54.2 Mb54.4 MbBMP4: 53,949,736–53,956,825, reverse strandBMP4CDKN3: 54,396,849–54,420,221, forward strandCDKN3CNIH1: 54,411,952–54,441,467, reverse strandCNIH1Diagram of BMP4: 4 exons on the reverse strand of chromosome 14Exon 4: 4 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 4: 53,949,736–53,950,888, 1,153 basesExon 3: 53,951,853–53,952,229, 377 basesExon 2: 53,953,276–53,953,400, 125 basesExon 1: 53,956,550–53,956,825, 276 bases43215′3′

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 1.9 kb of the gene's 7.1 kb; 1,227 of those bases code for the protein.

How a genome test reads BMP4

8

positions in BMP4 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 7.1 kb of BMP4, introns included, not only the 1.9 kb of exons.

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

APA

Dante Labs. (n.d.). BMP4 gene: bone morphogenetic protein 4. Retrieved 16 October 2026, from https://dantelabs.com/genes/bmp4

Vancouver

Dante Labs. BMP4 gene: bone morphogenetic protein 4 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/bmp4

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