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Ask your administrator if you think this is wrong. ======= HECW2 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: HECW2 * **<color #00a2e8>Official Name</color>**: HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=57520|57520]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9P2P5|Q9P2P5]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=HECW2&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20HECW2|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/617245|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: This gene encodes a member of a family of E3 ubiquitin ligases which plays an important role in the proliferation, migration and differentiation of neural crest cells as a regulator of glial cell line-derived neurotrophic factor (GDNF)/Ret signaling. This gene also plays an important role in angiogenesis through stabilization of endothelial cell-to-cell junctions as a regulator of angiomotin-like 1 stability. The encoded protein contains an N-terminal calcium/lipid-binding (C2) domain involved in membrane targeting, two-four WW domains responsible for cellular localization and substrate recognition, and a C-terminal homologous with E6-associated protein C-terminus (HECT) catalytic domain. Naturally occurring mutations in this gene are associated with neurodevelopmental delay, hypotonia, and epilepsy. The decreased expression of this gene in the aganglionic colon is associated with Hirschsprung's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]. * **<color #00a2e8>UniProt Summary</color>**: E3 ubiquitin-protein ligase that mediates ubiquitination of TP73. Acts to stabilize TP73 and enhance activation of transcription by TP73 (PubMed:12890487). Involved in the regulation of mitotic metaphase/anaphase transition (PubMed:24163370). {ECO:0000269|PubMed:12890487, ECO:0000269|PubMed:24163370}. <button type='primary' 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'> |HECT| |C2| |WW| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |negative regulation of sodium ion transmembrane transporter activity| |negative regulation of sodium ion transmembrane transport| |negative regulation of sodium ion transport| |regulation of mitotic metaphase/anaphase transition| |regulation of metaphase/anaphase transition of cell cycle| |regulation of sodium ion transmembrane transporter activity| |regulation of mitotic sister chromatid separation| |regulation of chromosome separation| |regulation of sodium ion transmembrane transport| |regulation of mitotic sister chromatid segregation| |negative regulation of ion transmembrane transporter activity| |mitotic spindle| |negative regulation of transporter activity| |regulation of sister chromatid segregation| |negative regulation of cation transmembrane transport| |regulation of sodium ion transport| |regulation of dendrite morphogenesis| |negative regulation of ion transmembrane transport| |regulation of chromosome segregation| |negative regulation of transmembrane transport| |negative regulation of ion transport| |regulation of dendrite development| |regulation of mitotic nuclear division| |regulation of nuclear division| |positive regulation of protein catabolic process| |ubiquitin protein ligase activity| |regulation of ion transmembrane transporter activity| |regulation of transmembrane transporter activity| |regulation of transporter activity| |protein polyubiquitination| |regulation of cell morphogenesis involved in differentiation| |proteasome-mediated ubiquitin-dependent protein catabolic process| |regulation of cation transmembrane transport| |regulation of chromosome organization| |proteasomal protein catabolic process| |regulation of protein catabolic process| |regulation of metal ion transport| |regulation of mitotic cell cycle phase transition| |positive regulation of catabolic process| |regulation of cell cycle phase transition| |regulation of ion transmembrane transport| |negative regulation of transport| |regulation of cell morphogenesis| |regulation of neuron projection development| |ubiquitin-dependent protein catabolic process| |modification-dependent protein catabolic process| |modification-dependent macromolecule catabolic process| |regulation of transmembrane transport| |proteolysis involved in cellular protein catabolic process| |cellular protein catabolic process| |regulation of mitotic cell cycle| |regulation of neuron differentiation| |protein catabolic process| |protein ubiquitination| |regulation of plasma membrane bounded cell projection organization| |regulation of ion transport| |regulation of cell projection organization| |regulation of cell cycle process| |protein modification by small protein conjugation| |regulation of neurogenesis| |cellular macromolecule catabolic process| |regulation of nervous system development| |regulation of cell development| |protein modification by small protein conjugation or removal| |regulation of catabolic process| |macromolecule catabolic process| |regulation of anatomical structure morphogenesis| |organonitrogen compound catabolic process| |negative regulation of molecular function| |regulation of cell cycle| |proteolysis| |regulation of organelle organization| |generation of neurons| |neurogenesis| |positive regulation of protein metabolic process| |organic substance catabolic process| |cellular catabolic process| |regulation of cell differentiation| |regulation of transport| </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>**: 6099 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 2.58 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='HECW2 Expression in NALM6 Cells: 2.58'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1