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FLASH GENE

Symbol

FBN2

contributors: mct - updated : 09-01-2018

HGNC name	fibrillin 2
HGNC id	3604

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CCA

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       loss of function by promoter region methylation in primary renal cell carcinoma tumoral     --low   silencing by methylation in esophageal squamous cell carcinoma constitutional     --over   in bicuspid aortic valve (BAV) in the ascending aorta, irrespective of dilatation, whereas MMP expression does not change significantly

Susceptibility

to macular degeneratio

Variant & Polymorphism other	rare and common variants in FBN2 are associated with macular degeneration

Candidate gene
Marker	FBN2, TNSC, MATN2, and MATN4 may be markers of the pathogenesis of either granular or lattice type I corneal dystrophy
Therapy target

ANIMAL & CELL MODELS

Fbn2 null mice are born with reduced muscle mass, abnormal muscle histology, and signs of activated BMP signaling in skeletal muscle