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 in... See more...

Aliases for RNF213 Gene

Aliases for RNF213 Gene

  • Ring Finger Protein 213 2 3 5
  • ALK Lymphoma Oligomerization Partner On Chromosome 17 2 3 4
  • Mysterin 2 3 4
  • KIAA1618 2 3 4
  • ALO17 2 3 4
  • RING-Type E3 Ubiquitin Transferase RNF213 3 4
  • E3 Ubiquitin-Protein Ligase RNF213 3 4
  • C17orf27 3 4
  • KIAA1554 2 4
  • MYSTR 3 4
  • NET57 2 3
  • Chromosome 17 Open Reading Frame 27 2
  • RING Finger Protein 213 4
  • Moyamoya Disease 2 2
  • EC 2.3.2.27 4
  • EC 3.6.4.- 4
  • RNF213 5
  • 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 1. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. Gene Ontology (GO) annotations related to this gene include ligase activity and ATPase activity.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RNF213 Gene

Genomics for RNF213 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RNF213 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J080252 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 258.4 -1.1 -1121 14.2 BCLAF1 SP1 ZNF207 ZNF600 MYC NCOR1 IKZF1 SSRP1 JUND ZNF592 RNF213 piR-38716-064 lnc-SGSH-3 EIF4A3 CEP131 TEPSIN ENSG00000262580 CARD14 ENSG00000260005 RPL12P37
GH17J080287 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 256.7 +26.9 26863 5 POLR2A CEBPB MYNN SPI1 STAT5A ZBTB33 IKZF1 CEBPG HDAC1 ZSCAN4 RNF213 EIF4A3 RNF213-AS1 HSALNG0119185 piR-33614-122 ENDOV
GH17J080277 Enhancer 0.9 Ensembl ENCODE dbSUPER 20.3 +17.6 17581 2 ZIC2 NR2F1 POLR2A EGR2 ZFX RBFOX2 NR2F2 EP300 ZFHX2 piR-33614-122 RNF213 HSALNG0119185 ENDOV
GH17J080275 Enhancer 0.8 Ensembl dbSUPER 7.2 +13.9 13868 1.8 ZBTB10 KLF9 SAFB ZNF547 ZNF18 ZBTB7A ZNF785 ZSCAN4 SUZ12 EGR2 CARD14 RNF213 piR-33614-122 ENDOV
GH17J080422 Enhancer 1.1 Ensembl ENCODE 5.3 +164.4 164380 4.8 ZNF654 ZNF600 BRCA1 ZIC2 CTCF REST DEK TRIM22 ZNF217 SIN3A NPTX1 EIF4A3 RPTOR RNF213-AS1 ENDOV BAIAP2-DT RNF213 lnc-NPTX1-4 MIR4730 lnc-TMEM105-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RNF213 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RNF213

Top Transcription factor binding sites by QIAGEN in the RNF213 gene promoter:
  • C/EBPalpha
  • FOXC1
  • GR
  • GR-alpha
  • GR-beta
  • HOXA9
  • HOXA9B
  • Max1
  • Meis-1
  • Sp1

Genomic Locations for RNF213 Gene

Latest Assembly
chr17:80,260,820-80,398,794
(GRCh38/hg38)
Size:
137,975 bases
Orientation:
Plus strand

Previous Assembly
chr17:78,234,651-78,372,594
(GRCh37/hg19 by Entrez Gene)
Size:
137,944 bases
Orientation:
Plus strand

chr17:78,234,665-78,372,586
(GRCh37/hg19 by Ensembl)
Size:
137,922 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.
    • (Microbial infection) Interacts with M.tuberculosis protein Rv3655c, which impairs caspase-8 activation and suppresses macrophage apoptosis by blocking the extrinsic pathway.
    SequenceCaution:
    • Sequence=AAH32220.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB13444.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=BAB14708.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB15212.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB15280.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305}; Sequence=BAB15330.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAH10615.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=CAH56189.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 1]: Major isoform detected in all tissues examined.
    • [Isoform 2]: Minor isoform with restricted expression.

    Alternative splice isoforms for RNF213 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RNF213 Gene

Post-translational modifications for RNF213 Gene

  • Autoubiquitinated.
  • Ubiquitination at Lys4974, Lys412, Lys605, Lys1079, Lys1223, Lys1520, Lys2136, Lys2367, Lys2447, Lys2800, Lys2893, Lys2915, Lys2990, Lys3019, Lys3255, Lys3517, Lys3876, Lys3982, Lys4005, Lys4297, Lys4312, and Lys4335
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RNF213 Gene

Domains & Families for RNF213 Gene

Gene Families for RNF213 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for RNF213 Gene

Suggested Antigen Peptide Sequences for RNF213 Gene

GenScript: Design optimal peptide antigens:
  • ALK lymphoma oligomerization partner on chromosome 17 (ALO17_HUMAN)
  • RING finger protein 213 (RN213_HUMAN)

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.
Domain:
  • The RING-type zinc finger domain is required for the ubiquitin-protein ligase activity.
Family:
  • Belongs to the AAA ATPase family.
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 CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence={ECO:0000269|PubMed:21799892};.
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).
UniProtKB/Swiss-Prot Induction:
(Microbial infection) Is up-regulated in macrophages infected by M.tuberculosis.

Enzyme Numbers (IUBMB) for RNF213 Gene

Phenotypes From GWAS Catalog 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 IEA,TAS 26766444
GO:0016740 transferase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0016887 ATPase activity IEA,IDA 21799892
GO:0046872 metal ion binding IEA --
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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNF213

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RNF213 gene
Compartment Confidence
cytosol 5
nucleus 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RNF213 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IBA,IDA --
GO:0005737 cytoplasm IEA,IDA 21799892
GO:0005829 cytosol TAS --
GO:0016020 membrane HDA 19946888
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 IBA,IMP 26766444
GO:0006511 ubiquitin-dependent protein catabolic process IBA,IMP 26766444
GO:0016567 protein ubiquitination IEA,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

3 REFSEQ mRNAs :
26 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNF213

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

No ASD Table

Relevant External Links for RNF213 Gene

GeneLoc Exon Structure for
RNF213

Expression for RNF213 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for RNF213 Gene



Protein tissue co-expression partners for RNF213 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RNF213

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).

Evidence on tissue expression from TISSUES for RNF213 Gene

  • Nervous system(4.7)
  • Lung(4.6)
  • Spleen(4.4)
  • Lymph node(4.4)
  • Thyroid gland(4.4)
  • Liver(4.4)
  • Stomach(4.2)
  • Eye(4.2)
  • Intestine(3.4)
  • Blood(3.1)
  • Skin(2.3)
  • Kidney(2.3)
  • Heart(2.1)
  • Bone marrow(2)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RNF213 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • aorta
  • heart
General:
  • blood
  • blood vessel
  • skin
genes like me logo Genes that share expression patterns with RNF213: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia RNF213 29 30
  • 98.22 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RNF213 29 30
  • 77.69 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RNF213 29 30
  • 76.45 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rnf213 29 16 30
  • 73.27 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rnf213 29
  • 73.02 (n)
Oppossum
(Monodelphis domestica)
Mammalia RNF213 30
  • 59 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RNF213 30
  • 53 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RNF213 29 30
  • 60.96 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 64 (a)
OneToMany
-- 30
  • 60 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rnf213 29
  • 55.33 (n)
Zebrafish
(Danio rerio)
Actinopterygii rnf213a 29 30
  • 54.84 (n)
OneToMany
RNF213 (4 of 4) 30
  • 47 (a)
OneToMany
RNF213 (3 of 4) 30
  • 47 (a)
OneToMany
rnf213b 30
  • 29 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 23 (a)
OneToOne
Species where no ortholog for RNF213 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RNF213: view image
Alliance of Genome Resources:
Additional Orthologs for RNF213

Paralogs for RNF213 Gene

No data available for Paralogs for RNF213 Gene

Variants for RNF213 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RNF213 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
1033794 Uncertain Significance: Moyamoya disease 2 80,382,997(+) C/T
NM_001256071.3(RNF213):c.13997C>T (p.Thr4666Ile)
MISSENSE
1033795 Uncertain Significance: Moyamoya disease 2 80,295,638(+) G/T
NM_001256071.3(RNF213):c.1837G>T (p.Asp613Tyr)
MISSENSE
1037440 Uncertain Significance: not provided 80,294,865(+) C/A
NM_001256071.3(RNF213):c.1617C>A (p.Ser539Arg)
MISSENSE
870408 Pathogenic: Moyamoya disease 2 80,369,795(+) C/T
NM_001256071.3(RNF213):c.12353C>T (p.Ser4118Phe)
MISSENSE
916445 Conflicting Interpretations: Inborn genetic diseases; not provided 80,369,783(+) C/T
NM_001256071.3(RNF213):c.12341C>T (p.Thr4114Ile)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RNF213 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv189e215 CNV deletion 23714750
dgv430e201 CNV deletion 23290073
esv2166847 CNV deletion 18987734
esv2311590 CNV deletion 18987734
esv24254 CNV gain+loss 19812545
esv2473168 CNV deletion 19546169
esv2545815 CNV insertion 19546169
esv2716370 CNV deletion 23290073
esv2716371 CNV deletion 23290073
esv2716373 CNV deletion 23290073
esv2716376 CNV deletion 23290073
esv2716377 CNV deletion 23290073
esv29846 CNV loss 19812545
esv3307084 CNV mobile element insertion 20981092
esv3333965 CNV duplication 20981092
esv3641370 CNV loss 21293372
esv3641371 CNV loss 21293372
esv3641372 CNV loss 21293372
esv7605 OTHER inversion 19470904
nsv1066976 CNV gain 25217958
nsv1109112 CNV deletion 24896259
nsv1143867 CNV deletion 24896259
nsv2158 CNV deletion 18451855
nsv457968 CNV loss 19166990
nsv469591 CNV loss 16826518
nsv513486 CNV insertion 21212237
nsv576131 CNV loss 21841781
nsv821604 CNV deletion 20802225
nsv833562 CNV loss 17160897
nsv952383 CNV deletion 24416366
nsv952384 CNV deletion 24416366
nsv954541 CNV deletion 24416366

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)

Additional Variant Information for RNF213 Gene

Human Gene Mutation Database (HGMD)
RNF213
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNF213
Leiden Open Variation Database (LOVD)
RNF213

SNP Genotyping and Copy Number Assays for research

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

Disorders for RNF213 Gene

MalaCards: The human disease database

(14) MalaCards diseases for RNF213 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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, ECO:0000269 PubMed:27736983}. Note=Disease susceptibility is associated with variants 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}.

Additional Disease Information for RNF213

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 (Journal of human genetics 2011) 2 3 4 40 72
  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 4 72
  3. RNF213 rare variants in an ethnically diverse population with Moyamoya disease. (PMID: 25278557) Cecchi AC … Milewicz DM (Stroke 2014) 3 4 72
  4. 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 research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4
  5. RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients. (PMID: 27736983) Kobayashi H … Koizumi A (PloS one 2016) 3 4

Products for RNF213 Gene

Sources for RNF213 Gene