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MGP000322

UniProt Annotations

Entry Information
Gene Namebone morphogenetic protein 4
Protein EntryBMP4_HUMAN
UniProt IDP12644
SpeciesHuman
Comments
Comment typeDescription
DiseaseMicrophthalmia, syndromic, 6 (MCOPS6) [MIM:607932]: 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. {ECO:0000269|PubMed:18252212}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseNon-syndromic orofacial cleft 11 (OFC11) [MIM:600625]: 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. {ECO:0000269|PubMed:19249007}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionInduces cartilage and bone formation. Also act 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). {ECO:0000250}.
InteractionP36894:BMPR1A; NbExp=2; IntAct=EBI-1998134, EBI-1029237;
SimilarityBelongs to the TGF-beta family. {ECO:0000305}.
Subcellular LocationSecreted, extracellular space, extracellular matrix.
SubunitHomodimer; disulfide-linked (By similarity). Interacts with GREM2. Part of a complex consisting of TWSG1 and CHRD. Interacts with the serine proteases, HTRA1 and HTRA3; the interaction with either inhibits BMP4-mediated signaling. The HTRA protease activity is required for this inhibition (By similarity). Interacts with SOSTDC1. {ECO:0000250, ECO:0000269|PubMed:15020244}.
Tissue SpecificityExpressed in the lung and lower levels seen in the kidney. Present also in normal and neoplastic prostate tissues, and prostate cancer cell lines.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/BMP4ID811ch14q22.html";
Web ResourceName=Wikipedia; Note=Bone morphogenetic protein 4 entry; URL="http://en.wikipedia.org/wiki/Bone_morphogenetic_protein_4";
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