LongevityMap Gene

Gene details

HGNC symbol
PICALM 
Aliases
LAP; CALM; CLTH 
Common name
phosphatidylinositol binding clathrin assembly protein 
Description
This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
Cytogenetic Location
11q14.2
UCSC Genome Browser
View 11q14.2 on the UCSC genome browser
OMIM
603025
Ensembl
ENSG00000073921
UniProt/Swiss-Prot
A0A024R5L7_HUMAN
Entrez Gene
8301
UniGene
163893
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
picalm
Mus musculus
Picalm
Rattus norvegicus
Picalm

Studies (2)

Significant/Non-significant: 1/1

Study 1

Longevity Association
Significant
Population
Italian
Study Design
The common polymorphism rs3851179 in PICALM was studied in 105 centenarians and 359 healthy controls
Conclusions
There was a statistically significant difference in rs3851179 genotypes and allele frequencies in the centenarians
Indentifier
rs3851179
Reference

    Study 2

    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
    Apart APOE, no variants appeared to be associated with aging with a genome-wide level of significance
    Indentifier
    rs3851179
    Reference