Gene: BIN1

Alternate names for this Gene: AMPH2|AMPHL|CNM2|SH3P9

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2q14.3

Description of this Gene: bridging integrator 1

Type of Gene: protein-coding

rs10207628 in BIN1 gene and Acute transient psychotic disorder PMID 22005930 2012 Genome-wide association study of Alzheimer's disease with psychotic symptoms.

rs10194375 in BIN1 gene and Alzheimer's Disease PMID 29777097 2018 GWAS on family history of Alzheimer's disease.

PMID 22005930 2012 Genome-wide association study of Alzheimer's disease with psychotic symptoms.

rs11694743 in BIN1 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs754107 in BIN1 gene and Myocardial Infarction PMID 21211798 2011 Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations.

rs121909273 in BIN1 gene and Myopathy, Centronuclear, Autosomal Recessive PMID 17676042 2007 Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.

PMID 20142620 2010 Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation.

PMID 22617344 2012 Clinical utility gene card for: Centronuclear and myotubular myopathies.

PMID 29950440 2018 A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.

PMID 24755653 2014 Mutations in BIN1 associated with centronuclear myopathy disrupt membrane remodeling by affecting protein density and oligomerization.

PMID 24549043 2014 Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy.