| 简介 | 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]
Diseases associated with HECW2 include Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language and Epilepsy, Idiopathic Generalized. 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 ubiquitin-protein transferase activity. An important paralog of this gene is HECW1.
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).
Cytoplasm {ECO:0000250}
Cytoplasm, cytoskeleton, spindle {ECO:0000269 PubMed:24163370}
cytoskeleton 5
Quaternary structure:
Interacts with TP73 (PubMed:12890487).
Interacts with FZR1 (PubMed:24163370). |
|---|