LongevityMap Gene

Gene details

HGNC symbol
PDLIM5 
Aliases
L9; ENH; LIM; ENH1 
Common name
PDZ and LIM domain 5 
Description
This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold protein that tethers protein kinases to the Z-disk in striated muscles. It is thought to function in cardiomyocyte expansion and in restraining postsynaptic growth of excitatory synapses. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
Cytogenetic Location
4q22.3
UCSC Genome Browser
View 4q22.3 on the UCSC genome browser
OMIM
605904
Ensembl
ENSG00000163110
UniProt/Swiss-Prot
A0A024RDE8_HUMAN
Entrez Gene
10611
UniGene
480311
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
alp-1
Danio rerio
pdlim5a
Danio rerio
pdlim5b
Drosophila melanogaster
Zasp52
Mus musculus
Pdlim5
Rattus norvegicus
Pdlim5

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
rs6532496
Reference