Free for academic non-profit institutions. Other users need a Commercial license

Aliases for BIN1 Gene

Aliases for BIN1 Gene

  • Bridging Integrator 1 2 3 4 5
  • Amphiphysin II 2 3 4
  • Box-Dependent Myc-Interacting Protein 1 3 4
  • Amphiphysin-Like Protein 3 4
  • AMPHL 3 4
  • Box Dependant MYC Interacting Protein 1 3
  • AMPH2 3
  • SH3P9 3

External Ids for BIN1 Gene

Previous HGNC Symbols for BIN1 Gene


Previous GeneCards Identifiers for BIN1 Gene

  • GC02M125104
  • GC02M125732
  • GC02M127710
  • GC02M127898
  • GC02M127521
  • GC02M120113
  • GC02M127805

Summaries for BIN1 Gene

Entrez Gene Summary for BIN1 Gene

  • 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]

GeneCards Summary for BIN1 Gene

BIN1 (Bridging Integrator 1) is a Protein Coding gene. Diseases associated with BIN1 include Myopathy, Centronuclear, Autosomal Recessive and Myopathy, Centronuclear. Among its related pathways are Normal wtCFTR traffic / ER-to-Golgi and Fc gamma R-mediated phagocytosis. GO annotations related to this gene include identical protein binding and protein complex binding. An important paralog of this gene is AMPH.

UniProtKB/Swiss-Prot for BIN1 Gene

  • May be involved in regulation of synaptic vesicle endocytosis. May act as a tumor suppressor and inhibits malignant cell transformation.

Gene Wiki entry for BIN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BIN1 Gene

Genomics for BIN1 Gene

Regulatory Elements for BIN1 Gene

Enhancers for BIN1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around BIN1 on UCSC Golden Path with GeneCards custom track

Promoters for BIN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BIN1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the BIN1 gene promoter:

Genomic Location for BIN1 Gene

127,048,023 bp from pter
127,107,400 bp from pter
59,378 bases
Minus strand

Genomic View for BIN1 Gene

Genes around BIN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BIN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BIN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BIN1 Gene

Proteins for BIN1 Gene

  • Protein details for BIN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Myc box-dependent-interacting protein 1
    Protein Accession:
    Secondary Accessions:
    • O00297
    • O00545
    • O43867
    • O60552
    • O60553
    • O60554
    • O60555
    • O75514
    • O75515
    • O75516
    • O75517
    • O75518
    • Q659B7
    • Q92944
    • Q99688

    Protein attributes for BIN1 Gene

    593 amino acids
    Molecular mass:
    64699 Da
    Quaternary structure:
    • Heterodimer with AMPH. Binds SH3GLB1 (By similarity). Interacts (via SH3 domain) with SYNJ1. Interacts (via SH3 domain) with DNM1. Isoform IIA interacts with CLTC. Isoform IIB does not interact with CLTC. Isoform IIC1 does not interact with CLTC. Isoform IIC2 does not interact with CLTC. Interacts with AP2A2. Interacts with AP2B1. Interacts with MYC (via N-terminal transactivation domain); the interaction requires the integrity of the conserved MYC box regions 1 and 2. Interacts with BIN2. Interacts (SH3 domain) with HCV NS5A.
    • Sequence=AAC23441.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BIN1 Gene

    Alternative splice isoforms for BIN1 Gene

neXtProt entry for BIN1 Gene

Proteomics data for BIN1 Gene at MOPED

Post-translational modifications for BIN1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for BIN1 (BIN1)

No data available for DME Specific Peptides for BIN1 Gene

Domains & Families for BIN1 Gene

Suggested Antigen Peptide Sequences for BIN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 BAR domain.
  • Contains 1 BAR domain.
  • Contains 1 SH3 domain.
genes like me logo Genes that share domains with BIN1: view

No data available for Gene Families for BIN1 Gene

Function for BIN1 Gene

Molecular function for BIN1 Gene

UniProtKB/Swiss-Prot Function:
May be involved in regulation of synaptic vesicle endocytosis. May act as a tumor suppressor and inhibits malignant cell transformation.

Gene Ontology (GO) - Molecular Function for BIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051015 actin filament binding IDA 26506308
genes like me logo Genes that share ontologies with BIN1: view
genes like me logo Genes that share phenotypes with BIN1: view

Human Phenotype Ontology for BIN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BIN1 Gene

MGI Knock Outs for BIN1:

miRNA for BIN1 Gene

miRTarBase miRNAs that target BIN1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for BIN1 Gene

Localization for BIN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BIN1 Gene

Isoform BIN1: Nucleus.
Isoform IIA: Cytoplasm.

Subcellular locations from

Jensen Localization Image for BIN1 Gene COMPARTMENTS Subcellular localization image for BIN1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
plasma membrane 4
cytosol 3
endosome 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for BIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA --
GO:0016020 membrane IDA 16530520
GO:0031674 I band ISS --
GO:0060987 lipid tube IMP 19004523
genes like me logo Genes that share ontologies with BIN1: view

Pathways & Interactions for BIN1 Gene

genes like me logo Genes that share pathways with BIN1: view

Pathways by source for BIN1 Gene

1 Cell Signaling Technology pathway for BIN1 Gene
1 BioSystems pathway for BIN1 Gene

Gene Ontology (GO) - Biological Process for BIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006997 nucleus organization IMP 26506308
GO:0016032 viral process IEA --
GO:0030100 regulation of endocytosis IEA --
GO:0045664 regulation of neuron differentiation IMP 10412034
GO:0048711 positive regulation of astrocyte differentiation IMP 10412034
genes like me logo Genes that share ontologies with BIN1: view

No data available for SIGNOR curated interactions for BIN1 Gene

Drugs & Compounds for BIN1 Gene

(1) Drugs for BIN1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with BIN1: view

Transcripts for BIN1 Gene

Unigene Clusters for BIN1 Gene

Bridging integrator 1:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BIN1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b · 20c ^
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - - - - -
SP4: - - - - - - - -
SP5: - - - - - - - -
SP6: - - - - - - - - -
SP7: - - - - - - - - -
SP8: - - - - - - - - -
SP9: - - - - - - - - - -
SP10: - - - - - - - - - -
SP11: - - - - - - - - - - -
SP13: -
SP14: - -
SP15: - - - - - -

ExUns: 21a · 21b ^ 22a · 22b
SP1: -
SP2: -
SP3: -
SP4: -
SP5: -
SP6: -
SP7: -
SP8: -
SP9: -
SP10: -
SP11: -
SP14: -
SP15: -

Relevant External Links for BIN1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for BIN1 Gene

mRNA expression in normal human tissues for BIN1 Gene

mRNA differential expression in normal tissues according to GTEx for BIN1 Gene

This gene is overexpressed in Muscle - Skeletal (x15.8).

Protein differential expression in normal tissues from HIPED for BIN1 Gene

This gene is overexpressed in Brain (13.7), Frontal cortex (7.9), and Tonsil (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for BIN1 Gene

SOURCE GeneReport for Unigene cluster for BIN1 Gene Hs.193163

mRNA Expression by UniProt/SwissProt for BIN1 Gene

Tissue specificity: Ubiquitous. Highest expression in the brain and muscle. Isoform IIA is expressed only in the brain where it is concentrated in axon initial segments and nodes of Ranvier. Isoform BIN1 is widely expressed with highest expression in skeletal muscle.
genes like me logo Genes that share expression patterns with BIN1: view

Protein tissue co-expression partners for BIN1 Gene

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for BIN1 Gene

Orthologs for BIN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for BIN1 Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia BIN1 35
  • 92.66 (n)
  • 96.63 (a)
BIN1 36
  • 69 (a)
(Mus musculus)
Mammalia Bin1 35
  • 90.61 (n)
  • 95.9 (a)
Bin1 16
Bin1 36
  • 90 (a)
(Pan troglodytes)
Mammalia BIN1 35
  • 99.66 (n)
  • 100 (a)
BIN1 36
  • 97 (a)
(Rattus norvegicus)
Mammalia Bin1 35
  • 90.73 (n)
  • 95.56 (a)
(Bos Taurus)
Mammalia BIN1 36
  • 96 (a)
(Monodelphis domestica)
Mammalia BIN1 36
  • 84 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 42 (a)
(Gallus gallus)
Aves BIN1 35
  • 74.68 (n)
  • 80.8 (a)
BIN1 36
  • 80 (a)
(Anolis carolinensis)
Reptilia BIN1 36
  • 77 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia bin1 35
  • 72.12 (n)
  • 75.36 (a)
MGC76187 35
African clawed frog
(Xenopus laevis)
Amphibia bin1-prov 35
(Danio rerio)
Actinopterygii LOC563561 35
  • 61.14 (n)
  • 56.37 (a)
bin1 36
  • 60 (a)
BIN1 (1 of 2) 36
  • 53 (a)
fruit fly
(Drosophila melanogaster)
Insecta Amph 37
  • 41 (a)
Amph 36
  • 25 (a)
(Caenorhabditis elegans)
Secernentea F58G6.1 37
  • 32 (a)
amph-1 36
  • 27 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3172 36
  • 25 (a)
Species with no ortholog for BIN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BIN1 Gene

Gene Tree for BIN1 (if available)
Gene Tree for BIN1 (if available)

Paralogs for BIN1 Gene

Paralogs for BIN1 Gene

(2) SIMAP similar genes for BIN1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with BIN1: view

Variants for BIN1 Gene

Sequence variations from dbSNP and Humsavar for BIN1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_037425 Myopathy, centronuclear, 2 (CNM2)
VAR_037426 Myopathy, centronuclear, 2 (CNM2)
rs730306 -- 127,049,029(-) CAAGT(C/G)GAAGT intron-variant
rs730471 -- 127,105,127(+) AGCCC(A/T)TGCCT intron-variant
rs731818 -- 127,067,050(-) tccgt(C/T)cccct intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BIN1 Gene

Variant ID Type Subtype PubMed ID
nsv516759 CNV Loss 19592680
dgv4297n71 CNV Loss 21882294
nsv2911 CNV Insertion 18451855
dgv1245e1 CNV Complex 17122850
esv2720727 CNV Deletion 23290073
nsv10142 CNV Gain 18304495

Variation tolerance for BIN1 Gene

Residual Variation Intolerance Score: 43% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.68; 57.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BIN1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BIN1 Gene

Disorders for BIN1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for BIN1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myopathy, centronuclear, autosomal recessive
  • autosomal recessive centronuclear myopathy
myopathy, centronuclear
  • centronuclear myopathy, autosomal, modifier of
intracranial abscess
dental abscess
acute orbital inflammation
  • acute inflammation of orbit
- elite association - COSMIC cancer census association via MalaCards
Search BIN1 in MalaCards View complete list of genes associated with diseases


  • Myopathy, centronuclear, 2 (CNM2) [MIM:255200]: A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. {ECO:0000269 PubMed:17676042}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for BIN1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with BIN1: view

No data available for Genatlas for BIN1 Gene

Publications for BIN1 Gene

  1. Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. (PMID: 17676042) Nicot A.-S. … Laporte J. (Nat. Genet. 2007) 2 3 4 23 67
  2. From dynamic live cell imaging to 3D ultrastructure: novel integrated methods for high pressure freezing and correlative light-electron microscopy. (PMID: 20140253) Spiegelhalter C. … Laporte J. (PLoS ONE 2010) 3 23
  3. Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation. (PMID: 20142620) Claeys K.G. … Stojkovic T. (Neurology 2010) 3 23
  4. BIN1 localizes the L-type calcium channel to cardiac T-tubules. (PMID: 20169111) Hong T.T. … Shaw R.M. (PLoS Biol. 2010) 3 23
  5. Bin1 is linked to metastatic potential and chemosensitivity in neuroblastoma. (PMID: 19418541) Zhong X. … Malkas L.H. (Pediatr Blood Cancer 2009) 3 23

Products for BIN1 Gene

  • Addgene plasmids for BIN1

Sources for BIN1 Gene