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FLASH GENE

Symbol

TGFBR2

contributors: mct/npt - updated : 28-02-2016

HGNC name	transforming growth factor, beta receptor II (70/80kDa)
HGNC id	11773

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

MFS2 , LDS2B , LDS1B

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       protein chimeric major target of the EWSR1/FLI1 chimeric oncoprotein tumoral       loss of function in renal clear cell carcinomas with poor prognosis (renal clear cell carcinoma with metasatic potential)and inpancreatic, biliary and thyroid carcinoma

Susceptibility

to abdominal aortic aneurysm (Baas 2009)

Variant & Polymorphism SNP	SNP rs1036095 associated to abdominal aortic aneurysm (AAA)(Baas 2010)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS