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FLASH GENE

Symbol

EFEMP2

contributors: npt/shn - updated : 25-04-2017

HGNC name	EGF-containing fibulin-like extracellular matrix protein 2
HGNC id	3219

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CLAR1B

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --other   dysregulated expression of associated with colon carcinoma

Susceptibility

recognized as an autoantigen mainly in osteoarthritis

Variant & Polymorphism

Candidate gene	retinal dystrophy
Marker
Therapy target

ANIMAL & CELL MODELS

	Fbln4-deficient mice have tortuous aortae and emphysematous lungs, with severe disruption in elastic tissues (Horiguchi 2009)
	knocked down of fibulin-4 in human foreskin fibroblasts using siRNA leads to impairment of elastic-fibre formation (Chen et al, 2009)
	Knocking down or knocking out fibulin-4 in mice lead to a decrease in tropoelastin expression in the aorta (Chen et al, 2009)