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

Danio rerio
sh3bp4
Mus musculus
Sh3bp4
Rattus norvegicus
Sh3bp4

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