RNF213 Chromosome 17
Ring finger protein 213
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What This Gene Does
This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. The protein also contains an AAA domain, which is associated with ATPase activity. This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
Ring finger proteins
Locus Type
gene with protein product
Location
17q25.3
Ensembl
ENSG00000173821
Associated Conditions (14)
Moyamoya disease 2
Inborn genetic diseases
RNF213-related disorder
Gastric cancer
See cases
Moyamoya disease 1
Atypical coarctation of aorta
Stroke disorder
Seizure
Inguinal hernia
Hemangioma
Nephrocalcinosis
Moyamoya angiopathy
Moyamoya disease
Key Variants
RS112735431
Conflicting classifications of pathogenicity
Moyamoya disease 2, Inborn genetic diseases, Moyamoya disease 2
Health Risk
RS116608867
Conflicting classifications of pathogenicity
RNF213-related disorder, RNF213-related disorder
Health Risk
RS138044665
Conflicting classifications of pathogenicity
RNF213-related disorder, RNF213-related disorder
Health Risk
RS139265462
Conflicting classifications of pathogenicity
Moyamoya disease 2, Moyamoya disease 2
Health Risk
RS139428059
Conflicting classifications of pathogenicity
Health Risk
RS140300282
Conflicting classifications of pathogenicity
Health Risk
RS141301945
Conflicting classifications of pathogenicity
Health Risk
RS143163385
Conflicting classifications of pathogenicity
Health Risk
RS143828863
Conflicting classifications of pathogenicity
Moyamoya disease 2, Gastric cancer, Moyamoya disease 2
Health Risk
RS143904490
Conflicting classifications of pathogenicity
RNF213-related disorder, RNF213-related disorder
Health Risk
RS144074554
Conflicting classifications of pathogenicity
Health Risk
RS146990608
Conflicting classifications of pathogenicity
Moyamoya disease 2, Moyamoya disease 2
Health Risk
All Variants (56)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112735431 | Health Risk | Conflicting classifications of pathogenicity | Moyamoya disease 2, Inborn genetic diseases, Moyamoya disease 2 |
| RS116608867 | Health Risk | Conflicting classifications of pathogenicity | RNF213-related disorder, RNF213-related disorder |
| RS138044665 | Health Risk | Conflicting classifications of pathogenicity | RNF213-related disorder, RNF213-related disorder |
| RS139265462 | Health Risk | Conflicting classifications of pathogenicity | Moyamoya disease 2, Moyamoya disease 2 |
| RS139428059 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS140300282 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141301945 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143163385 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143828863 | Health Risk | Conflicting classifications of pathogenicity | Moyamoya disease 2, Gastric cancer, Moyamoya disease 2 |
| RS143904490 | Health Risk | Conflicting classifications of pathogenicity | RNF213-related disorder, RNF213-related disorder |
| RS144074554 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146990608 | Health Risk | Conflicting classifications of pathogenicity | Moyamoya disease 2, Moyamoya disease 2 |
| RS148776624 | Health Risk | Conflicting classifications of pathogenicity | Moyamoya disease 2, See cases, Moyamoya disease 2 |
| RS150095282 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1555676035 | Health Risk | Conflicting classifications of pathogenicity | Moyamoya disease 2, Moyamoya disease 1, Moyamoya disease 2 |
| RS189765261 | Health Risk | Conflicting classifications of pathogenicity | Moyamoya disease 2, Moyamoya disease 2 |
| RS200898632 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201141064 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201559472 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201733659 | Health Risk | Conflicting classifications of pathogenicity | Moyamoya disease 2, RNF213-related disorder, Moyamoya disease 2 |
| RS202096577 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202143169 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2079442813 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2080231811 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368221664 | Health Risk | Conflicting classifications of pathogenicity | RNF213-related disorder, RNF213-related disorder |
| RS371441113 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375097553 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS527844265 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS534665632 | Health Risk | Conflicting classifications of pathogenicity | Moyamoya disease 2, Moyamoya disease 2 |
| RS546643996 | Health Risk | Conflicting classifications of pathogenicity | Moyamoya disease 2, Moyamoya disease 2 |
| RS547158013 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS565004625 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS74792814 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS768740459 | Health Risk | Conflicting classifications of pathogenicity | Atypical coarctation of aorta, Moyamoya disease 2, Atypical coarctation of aorta |
| RS776910365 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS777997220 | Health Risk | Conflicting classifications of pathogenicity | Moyamoya disease 2, Moyamoya disease 2 |
| RS780158690 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1178682633 | Health Risk | Likely pathogenic | Stroke disorder, Seizure, Inguinal hernia |
| RS1555675538 | Health Risk | Likely pathogenic | Moyamoya disease 2, Moyamoya angiopathy, Moyamoya disease 2 |
| RS1555676146 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1568149971 | Health Risk | Likely pathogenic | Moyamoya disease 2, Moyamoya disease 2 |
| RS1599150380 | Health Risk | Likely pathogenic | Moyamoya disease 2, Moyamoya disease 2 |
| RS2044626265 | Health Risk | Likely pathogenic | — |
| RS2079443609 | Health Risk | Likely pathogenic | Moyamoya angiopathy, Moyamoya angiopathy |
| RS2511483095 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2511483243 | Health Risk | Likely pathogenic | Moyamoya disease 2, Moyamoya disease 2 |
| RS2511542522 | Health Risk | Likely pathogenic | Moyamoya disease 2, Moyamoya disease 2 |
| RS2511572182 | Health Risk | Likely pathogenic | Moyamoya disease 2, Moyamoya disease 2 |
| RS797045187 | Health Risk | Likely pathogenic | Moyamoya disease 2, Moyamoya angiopathy, Moyamoya disease 2 |
| RS2079443410 | Health Risk | Pathogenic | Moyamoya disease 2, Moyamoya disease 2 |