LongevityMap Gene

Gene details

HGNC symbol
BIN1 
Aliases
AMPH2; AMPHL; SH3P9 
Common name
bridging integrator 1 
Description
This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Mar 2016]
Cytogenetic Location
2q14.3
UCSC Genome Browser
View 2q14.3 on the UCSC genome browser
OMIM
601248
Ensembl
ENSG00000136717
UniProt/Swiss-Prot
A0A024RAE9_HUMAN
Entrez Gene
274
UniGene
193163
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
si:rp71-68g1.4
Drosophila melanogaster
Amph
Mus musculus
Bin1
Rattus norvegicus
Bin1

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
Apart APOE, no variants appeared to be associated with aging with a genome-wide level of significance
Indentifier
rs744373
Reference