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FLASH GENE

Symbol

RNF213

contributors: mct - updated : 02-12-2016

HGNC name	ring finger protein 213
HGNC id	14539

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

MYMY2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       used to ALK in an ALCL (ALK-positive anaplastic large-cell lymphoma) case with a t(2;17)(p23;q25) constitutional     --over   in the ischemic brain constitutional       loss of function improved glucose tolerance by protecting islet beta cells

Susceptibility

to Moyamoya disease (see MYMY4) to Intracranial aneurysms (IAs) to intracranial major artery stenosis/occlusion (ICASO)

Variant & Polymorphism other	R4810K polymorphism increases susceptibility to Moyamoya disease, inducing phenotypes associated with mitotic abnormalities
	SNP rs6565666 appeared to be significantly associated with IA subjects
	RNF213 c.14576G>A is a susceptibility gene for intracranial major artery stenosis/occlusion (ICASO)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	knockdown of Rnf213 in zebrafish caused irregular wall formation in trunk arteries and abnormal sprouting vessels
	increased vascular expression of Mmp9 and subsequent vascular wall thinning in Rnf213-/- mice could reflect the early characteristic of MMD (Moyamoya disease)