BMP4 gene

bone morphogenetic protein 4

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates heart development and adipogenesis. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. The encoded protein may also be involved in the pathology of multiple cardiovascular diseases and human cancers. [provided by RefSeq, Jul 2016]

From UniProt:

Induces cartilage and bone formation. Also acts in mesoderm induction, tooth development, limb formation and fracture repair. Acts in concert with PTHLH/PTHRP to stimulate ductal outgrowth during embryonic mammary development and to inhibit hair follicle induction (By similarity).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Orofacial cleft 11
  • Microphthalmia with brain and digit anomalies

From UniProt:

Microphthalmia, syndromic, 6 (MCOPS6): A disease characterized by microphthalmia/anophthalmia associated with facial, genital, skeletal, neurologic and endocrine anomalies. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. [MIM:607932]

Non-syndromic orofacial cleft 11 (OFC11): A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. [MIM:600625]

Cytogenetic Location: 14q22.2, which is the long (q) arm of chromosome 14 at position 22.2

Molecular Location: base pairs 53,949,736 to 53,956,891 on chromosome 14 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 14q22.2, which is the long (q) arm of chromosome 14 at position 22.2
  • BMP2B
  • BMP2B1
  • MCOPS6
  • OFC11
  • ZYME