LongevityMap Gene

Gene details

HGNC symbol
ERBB4 
Aliases
HER4; ALS19; p180erbB4 
Common name
erb-b2 receptor tyrosine kinase 4 
Description
This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
Cytogenetic Location
2q34
UCSC Genome Browser
View 2q34 on the UCSC genome browser
OMIM
600543
Ensembl
ENSG00000178568
UniProt/Swiss-Prot
ERBB4_HUMAN
Entrez Gene
2066
UniGene
390729
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
erbb4a
Mus musculus
Erbb4
Rattus norvegicus
Erbb4

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
American, English, Irish
Study Design
10 late-onset Alzheimer's disease genes were tested for association with human aging in the dataset (1385 samples with documented age at death, age range: 58–108 years; mean age at death: 80.2 years) using the most significant SNPs found in the previous studies. A set of 41 tentative SNPs span the genome were identified in this study.
Conclusions
Some signals were at best tentative but may merit study in larger sample sets
Indentifier
rs4673651
Reference