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FLASH GENE

Symbol

BMP4

contributors: shn/mct - updated : 26-05-2017

HGNC name	bone morphogenetic protein 4
HGNC id	1071

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

MCOPS6 , DEL14Q22

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in patients with fibrodysplasia ossificans progressive (FOP) constitutional     --over   in a syndrome of axial skeletal malformations and heterotopic ossification of the neck and back (ASMHO), analog to the short ear mouse constitutional germinal mutation       in ASD, VSD constitutional     --over   in synovial chondromatosis constitutional     --over   in RPE cells in both the early and late form of dry Age-related Macular Degeneration constitutional       loss of function of SIX2 and BMP4, could affect kidney development at multiple stages, leading to the congenital anomalies observed in patients with renal hypodysplasia tumoral germinal mutation       in colorectal cancer (CRC) constitutional   deletion     detected in a patient affected with SHORT syndrome constitutional     --over   may be associated with Sertoli cell-only syndrome and maturation arrest in spermatogonia or spermatocytes constitutional     --over   aberrant BMP4-mediated signaling in cranial neural crest (CNC) cells leads to mis-patterned facial skeleton and congenital bony syngnathia

Susceptibility

to hypospadias to microform and subepithelial orbicularis oris muscle (OOM) defects to congenital anomalies of the kidney and urinary tract

Variant & Polymorphism SNP , other	polymorphism increasing the risk of hypospadias
	SNP modulating hemochromatosis penetrance
	amino acid variations in BMP4 are associated with microform and subepithelial OOM defects
	polymorphisms of the BMP4 gene have a higher risk to develop CAKUT, especially the malformations related to nephrogenesis

Candidate gene
Marker
Therapy target	non-cytotoxic therapeutic effector which may be used to prevent growth and recurrence of glioblastomas
	System Type Disorder Pubmed osteoarticular bone   BMP antagonists such as noggin might be useful therapeutic tools for preventing chondrogenic metaplasia occurred in synovial chondromatosis cancer lung   responsive molecular target for cancer chemotherapy in lung carcinoma neurosensorial     may represent a novel therapeutic target to inhibit the progressive effects of oxidative stress and senescence in dry age-related macular degeneration diabete type 2   preferential inhibition of the BMP4 signaling pathway may provide a novel therapeutic approach to diabetic nephropathy without undesirable adverse effects cancer     BMP4 may become an antitumor agent and open a new field of antiangiogenic therapy

ANIMAL & CELL MODELS

	early lethality of Bmp4 null mouse embryos
	development of progressive postnatal heterotopic endochondral ossification has been observed in mice overexpressing BMP4