LongevityMap Gene

Gene details

HGNC symbol
ERBB2 
Aliases
NEU; NGL; HER2; TKR1; CD340; HER-2; MLN; 19; HER-2/neu 
Common name
erb-b2 receptor tyrosine kinase 2 
Description
This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]
Cytogenetic Location
17q12
UCSC Genome Browser
View 17q12 on the UCSC genome browser
OMIM
164870
Ensembl
ENSG00000141736
UniProt/Swiss-Prot
ERBB2_HUMAN
Entrez Gene
2064
UniGene
446352
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
erbb2
Drosophila melanogaster
Egfr
Mus musculus
Erbb2
Rattus norvegicus
Erbb2

In other databases

GenAge human genes
  • This gene is present as ERBB2

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
Italian (Southern)
Study Design
A two-stage case-control study was performed to identify the association between longevity and variation of in homeostasis regulation pathway genes. 317 SNPs in 104 genes were analyzed in 78 cases (≥90 years, median age 98 years, 42 females) and 71 controls (<90 years, median age 67 years, 32 females) in stage 1. Then, 31 candidate SNPs identified in stage 1 (π markers = 0.1) were analyzed in an independent sample composed by 288 cases (≥90 years, median age 92 years, 163 females) and 554 controls (<90 years, median age 67 years, 277 females).
Conclusions
After adjustment for multiple testing, no significant association was identified between various SNPs and longevity.
Indentifier
rs1058808
Reference