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
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