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