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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

Corresponding disease	MYMY2 Moyamoya disease, susceptibility 2
Location	17q25.3      Physical location : 78.234.666 - 78.370.085
Synonym name	ALK lymphoma oligomerization partner on chromosome 17
	chromosome 17 open reading frame 27
	mysterin
Synonym symbol(s)	KIAA1554, C17orf27, ALO17, MYMY2, NET57, mystr, MGC9929, FLJ13051, KIAA1618, MGC46622, mysterin,DKFZp762N1115

DNA

TYPE	functioning gene
STRUCTURE	135.42 kb     69 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_020914 69 - 18702 NP_065965 596.5 5256 - 2002 12112524 NM_020954 17 - 5330 - 1063 - 2002 12112524

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine small intestine         stomach       predominantly Lymphoid/Immune spleen       highly Homo sapiens Reproductive female system uterus     highly   female system breast mammary gland     Respiratory respiratory tract larynx       Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte Homo sapiens

cell lineage
cell lines
fluid/secretion	blood

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a Walker motif and a RING finger domain
	an ATP binding domain
	an AAA ATPase domain
	C2-C2 zinc finger domain
	a coiled coil-4 domain
	enzymatically active P-loop ATPase and ubiquitin ligase domains

HOMOLOGY

Homologene

FAMILY

zinc finger family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus
text	cytosolic expression
	constitutive expression of the RNF213 gene was very low in adult and embryonic brain tissue

basic FUNCTION	having ATPase and ubiquitin ligase activities (
	functions as ubiquitin ligase and AAA+ ATPase, which possibly contributes to vascular development through mechanical processes in the cell
	is involved in vascular remodeling processes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Zn2+

protein

PTPN1 controls non-mitochondrial oxygen consumption by regulating RNF213 to promote tumour survival during hypoxia

cell & other

REGULATION

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)