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Aliases for RNF213 Gene

Aliases for RNF213 Gene

  • Ring Finger Protein 213 2 3
  • KIAA1618 2 3 4 6
  • ALO17 3 4 6
  • ALK Lymphoma Oligomerization Partner On Chromosome 17 3 4
  • Mysterin 3 4
  • C17orf27 3 4
  • MYMY2 3 6
  • MYSTR 3 4
  • Chromosome 17 Open Reading Frame 27 2
  • E3 Ubiquitin-Protein Ligase RNF213 3
  • RING Finger Protein 213 4
  • Moyamoya Disease 2 2
  • EC 6.3.2.- 4
  • KIAA1554 4
  • NET57 3

External Ids for RNF213 Gene

Previous Symbols for RNF213 Gene

  • C17orf27
  • KIAA1618
  • MYMY2

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 anaplastic large cell lymphoma. GO annotations related to this gene include nucleotide binding and ATPase activity.

UniProtKB/Swiss-Prot for RNF213 Gene

  • Probable E3 ubiquitin-protein ligase that may play a role in angiogenesis. May also have an ATPase activity

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

Genomic Location for RNF213 Gene

Start:
80,260,844 bp from pter
End:
80,398,786 bp from pter
Size:
137,943 bases
Orientation:
Plus strand

Genomic View for RNF213 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RNF213 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNF213 Gene

Regulatory Elements 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:
    No Data Available
    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

  • Autoubiquitinates.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys412, Lys605, Lys1079, Lys1223, Lys1520, Lys2003, Lys2136, Lys2367, Lys2447, Lys2800, Lys2893, Lys2915, Lys2990, Lys3019, Lys3255, Lys3517, Lys3876, Lys3982, Lys4005, Lys4297, Lys4312, Lys4335, and Lys4974

Other Protein References for RNF213 Gene

No data available for DME Specific Peptides for RNF213 Gene

Domains for RNF213 Gene

Gene Families for RNF213 Gene

HGNC:
  • RNF :RING-type (C3HC4) zinc fingers

Protein Domains for RNF213 Gene

Suggested Antigen Peptide Sequences for RNF213 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q63HN8

UniProtKB/Swiss-Prot:

RN213_HUMAN
Domain:
  • The RING-type zinc finger domain is required for the ubiquitin-protein ligase activity:
    • Q63HN8
Similarity:
  • Contains 1 RING-type zinc finger.:
    • Q63HN8
genes like me logo Genes that share domains with RNF213: view

Function for RNF213 Gene

Molecular function for RNF213 Gene

UniProtKB/Swiss-Prot Function: Probable E3 ubiquitin-protein ligase that may play a role in angiogenesis. May also have an ATPase activity

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 IDA 21799892
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

Phenotypes for RNF213 Gene

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

miRNA for RNF213 Gene

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for RNF213 Gene

Localization for RNF213 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNF213 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RNF213 Gene COMPARTMENTS Subcellular localization image for RNF213 gene
Compartment Confidence
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for RNF213 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with RNF213: view

Pathways for RNF213 Gene

SuperPathways for RNF213 Gene

No Data Available

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:0006200 obsolete ATP catabolic process --
GO:0016567 protein ubiquitination IDA 21799892
GO:0051865 protein autoubiquitination IDA 21799892
genes like me logo Genes that share ontologies with RNF213: view

No data available for Pathways by source for RNF213 Gene

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

Integrated Proteomics: protein expression 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 expressions with RNF213: view

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 35
  • 98.22 (n)
  • 97.14 (a)
RNF213 36
  • 97 (a)
OneToOne
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 36
  • 64 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RNF213 36
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RNF213 36
  • 53 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rnf213 35
  • 73.02 (n)
  • 67.17 (a)
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 RNF213 (3 of 4) 36
  • 47 (a)
OneToMany
RNF213 (4 of 4) 36
  • 47 (a)
OneToMany
rnf213a 35
  • 54.84 (n)
  • 47.68 (a)
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 MAF
rs4073111 -- 80,283,792(+) AGCCT(C/G)AGGAT intron-variant
rs4075499 -- 80,327,059(-) GCAAA(A/G)AGAGA intron-variant
rs4889843 -- 80,325,519(+) ACAAA(C/T)GGAGA intron-variant
rs4889844 -- 80,325,697(+) CCCCA(A/G)GTGTT intron-variant
rs4889845 -- 80,329,760(+) tggga(A/G)gtcga intron-variant

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

Relevant External Links for RNF213 Gene

HapMap Linkage Disequilibrium report
RNF213
Human Gene Mutation Database (HGMD)
RNF213

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

Disorders for RNF213 Gene

(1) OMIM Diseases for RNF213 Gene (613768)

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}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Note=A chromosomal aberration involving ALO17 is associated with anaplastic large-cell lymphoma (ALCL). Translocation t(2;17)(p23;q25) with ALK.

(1) University of Copenhagen DISEASES for RNF213 Gene

Relevant External Links for RNF213

Genetic Association Database (GAD)
RNF213
Human Genome Epidemiology (HuGE) Navigator
RNF213
genes like me logo Genes that share disorders with RNF213: view

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
  2. 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
  3. 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
  4. Identification of novel fusion partners of ALK, the anaplastic lymphoma kinase, in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor. (PMID: 12112524) Cools J. … Marynen P. (Genes Chromosomes Cancer 2002) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for RNF213 Gene

Sources for RNF213 Gene

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