LongevityMap Gene
Gene details
- HGNC symbol
- HECW2
- Aliases
- NEDL2; NDHSAL
- Common name
- HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
- Description
- 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]
- Cytogenetic Location
- 2q32.3
- UCSC Genome Browser
- View 2q32.3 on the UCSC genome browser
- OMIM
- 617245
- Ensembl
- ENSG00000138411
- UniProt/Swiss-Prot
- HECW2_HUMAN
- Entrez Gene
- 57520
- UniGene
- 633212
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- hecw-1
- Danio rerio
- hecw2a
- Danio rerio
- hecw2b
- Drosophila melanogaster
- CG42797
- Mus musculus
- Hecw2
- Rattus norvegicus
- Hecw2
- Saccharomyces cerevisiae
- RSP5
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- European
- Study Design
- Meta-analysis of genome-wide association studies of survival and survival free of major disease or death. In total, there were 25,007 participants over 55 years of age and followed-up for over 10 years for mortality and over 8 years for event-free survival.
- Conclusions
- No SNP was significantly associated with mortality after correcting for multiple testing, but 14 independent SNPs were associated with time to death at a suggestive threshold
- Indentifier
- rs4850695
- Reference