Aliases for RNF213 Gene
Aliases for RNF213 Gene
External Ids for RNF213 Gene
- HGNC: 14539
- Entrez Gene: 57674
- Ensembl: ENSG00000173821
- OMIM: 613768
- UniProtKB: Q63HN8
Previous HGNC Symbols for RNF213 Gene
- C17orf27
- KIAA1618
- MYMY2
Previous GeneCards Identifiers for RNF213 Gene
- GC17P075929
- GC17P078313
- GC17P073677
- GC17P078235
Summaries 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 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).
Additional gene information for RNF213 Gene
- Monarch Initiative
- Search for RNF213 at DataMed
- Search for RNF213 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNF213 Gene
Genomics for RNF213 Gene
GeneHancer (GH) Regulatory Elements for RNF213 Gene
Promoters and enhancers for RNF213 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around RNF213 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the RNF213 gene promoter:
-
- GR-beta
- GR-alpha
- GR
- FOXC1
- Sp1
- Max1
- C/EBPalpha
- HOXA9
- HOXA9B
- Meis-1
Regulatory Element Products
Genomic Locations for RNF213 Gene
Genomic Locations for RNF213 Gene
- chr17:80,260,840-80,398,786
- (GRCh38/hg38)
- Size:
- 137,947 bases
- Orientation:
- Plus strand
- chr17:78,234,665-78,372,586
- (GRCh37/hg19)
- 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:
-
- 17q25.3 by Entrez Gene
- 17q25.3 by HGNC
- 17q25.3 by Ensembl
RNF213 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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=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};
Protein Expression for RNF213 Gene
Post-translational modifications for RNF213 Gene
- Autoubiquitinated.
- Ubiquitination at posLast=49744974, Lys4335, Lys4312, posLast=42974297, Lys4005, Lys3982, Lys3876, Lys3517, posLast=32553255, posLast=30193019, Lys2990, Lys2915, posLast=28932893, Lys2800, Lys2447, Lys2367, Lys2136, Lys1520, posLast=12231223, posLast=10791079, Lys605, and posLast=412412
- Modification sites at PhosphoSitePlus
Other Protein References for RNF213 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for RNF213
- Invitrogen Antibodies for RNF213
- GeneTex RNF213 Antibody for RNF213
-
Santa Cruz Biotechnology (SCBT) Antibodies for RNF213
Protein Products
-
OriGene Purified Proteins for RNF213
- Search Origene for MassSpec and Protein Over-expression Lysates for RNF213
- Origene Custom Protein Services for RNF213
- antibodies-online: Search results for 3 available RNF213 Proteins ranked by validation data
- Compare Top RNF213 Proteins
-
Quality Products:
- Search GeneTex for Proteins for RNF213
Assay Products
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
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for RNF213 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q63HN8UniProtKB/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.
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:
- 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.
- 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
| 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 | -- |
Phenotypes for RNF213 Gene
- MGI mutant phenotypes for RNF213:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for RNF213:
-
- Decreased shRNA abundance (Z-score < -2)
- G0/1 arrest
- Increased G1 DNA content
- Synthetic lethal with paclitaxel
- Increased shRNA abundance (Z-score > 2)
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Increased transferrin (TF) endocytosis
Animal Models for RNF213 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for RNF213
-
CRISPR Products
-
OriGene CRISPR knockouts for RNF213
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RNF213
- genomics-online: gRNA clones - Search results for 57 available RNF213 gene related products
- Overview of 57 available RNF213 gene related products
- Applied Biological Materials CRISPR for RNF213
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RNF213
- GenScript: Design CRISPR guide RNA sequences for RNF213
miRNA for RNF213 Gene
- miRTarBase miRNAs that target RNF213
-
- hsa-mir-1-3p (MIRT005280)
- hsa-mir-335-5p (MIRT016943)
- hsa-mir-423-3p (MIRT042649)
- hsa-mir-99b-5p (MIRT044202)
- hsa-mir-10a-5p (MIRT047742)
- hsa-mir-101-3p (MIRT399110)
- hsa-mir-6848-3p (MIRT497073)
- hsa-mir-6843-3p (MIRT497074)
- hsa-mir-4452 (MIRT497075)
- hsa-mir-183-3p (MIRT497076)
- hsa-mir-4635 (MIRT497077)
- hsa-mir-1303 (MIRT525250)
- hsa-mir-127-5p (MIRT525251)
- hsa-mir-6806-3p (MIRT525252)
- hsa-mir-3928-5p (MIRT525253)
- hsa-mir-4738-3p (MIRT525254)
- hsa-mir-4496 (MIRT525255)
- hsa-mir-6856-5p (MIRT525256)
- hsa-mir-6758-5p (MIRT525257)
- hsa-mir-582-5p (MIRT622447)
- hsa-mir-216b-3p (MIRT622448)
- hsa-mir-603 (MIRT622449)
- hsa-mir-8485 (MIRT622450)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RNF213
- Browse OriGene Inhibitory RNA Products For RNF213
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNF213
- genomics-online: shRNA clones - Search results for 57 available RNF213 gene related products
- Overview of 57 available RNF213 gene related products
Clone Products
- VectorBuilder custom plasmid, inducible vectors for RNF213
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for RNF213
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RNF213
- Applied Biological Materials Clones for RNF213
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| cytoskeleton | 1 |
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005730 | nucleolus | IDA | -- |
| GO:0005737 | cytoplasm | IEA,IDA | 21799892 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0016020 | membrane | HDA,IBA | -- |
Pathways & Interactions for RNF213 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Class I MHC mediated antigen processing and presentation | ||
| 2 | Innate Immune System |
.61
|
|
Pathways by source for RNF213 Gene
4 Reactome pathways for RNF213 Gene
UniProtKB/Swiss-Prot Q63HN8-RN213_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for RNF213 Gene
Selected Interacting proteins:
Q63HN8-RN213_HUMAN
ENSP00000324392
for RNF213 Gene via
IID
STRING
UniProtKB
GPS-Prot Interaction Network for RNF213
| 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:0006511 | ubiquitin-dependent protein catabolic process | IMP | 26766444 |
| GO:0016567 | protein ubiquitination | IEA,IDA | 21799892 |
No data available for SIGNOR curated interactions 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 :
-
- ENST00000319921 5316 bps (uc002jyf.5)
- ENST00000411702 6428 bps (uc060ldr.1)
- ENST00000427003 3552 bps (uc060ldx.1)
- ENST00000508628 17730 bps (uc060ldc.1)
- ENST00000558116 3768 bps (uc060ldm.1)
Unigene Clusters for RNF213 Gene
CRISPR Products
-
OriGene CRISPR knockouts for RNF213
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RNF213
- genomics-online: gRNA clones - Search results for 57 available RNF213 gene related products
- Overview of 57 available RNF213 gene related products
- Applied Biological Materials CRISPR for RNF213
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RNF213
- GenScript: Design CRISPR guide RNA sequences for RNF213
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RNF213
- Browse OriGene Inhibitory RNA Products For RNF213
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNF213
- genomics-online: shRNA clones - Search results for 57 available RNF213 gene related products
- Overview of 57 available RNF213 gene related products
Clone Products
- VectorBuilder custom plasmid, inducible vectors for RNF213
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for RNF213
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RNF213
- Applied Biological Materials Clones for RNF213
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for RNF213 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
- Pre-Sertoli Cells Testis Cord
-
Blood (Hematopoietic System)
- Monocytes Peripheral Blood
-
Heart (Cardiovascular System)
- Mature Cardiac Fibroblasts Myocardium
-
Fibroblasts
- Mature Cardiac Fibroblasts Myocardium
-
Placenta (Extraembryonic Tissues)
- Primordial Germ Cells Allantois
-
Gonad
- Primordial Germ Cells Allantois
- Bone (Muscoskeletal System)
-
Spleen (Hematopoietic System)
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of RNF213 Gene:
RNF213SOURCE GeneReport for Unigene cluster for RNF213 Gene:
Hs.195642mRNA 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)
- Liver(4.3)
- Lymph node(4.3)
- Spleen(4.3)
- Eye(4.2)
- Stomach(4.2)
- Thyroid gland(4.2)
- Intestine(3.2)
- Blood(2.6)
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
Primer Products
-
OriGene qPCR primer pairs for RNF213
- genomics-online: primer clones - Search results for 57 available RNF213 gene related products
- Overview of 57 available RNF213 gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | RNF213 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | RNF213 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | RNF213 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Rnf213 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Rnf213 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | RNF213 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | RNF213 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | RNF213 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | rnf213 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | rnf213a 34 33 |
|
OneToMany | |
| RNF213 (4 of 4) 34 |
|
OneToMany | |||
| RNF213 (3 of 4) 34 |
|
OneToMany | |||
| rnf213b 34 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne |
- Species where no ortholog for RNF213 was found in the sources mined by GeneCards:
-
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for RNF213: view image
Paralogs for RNF213 Gene
No data available for Paralogs for RNF213 Gene
Variants for RNF213 Gene
| SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs112735431 | likely-pathogenic, risk-factor, Moyamoya disease 2 | 80,385,145(+) | G/A/C | coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant | |
| rs138223459 | uncertain-significance, Moyamoya disease 2 | 80,381,667(+) | G/A/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs139265462 | uncertain-significance, Moyamoya disease 2 | 80,368,043(+) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs144769597 | uncertain-significance, Moyamoya disease 2 | 80,288,179(+) | T/A | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant | |
| rs147868237 | uncertain-significance, Moyamoya disease 2 | 80,339,481(+) | C/A/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNF213 Gene
Disorders for RNF213 Gene
(10) MalaCards diseases for RNF213 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| moyamoya disease 2 |
|
|
| moyamoya disease 1 |
|
|
| anaplastic large cell lymphoma |
|
|
| cerebral arterial disease |
|
|
| phace syndrome |
|
|
Search RNF213 in MalaCards
View complete list of genes associated with diseases
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 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}.
Additional Disease Information for RNF213
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for RNF213 Gene
Publications for RNF213 Gene
- 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 44 58
- 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 58
- 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 58
- Endothelial RSPO3 Controls Vascular Stability and Pruning through Non-canonical WNT/Ca(2+)/NFAT Signaling. (PMID: 26766444) Scholz B … Augustin HG (Developmental cell 2016) 3 4 58
- RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients. (PMID: 27736983) Kobayashi H … Koizumi A (PloS one 2016) 3 4 58
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