HECW2 Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | HECW2 |
| Official Name | HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 [Source:HGNC Symbol;Acc:HGNC:29853] |
| Ensembl ID | ENSG00000138411 |
| Bio databases IDs | |
| Aliases | HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 |
| Synonyms | A730039N16Rik, BUL2, D030049F17Rik, Gm971, HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2, mKIAA1301, NDHSAL, NEDL2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HECW2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- HECTc
- Domain with 2 conserved Trp (W) residues
- Helical box domain of E3 ubiquitin-protein ligase HECW1
- N-terminal domain of E3 ubiquitin-protein ligase HECW1 and 2
- WW
- Domain Homologous to E6-AP Carboxyl Terminus with
- enzyme
- protein binding
- Protein kinase C conserved region 2 (CalB)
- WW domain
- C2 domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- cervical cancer
- organismal death
- neurodevelopmental disorder with hypotonia, seizures, and absent language
- osteoporosis
- hereditary disorder
- survival
- colorectal cancer
- pancreatic cancer
- colon cancer
role in cell
- apoptosis
- expression in
- activation in
- ubiquitination in
- degradation in
- 5-fluorouracil resistance
- cell cycle progression
- lagging in
- irinotecan resistance
- lagging
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- microtubules
- mitotic spindle
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HECW2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of mitotic metaphase/anaphase transition
- negative regulation of sodium ion transmembrane transporter activity
- regulation of dendrite morphogenesis
- protein ubiquitination
- ubiquitin-dependent protein catabolic process
Cellular Component
Where in the cell the gene product is active
- mitotic spindle
- cytoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding