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FLASH GENE
Symbol BMP2 contributors: mct - updated : 18-01-2016
HGNC name bone morphogenetic protein 2
HGNC id 1069
ASSOCIATED DISORDERS
corresponding disease(s) WPW2 , DEL20P12 , SSSCH
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral        
in prostate and breast cancers and in the microadenomas of familial adenomatous polyposis
tumoral     --other  
aberrant expression in approximately 98p100 of lung carcinomas
constitutional     --over  
in synovial chondromatosis
constitutional   amplification    
duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2
Susceptibility to nonsyndromic sagittal craniosynostosis
Variant & Polymorphism SNP
  • modulating hemochromatosis penetrance
  • a 120-kb region downstream of BMP2 flanked by rs1884302, susceptibility loci for nonsyndromic sagittal craniosynostosis
  • Candidate gene to cleft palate and additional anomalies in del20p12.3
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    osteoarticularboneothers
    BMP antagonists such as noggin might be useful therapeutic tools for preventing chondrogenic metaplasia occurred in synovial chondromatosis
    cardiovascularaquired 
    BMP2-MEF2A pathway can offer new opportunities for the treatment of heart failure
    ANIMAL & CELL MODELS
  • short stature and skeletal anomalies in a heterozygous Bmp2-knockout mouse model
  • Bmp2-null mice show embryonic lethality with failure of amnion and chorion formation and abnormal cardiac development