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
uncharacterized_F1R8
Mus musculus
Hecw2
Rattus norvegicus
Hecw2

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