BIN1 Chromosome 2

Bridging integrator 1
50 variants 50 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
N-BAR domain containing
Locus Type
gene with protein product
Location
2q14.3
Ensembl
ENSG00000136717
Associated Conditions (9)
Myopathy
centronuclear
2
BIN1-related disorder
See cases
Thymoma
Inborn genetic diseases
Gastric cancer
Autosomal dominant nonsyndromic hearing loss 22
Key Variants
RS114833236
Conflicting classifications of pathogenicity
Myopathy, centronuclear, 2
Health Risk
RS115938552
Conflicting classifications of pathogenicity
Myopathy, centronuclear, 2
Health Risk
RS138047593
Conflicting classifications of pathogenicity
Myopathy, centronuclear, 2
Health Risk
RS138606879
Conflicting classifications of pathogenicity
Myopathy, centronuclear, 2
Health Risk
RS143258043
Conflicting classifications of pathogenicity
Myopathy, centronuclear, 2
Health Risk
RS1444368852
Conflicting classifications of pathogenicity
Myopathy, centronuclear, 2
Health Risk
RS148179522
Conflicting classifications of pathogenicity
Myopathy, centronuclear, 2
Health Risk
RS148945502
Conflicting classifications of pathogenicity
Myopathy, centronuclear, 2
Health Risk
RS1553458019
Conflicting classifications of pathogenicity
Myopathy, centronuclear, 2
Health Risk
RS1682909859
Conflicting classifications of pathogenicity
See cases, Myopathy, centronuclear
Health Risk
RS199658397
Conflicting classifications of pathogenicity
Myopathy, centronuclear, 2
Health Risk
RS200384643
Conflicting classifications of pathogenicity
Myopathy, centronuclear, 2
Health Risk
All Variants (50)
RSID Category Clinical Significance Conditions
RS114833236 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS115938552 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS138047593 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS138606879 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS143258043 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS1444368852 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS148179522 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS148945502 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS1553458019 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS1682909859 Health Risk Conflicting classifications of pathogenicity See cases, Myopathy, centronuclear
RS199658397 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS200384643 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS200878822 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS201397427 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS2104935838 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS267606681 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS35535012 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS367611371 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS370911793 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS371258305 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS372072916 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS372360787 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS372449622 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS374490688 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS375583449 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS528828320 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS535176915 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS541219767 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS552244334 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS556129959 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS61748158 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS745647728 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS753202898 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS759676621 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS763703697 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS764951306 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS765093741 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS765870974 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS769721985 Health Risk Conflicting classifications of pathogenicity —
RS770804438 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS773313892 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS776737413 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS779756862 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS78967885 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear, 2
RS121909275 Health Risk Likely pathogenic Myopathy, centronuclear, 2
RS1249621033 Health Risk Likely pathogenic Myopathy, centronuclear, 2
RS121909273 Health Risk Pathogenic Myopathy, centronuclear, 2
RS121909274 Health Risk Pathogenic Myopathy, centronuclear, 2
RS587783343 Health Risk Pathogenic Myopathy, centronuclear, 2
RS777176261 Health Risk Pathogenic/Likely pathogenic Myopathy, centronuclear, 2
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