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

Caenorhabditis elegans: amph-1
Danio rerio: bin1a
Danio rerio: bin1b
Drosophila melanogaster: Amph
Mus musculus: Bin1
Rattus norvegicus: Bin1

In other databases

CellAge

This gene is present as 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