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Ask your administrator if you think this is wrong. ======= RNF213 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: RNF213 * **<color #00a2e8>Official Name</color>**: ring finger protein 213 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=57674|57674]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q63HN8|Q63HN8]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=RNF213&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20RNF213|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/613768|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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]. * **<color #00a2e8>UniProt Summary</color>**: 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). {ECO:0000269|PubMed:21799892, ECO:0000269|PubMed:24658080, ECO:0000269|PubMed:26126547, ECO:0000269|PubMed:26278786, ECO:0000269|PubMed:26766444}. <button type='default' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> No Pfam Domain information is available for this gene. </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |negative regulation of non-canonical Wnt signaling pathway| |regulation of non-canonical Wnt signaling pathway| |sprouting angiogenesis| |protein autoubiquitination| |negative regulation of Wnt signaling pathway| |ATPase activity| |ubiquitin-protein transferase activity| |protein polyubiquitination| |angiogenesis| |protein homooligomerization| |regulation of Wnt signaling pathway| |blood vessel morphogenesis| |blood vessel development| |vasculature development| |cardiovascular system development| |protein complex oligomerization| |ubiquitin-dependent protein catabolic process| |modification-dependent protein catabolic process| |modification-dependent macromolecule catabolic process| |proteolysis involved in cellular protein catabolic process| |cellular protein catabolic process| |tube morphogenesis| |protein catabolic process| |protein ubiquitination| |protein modification by small protein conjugation| |tube development| |nucleolus| |circulatory system development| |anatomical structure formation involved in morphogenesis| |cellular macromolecule catabolic process| |protein modification by small protein conjugation or removal| |macromolecule catabolic process| |organonitrogen compound catabolic process| |negative regulation of signal transduction| |proteolysis| |negative regulation of cell communication| |negative regulation of signaling| |protein-containing complex assembly| |negative regulation of response to stimulus| |organic substance catabolic process| |cellular catabolic process| |protein-containing complex subunit organization| |membrane| </modal> \\ === CRISPR Data === <button type='default' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> No hits were found. </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 3079 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 8.76 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='RNF213 Expression in NALM6 Cells: 8.76'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1