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Aliases for RNF213 Gene

Aliases for RNF213 Gene

  • Ring Finger Protein 213 2 3
  • KIAA1618 2 3 4
  • ALK Lymphoma Oligomerization Partner On Chromosome 17 3 4
  • RING Finger Protein 213 4 5
  • Mysterin 3 4
  • C17orf27 3 4
  • ALO17 3 4
  • MYSTR 3 4
  • Chromosome 17 Open Reading Frame 27 2
  • Moyamoya Disease 2 2
  • EC 3.6.4.- 4
  • EC 6.3.2.- 4
  • KIAA1554 4
  • NET57 3
  • MYMY2 3

External Ids for RNF213 Gene

Previous HGNC Symbols for RNF213 Gene

  • C17orf27
  • KIAA1618
  • MYMY2

Previous GeneCards Identifiers for RNF213 Gene

  • GC17P075929
  • GC17P078313
  • GC17P073677
  • GC17P078235

Summaries for RNF213 Gene

Entrez Gene Summary for RNF213 Gene

  • 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]

GeneCards Summary for RNF213 Gene

RNF213 (Ring Finger Protein 213) is a Protein Coding gene. Diseases associated with RNF213 include Moyamoya Disease 2 and Moyamoya Disease. Among its related pathways are Antigen processing- Ubiquitination and Proteasome degradation and Immune System. GO annotations related to this gene include ligase activity and ATPase activity.

UniProtKB/Swiss-Prot for RNF213 Gene

  • E3 ubiquitin-protein ligase involved in angiogenesis (PubMed:21799892, PubMed:26278786, PubMed:26766444, PubMed:26126547). Involved in the non-canonical Wnt signaling pathway in vascular development: acts by mediating ubiquitination and degradation of FLNA and NFATC2 downstream of RSPO3, leading to inhibit the non-canonical Wnt signaling pathway and promoting vessel regression (PubMed:26766444). Also has ATPase activity (PubMed:24658080, PubMed:26126547).

Gene Wiki entry for RNF213 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNF213 Gene

Genomics for RNF213 Gene

Regulatory Elements for RNF213 Gene

Enhancers for RNF213 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RNF213 on UCSC Golden Path with GeneCards custom track

Promoters for RNF213 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RNF213 on UCSC Golden Path with GeneCards custom track

Genomic Location for RNF213 Gene

Chromosome:
17
Start:
80,260,840 bp from pter
End:
80,398,786 bp from pter
Size:
137,947 bases
Orientation:
Plus strand

Genomic View for RNF213 Gene

Genes around RNF213 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNF213 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNF213 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNF213 Gene

Proteins for RNF213 Gene

  • Protein details for RNF213 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q63HN8-RN213_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase RNF213
    Protein Accession:
    Q63HN8
    Secondary Accessions:
    • C9JCP4
    • D6RI12
    • F8WKS1
    • Q658P6
    • Q69YK7
    • Q6MZR1
    • Q8IWF4
    • Q8IZX1
    • Q8IZX2
    • Q8N406
    • Q8TEU0
    • Q9H6C9
    • Q9H6H9
    • Q9H6P3
    • Q9H8A9
    • Q9HCF4
    • Q9HCL8

    Protein attributes for RNF213 Gene

    Size:
    5207 amino acids
    Molecular mass:
    591407 Da
    Quaternary structure:
    • Homooligomer; probably forms homohexamers.
    SequenceCaution:
    • Sequence=AAH32220.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB13444.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=BAB14708.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15212.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15280.1; Type=Erroneous termination; Positions=4257; Note=Translated as Gln.; Evidence={ECO:0000305}; Sequence=BAB15330.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAH10615.1; Type=Frameshift; Positions=211, 213, 221, 266; Evidence={ECO:0000305}; Sequence=CAH56189.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for RNF213 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RNF213 Gene

Proteomics data for RNF213 Gene at MOPED

Post-translational modifications for RNF213 Gene

  • Autoubiquitinated.
  • Ubiquitination at Lys 412, Lys 605, Lys 1079, Lys 1223, Lys 1520, Lys 2136, Lys 2367, Lys 2447, Lys 2800, Lys 2893, Lys 2915, Lys 2990, Lys 3019, Lys 3255, Lys 3517, Lys 3876, Lys 3982, Lys 4005, Lys 4297, Lys 4312, Lys 4335, and Lys 4974
  • Modification sites at PhosphoSitePlus

Other Protein References for RNF213 Gene

No data available for DME Specific Peptides for RNF213 Gene

Domains & Families for RNF213 Gene

Gene Families for RNF213 Gene

Protein Domains for RNF213 Gene

Suggested Antigen Peptide Sequences for RNF213 Gene

Graphical View of Domain Structure for InterPro Entry

Q63HN8

UniProtKB/Swiss-Prot:

RN213_HUMAN :
  • The RING-type zinc finger domain is required for the ubiquitin-protein ligase activity.
  • Belongs to the AAA ATPase family.
  • Contains 1 RING-type zinc finger.
Domain:
  • The RING-type zinc finger domain is required for the ubiquitin-protein ligase activity.
Family:
  • Belongs to the AAA ATPase family.
Similarity:
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with RNF213: view

Function for RNF213 Gene

Molecular function for RNF213 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase involved in angiogenesis (PubMed:21799892, PubMed:26278786, PubMed:26766444, PubMed:26126547). Involved in the non-canonical Wnt signaling pathway in vascular development: acts by mediating ubiquitination and degradation of FLNA and NFATC2 downstream of RSPO3, leading to inhibit the non-canonical Wnt signaling pathway and promoting vessel regression (PubMed:26766444). Also has ATPase activity (PubMed:24658080, PubMed:26126547).
UniProtKB/Swiss-Prot Induction:
Down-regulated by let-7c miRNA, which binds to the 3-UTR transcript of RNF213 (PubMed:26070522). Induced by pro-inflammatory cytokines (PubMed:26278786).

Enzyme Numbers (IUBMB) for RNF213 Gene

Gene Ontology (GO) - Molecular Function for RNF213 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity TAS 26766444
GO:0005515 protein binding IPI 25416956
GO:0008270 zinc ion binding IEA --
GO:0016874 ligase activity IEA --
GO:0016887 ATPase activity IDA 21799892
genes like me logo Genes that share ontologies with RNF213: view
genes like me logo Genes that share phenotypes with RNF213: view

Human Phenotype Ontology for RNF213 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RNF213 Gene

MGI Knock Outs for RNF213:

Animal Model Products

CRISPR Products

No data available for Transcription Factor Targets and HOMER Transcription for RNF213 Gene

Localization for RNF213 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNF213 Gene

Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RNF213 Gene COMPARTMENTS Subcellular localization image for RNF213 gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for RNF213 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RNF213: view

Pathways & Interactions for RNF213 Gene

genes like me logo Genes that share pathways with RNF213: view

UniProtKB/Swiss-Prot Q63HN8-RN213_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for RNF213 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0001525 angiogenesis IMP 26126547
GO:0002040 sprouting angiogenesis IMP 26766444
GO:0051260 protein homooligomerization IDA 24658080
GO:0051865 protein autoubiquitination IDA 21799892
genes like me logo Genes that share ontologies with RNF213: view

No data available for SIGNOR curated interactions for RNF213 Gene

Drugs & Compounds for RNF213 Gene

No Compound Related Data Available

Transcripts for RNF213 Gene

mRNA/cDNA for RNF213 Gene

(10) REFSEQ mRNAs :
(21) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(20) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RNF213 Gene

Ring finger protein 213:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RNF213 Gene

No ASD Table

Relevant External Links for RNF213 Gene

GeneLoc Exon Structure for
RNF213
ECgene alternative splicing isoforms for
RNF213

Expression for RNF213 Gene

mRNA expression in normal human tissues for RNF213 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RNF213 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (16.0), Lymph node (7.0), and Cerebrospinal fluid (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RNF213 Gene



SOURCE GeneReport for Unigene cluster for RNF213 Gene Hs.195642

mRNA Expression by UniProt/SwissProt for RNF213 Gene

Q63HN8-RN213_HUMAN
Tissue specificity: Widely expressed (at protein level).
genes like me logo Genes that share expression patterns with RNF213: view

Protein tissue co-expression partners for RNF213 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for RNF213 Gene

Orthologs for RNF213 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RNF213 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RNF213 35
  • 77.69 (n)
  • 71.38 (a)
RNF213 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RNF213 35
  • 76.45 (n)
  • 70.44 (a)
RNF213 36
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rnf213 35
  • 73.27 (n)
  • 67.77 (a)
Rnf213 16
Rnf213 36
  • 64 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RNF213 35
  • 98.22 (n)
  • 97.14 (a)
RNF213 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rnf213 35
  • 73.02 (n)
  • 67.17 (a)
oppossum
(Monodelphis domestica)
Mammalia RNF213 36
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RNF213 36
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves RNF213 35
  • 60.96 (n)
  • 53.7 (a)
RNF213 36
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 60 (a)
OneToMany
-- 36
  • 64 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf213 35
  • 55.33 (n)
  • 48.16 (a)
zebrafish
(Danio rerio)
Actinopterygii rnf213a 35
  • 54.84 (n)
  • 47.68 (a)
RNF213 (3 of 4) 36
  • 47 (a)
OneToMany
RNF213 (4 of 4) 36
  • 47 (a)
OneToMany
rnf213a 36
  • 46 (a)
OneToMany
rnf213b 36
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 23 (a)
OneToOne
Species with no ortholog for RNF213:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RNF213 Gene

ENSEMBL:
Gene Tree for RNF213 (if available)
TreeFam:
Gene Tree for RNF213 (if available)

Paralogs for RNF213 Gene

No data available for Paralogs for RNF213 Gene

Variants for RNF213 Gene

Sequence variations from dbSNP and Humsavar for RNF213 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs138516230 - 80,345,997(+) GCCGA(A/C/T)AGGCT nc-transcript-variant, reference, synonymous-codon, missense
VAR_067021 -
VAR_067022 -
VAR_067023 -
VAR_067024 Moyamoya disease 2 (MYMY2)

Structural Variations from Database of Genomic Variants (DGV) for RNF213 Gene

Variant ID Type Subtype PubMed ID
nsv469591 CNV Loss 16826518
nsv833562 CNV Loss 17160897
dgv3298n71 CNV Loss 21882294
nsv457968 CNV Loss 19166990
nsv908982 CNV Loss 21882294
nsv908983 CNV Gain 21882294
nsv908984 CNV Gain 21882294
nsv908985 CNV Gain 21882294
esv2716370 CNV Deletion 23290073
esv2545815 CNV Insertion 19546169
esv7605 OTHER Inversion 19470904
nsv513486 CNV Insertion 21212237
nsv908986 CNV Gain 21882294
nsv2158 CNV Loss 18451855
esv2166847 CNV Deletion 18987734
esv2716371 CNV Deletion 23290073
esv29846 CNV Loss 19812545
esv2473168 CNV Deletion 19546169
dgv471e201 CNV Deletion 23290073
esv2716373 CNV Deletion 23290073
nsv821604 CNV Deletion 20802225
esv2716376 CNV Deletion 23290073
esv2716377 CNV Deletion 23290073
esv2311590 CNV Deletion 18987734
esv271360 CNV Insertion 20981092
dgv3299n71 CNV Loss 21882294

Variation tolerance for RNF213 Gene

Residual Variation Intolerance Score: 16.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.46; 94.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RNF213 Gene

Human Gene Mutation Database (HGMD)
RNF213

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNF213 Gene

Disorders for RNF213 Gene

MalaCards: The human disease database

(7) MalaCards diseases for RNF213 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
moyamoya disease 2
  • moyamoya disease 2, susceptibility to
moyamoya disease
  • moyamoya disease 3
anaplastic large cell lymphoma
  • alcl
cerebral arterial disease
  • cerebral arterial diseases
inflammatory myofibroblastic tumor
  • inflammatory fibrosarcoma
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RN213_HUMAN
  • Moyamoya disease 2 (MYMY2) [MIM:607151]: A progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a puff of smoke (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. {ECO:0000269 PubMed:21048783, ECO:0000269 PubMed:21799892, ECO:0000269 PubMed:23110205, ECO:0000269 PubMed:23994138, ECO:0000269 PubMed:25278557, ECO:0000269 PubMed:25956231, ECO:0000269 PubMed:26126547, ECO:0000269 PubMed:26198278}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Note=A chromosomal aberration involving RNF213 is associated with anaplastic large-cell lymphoma (ALCL). Translocation t(2;17)(p23;q25) with ALK. {ECO:0000269 PubMed:12112524}.

Relevant External Links for RNF213

Genetic Association Database (GAD)
RNF213
Human Genome Epidemiology (HuGE) Navigator
RNF213
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RNF213
genes like me logo Genes that share disorders with RNF213: view

No data available for Genatlas for RNF213 Gene

Publications for RNF213 Gene

  1. A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. (PMID: 21048783) Kamada F. … Kure S. (J. Hum. Genet. 2011) 2 3 4 48 67
  2. Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. (PMID: 21799892) Liu W. … Koizumi A. (PLoS ONE 2011) 2 3
  3. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T. … Ohara O. (DNA Res. 2000) 2 3
  4. Endothelial RSPO3 controls vascular stability and pruning through non-canonical WNT/Ca(2+)/NFAT signaling. (PMID: 26766444) Scholz B. … Augustin H.G. (Dev. Cell 2016) 3
  5. Analysis of t(9;17)(q33.2;q25.3) chromosomal breakpoint regions and genetic association reveals novel candidate genes for bipolar disorder. (PMID: 25053281) Rajkumar A.P. … rglum A.D. (Bipolar Disord 2015) 3

Products for RNF213 Gene

Sources for RNF213 Gene

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