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FLASH GENE

Symbol

CAV2

contributors: mct/npt/shn - updated : 22-09-2011

HGNC name	caveolin 2
HGNC id	1528

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   amplification     with MET oncogene in gastric cancer tumoral     --over   in cell lines and in inflammatory breast cancer (Van den Eynden 2006)

Susceptibility

to primary open-angle glaucoma to type 2 diabetes subjects from Iceland mapped the first common genetic risk factor for POAG to a small region of the genome on chromosome 7q31 that contains the caveolin genes CAV2 (

Variant & Polymorphism SNP	rs4236601[A], associated with primary open-angle glaucoma
	rs2270188 interacts with dietary fat to affect risk of type 2 diabetes

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS