LongevityMap Gene

Gene details

HGNC symbol
SH3PXD2B 
Aliases
FTHS; HOFI; TKS4; TSK4; FAD49; KIAA1295 
Common name
SH3 and PX domains 2B 
Description
This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome (FTHS), and also Borrone Dermato-Cardio-Skeletal (BDCS) syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Cytogenetic Location
5q35.1
UCSC Genome Browser
View 5q35.1 on the UCSC genome browser
OMIM
613293
Ensembl
ENSG00000174705
UniProt/Swiss-Prot
G3V144_HUMAN
Entrez Gene
285590
UniGene
285666
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
sh3pxd2b
Mus musculus
Sh3pxd2b
Rattus norvegicus
RGD1309926

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
Caucasians
Study Design
Meta-analysis of GWAS in Caucasians from four prospective cohort studies: the Age, Gene/Environment Susceptibility-Reykjavik Study, the Cardiovascular Health Study, the Framingham Heart Study, and the Rotterdam Study participating in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. Longevity was defined as survival to age 90 years or older (n = 1,836); the comparison group comprised cohort members who died between the ages of 55 and 80 years (n = 1,955).
Conclusions
There were 273 single-nucleotide polymorphism (SNP) associations with p < .0001, but none reached significance after correcting for multiple testing
Indentifier
rs2569208
Reference