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
- ERBB4 (1 of many)
- Danio rerio
- erbb4b
- Danio rerio
- erbb4a
- Drosophila melanogaster
- Egfr
- 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