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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]
RNF213 (Ring Finger Protein 213) is a Protein Coding gene. Diseases associated with RNF213 include Moyamoya Disease 2 and Anaplastic Large Cell Lymphoma. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ligase activity and ATPase activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004842 | ubiquitin-protein transferase activity | IEA,TAS | 26766444 |
GO:0016887 | ATPase activity | IEA,IDA | 21799892 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005730 | nucleolus | IDA | -- |
GO:0005737 | cytoplasm | IDA | 21799892 |
GO:0005829 | cytosol | IDA,TAS | -- |
GO:0016020 | membrane | HDA | 19946888 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Class I MHC mediated antigen processing and presentation | ||
2 | Innate Immune System |
.61
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000209 | protein polyubiquitination | TAS | -- |
GO:0001525 | angiogenesis | IEA,IMP | 26126547 |
GO:0002040 | sprouting angiogenesis | IMP, IBA | 26766444 |
GO:0006511 | ubiquitin-dependent protein catabolic process | IMP, IBA | 26766444 |
GO:0016567 | protein ubiquitination | IEA,IDA | 21799892 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RNF213 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RNF213 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RNF213 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rnf213 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rnf213 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | RNF213 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RNF213 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RNF213 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rnf213 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | rnf213a 30 31 |
|
OneToMany | |
RNF213 (4 of 4) 31 |
|
OneToMany | |||
RNF213 (3 of 4) 31 |
|
OneToMany | |||
rnf213b 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
627493 | Conflicting Interpretations: Moyamoya disease 2; not provided | 80,317,251(+) | G/T | NONSENSE | |
637049 | Likely Pathogenic: Moyamoya disease 2 | 80,368,047(+) | G/T | MISSENSE_VARIANT | |
684683 | Likely Pathogenic: Midaortic syndrome | 80,343,311(+) | G/A | MISSENSE_VARIANT | |
708562 | Benign: not provided | 80,383,800(+) | A/G | MISSENSE_VARIANT | |
709298 | Benign: not provided | 80,373,027(+) | C/T | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
moyamoya disease 2 |
|
|
anaplastic large cell lymphoma |
|
|
moyamoya disease 1 |
|
|
inflammatory myofibroblastic tumor |
|
|
lymphoma |
|
|