LongevityMap Gene
Gene details
- HGNC symbol
- SH3BP4
- Aliases
- TTP; BOG25
- Common name
- SH3 domain binding protein 4
- Description
- This gene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. This protein is involved in cargo-specific control of clathrin-mediated endocytosis, specifically controlling the internalization of a specific protein receptor. [provided by RefSeq, Jul 2008]
- Cytogenetic Location
- 2q37.2
- UCSC Genome Browser
- View 2q37.2 on the UCSC genome browser
- OMIM
- 605611
- Ensembl
- ENSG00000130147
- UniProt/Swiss-Prot
- SH3B4_HUMAN
- Entrez Gene
- 23677
- UniGene
- 516777
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- Italian
- Study Design
- Genome-wide association study on 410 long-living individuals (age range, 90–109 years) and 553 young control individuals (age range, 18–48 years) using 318,237 SNPs. An independent population with 116 long-lived individuals and 160 controls was used for replication purposes.
- Conclusions
- A total of 67 SNPs were identified with an indication of potentially being associated with longevity (p < 1 × 10−4), though 66 were not further validated
- Indentifier
- rs4505466
- Reference