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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BIN1 Gene

protein-coding   GIFtS: 67
GCID: GC02M127898

Bridging Integrator 1


(Previous symbol: AMPHL)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Bridging Integrator 11 2 3     AMPH22
AMPHL1 2 3 5     SH3P92
Amphiphysin II1 2 3     Box Dependant MYC Interacting Protein 12
Amphiphysin-Like Protein2 3     Myc Box-Dependent-Interacting Protein 12
Box-Dependent Myc-Interacting Protein 12 3     

External Ids:    HGNC: 10521   Entrez Gene: 2742   Ensembl: ENSG000001367177   OMIM: 6012485   UniProtKB: O004993   

Export aliases for BIN1 gene to outside databases

Previous GC identifers: GC02M125104 GC02M125732 GC02M127710 GC02M127521 GC02M120113


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 ten
transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also
been described. (provided by RefSeq, Sep 2011)

GeneCards Summary for BIN1 Gene: 
BIN1 (bridging integrator 1) is a protein-coding gene. Diseases associated with BIN1 include orbital cellulitis, and centronuclear myopathy 2, and among its related super-pathways are Clathrin-dependent protein traffic. GO annotations related to this gene include protein complex binding and protein heterodimerization activity. An important paralog of this gene is AMPH.

UniProtKB/Swiss-Prot: BIN1_HUMAN, O00499
Function: 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022135.16  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BIN1 gene promoter:
         NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): BIN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for BIN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BIN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q14   Ensembl cytogenetic band:  2q14.3   HGNC cytogenetic band: 2q14

BIN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BIN1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M127898:  view genomic region     (about GC identifiers)

Start:
127,805,603 bp from pter      End:
127,864,931 bp from pter
Size:
59,329 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BIN1_HUMAN, O00499 (See protein sequence)
Recommended Name: Myc box-dependent-interacting protein 1  
Size: 593 amino acids; 64699 Da
Subunit: 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
Subcellular location: Isoform BIN1: Nucleus
Subcellular location: Isoform IIA: Cytoplasm
Sequence caution: Sequence=AAC23441.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
6 PDB 3D structures from and Proteopedia for BIN1:
1MUZ (3D)        1MV0 (3D)        1MV3 (3D)        2FIC (3D)        2RMY (3D)        2RND (3D)    
Secondary accessions: O00297 O00545 O43867 O60552 O60553 O60554 O60555 O75514 O75515 O75516
O75517 O75518 Q659B7 Q92944 Q99688
Alternative splicing: 11 isoforms:  O00499-1   O00499-2   O00499-3   O00499-4   O00499-5   O00499-6   O00499-7   O00499-8   
O00499-9   O00499-10   O00499-11   

Explore the universe of human proteins at neXtProt for BIN1: NX_O00499

Explore proteomics data for BIN1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by protein kinase C (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O00499

  • BIN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BIN1 Protein Expression
    REFSEQ proteins (10 alternative transcripts): 
    NP_004296.1  NP_647593.1  NP_647594.1  NP_647595.1  NP_647596.1  NP_647597.1  NP_647598.1  NP_647599.1  
    NP_647600.1  NP_647601.1  

    ENSEMBL proteins: 
     ENSP00000365281   ENSP00000350654   ENSP00000376760   ENSP00000259237   ENSP00000259238  
     ENSP00000315411   ENSP00000376761   ENSP00000315388   ENSP00000315284   ENSP00000316779  
     ENSP00000386797  

    Human Recombinant Protein Products for BIN1: 
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    Novus Biologicals BIN1 Proteins
    Novus Biologicals BIN1 Lysates
    Sino Biological Recombinant Protein for BIN1
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for BIN1
    Cloud-Clone Corp. Proteins for BIN1 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA--
    GO:0008021synaptic vesicle IEA--
    GO:0015629actin cytoskeleton TAS9182667
    GO:0043196varicosity IEA--

    BIN1 for ontologies           About GeneDecksing



    BIN1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of BIN1
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    GenScript Superior Antibodies for BIN1
    Novus Biologicals BIN1 Antibodies
    Abcam antibodies for BIN1
    Cloud-Clone Corp. Antibodies for BIN1 
    ThermoFisher Antibody for BIN1
    Search LSBio for Antibodies for BIN1 

    Assay Products for BIN1: 
    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for BIN1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for BIN1 
    Cloud-Clone Corp. CLIAs for BIN1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR011511 SH3_2
     IPR027267 AH/BAR-dom
     IPR003023 Amphiphysin_2
     IPR001452 SH3_domain
     IPR004148 BAR_dom

    Graphical View of Domain Structure for InterPro Entry O00499

    ProtoNet protein and cluster: O00499

    3 Blocks protein domains:
    IPB001452 SH3 domain signature
    IPB003005 Amphiphysin signature
    IPB003023 Amphiphysin isoform 2 signature


    UniProtKB/Swiss-Prot: BIN1_HUMAN, O00499
    Similarity: Contains 1 BAR domain
    Similarity: Contains 1 SH3 domain


    BIN1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BIN1_HUMAN, O00499
    Function: May be involved in regulation of synaptic vesicle endocytosis. May act as a tumor suppressor and
    inhibits malignant cell transformation

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10903846
    GO:0032403protein complex binding IEA--
    GO:0046982protein heterodimerization activity IEA--
    GO:0051020GTPase binding IEA--
         
    BIN1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for BIN1:
     Enable proliferation in B-Raf   Increased S DNA content  Increased cell death in breast 

         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Bin1):
     behavior/neurological  cardiovascular system  cellular  endocrine/exocrine gland  homeostasis/metabolism 
     immune system  integument  mortality/aging  muscle  tumorigenesis 

    BIN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Bin1tm1Gcp for BIN1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for BIN1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for BIN1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BIN1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BIN1 

    miRNA
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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate BIN1:
    hsa-miR-22 hsa-miR-607 hsa-miR-1305 hsa-miR-646 hsa-miR-211 hsa-miR-204 hsa-miR-2116 hsa-miR-296-5p
    SwitchGear 3'UTR luciferase reporter plasmidBIN1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for BIN1
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 10): BIN1 (NM_004305)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BIN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BIN1
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BIN1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for BIN1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Clathrin-dependent protein traffic
    Clathrin-dependent protein traffic0.66
    wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)0.35
    Transport Clathrin-coated vesicle cycle0.66
    2Arf6 trafficking events
    Arf6 trafficking events

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for BIN1
        Clathrin-dependent protein traffic


    2 GeneGo (Thomson Reuters) Pathways for BIN1
        wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
    Transport Clathrin-coated vesicle cycle

    1 BioSystems Pathway for BIN1
        Arf6 trafficking events




    BIN1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BIN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/56 Interacting proteins for BIN1 (O004991, 2, 3 ENSP000003167794) via UniProtKB, MINT, STRING, and/or I2D (see all 56)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011062, 3, ENSP000003672074MINT-7306785 MINT-7306800 MINT-7306848 MINT-7306839 MINT-7306820 I2D: score=3 STRING: ENSP00000367207
    SNX4O952192, 3, ENSP000002517754MINT-58437 MINT-58440 MINT-58438 MINT-58439 I2D: score=4 STRING: ENSP00000251775
    RIN3Q8TB242, 3, ENSP000002164874MINT-58368 MINT-62883 MINT-58365 MINT-58369 I2D: score=3 STRING: ENSP00000216487
    DLGAP4Q9Y2H01, 3, ENSP000003630234EBI-719094,EBI-722139 I2D: score=2 STRING: ENSP00000363023
    REPS2Q8NFH82, ENSP000003498244MINT-7027462 MINT-7027569 MINT-7027512 MINT-7027708 MINT-7027613 MINT-7027653 STRING: ENSP00000349824
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006897endocytosis IEA--
    GO:0007275multicellular organismal development IEA--
    GO:0008283cell proliferation TAS8782822
    GO:0019048modulation by virus of host morphology or physiology IEA--
    GO:0042692muscle cell differentiation IEA--

    BIN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BIN1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BIN1

    1 Novoseek inferred chemical compound relationship for BIN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    estrogen 0 3 10652430 (1), 15562774 (1), 15522178 (1)

    Search CenterWatch for drugs/clinical trials and news about BIN1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BIN1 gene (10 alternative transcripts): 
    NM_004305.3  NM_139343.2  NM_139344.2  NM_139345.2  NM_139346.2  NM_139347.2  NM_139348.2  NM_139349.2  
    NM_139350.2  NM_139351.2  

    Unigene Cluster for BIN1:

    Bridging integrator 1
    Hs.193163  [show with all ESTs]
    Unigene Representative Sequence: NM_139343
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376113(uc010yzf.2) ENST00000357970 ENST00000393040 ENST00000348750
    ENST00000259238(uc002tnw.2) ENST00000346226 ENST00000393041 ENST00000351659
    ENST00000352848(uc002tnu.2 uc002tnx.2) ENST00000316724(uc002tns.2 uc002tnt.2 uc010yzg.2 uc002tnv.2 uc002tny.2 uc002tnz.2 uc002toa.2 uc002tob.2 uc002toc.2)
    ENST00000462958 ENST00000409400 ENST00000466111 ENST00000484253

    miRNA
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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate BIN1:
    hsa-miR-22 hsa-miR-607 hsa-miR-1305 hsa-miR-646 hsa-miR-211 hsa-miR-204 hsa-miR-2116 hsa-miR-296-5p
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    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BIN1
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    Additional mRNA sequence: 

    AF001383.1 AF004015.1 AF043898.1 AF043899.1 AF043900.1 AF043901.1 AF068914.1 AF068915.1 
    AF068916.1 AF068917.1 AF068918.1 AF070576.1 AK295300.1 AK301153.1 AL713697.1 BC004101.2 
    BT006865.1 U68485.1 U87558.1 

    24/28 DOTS entries (see all 28):

    DT.100828587  DT.100828595  DT.40107021  DT.100030756  DT.120963180  DT.100030754  DT.100828596  DT.100030762 
    DT.92450248  DT.100828594  DT.92450234  DT.100828605  DT.40107022  DT.87017046  DT.40124099  DT.40296784 
    DT.95378446  DT.100828597  DT.100828607  DT.120963172  DT.217663  DT.100828598  DT.75141741  DT.92450238 

    24/433 AceView cDNA sequences (see all 433):

    AF070576 BG152520 BE465824 BM790502 AI680601 BG056891 AF043898 AI139685 
    BX350506 NM_139349 AU105317 BQ181421 BM671053 BM759648 AI203097 BM705180 
    BM701895 BM695132 CR614291 NM_139348 AW138976 BQ027120 AW205316 T16499 

    GeneLoc Exon Structure

    5/16 Alternative Splicing Database (ASD) splice patterns (SP) for BIN1 (see all 16)    About this scheme

    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:                                -                                   -     -                       -                 -     -                 -     -         

    ExUns: 21a · 21b ^ 22a · 22b
    SP1:        -               
    SP2:        -               
    SP3:        -               
    SP4:        -               
    SP5:        -               


    ECgene alternative splicing isoforms for BIN1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BIN1 expression in normal human tissues (normalized intensities)      BIN1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTGCCTGAA
    BIN1 Expression
    About this image


    BIN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/31 selected tissues (see all 31) fully expand
     
     Limb (Muscoskeletal System)    fully expand to see all 7 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod
             limb/hindlimb/leg   
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Myelinating Oligodendrocyte Cells Forebrain White Matter
             Cerebral Cortex
     
     Uterus (Reproductive System)    fully expand to see all 5 entries
             uterus, post-menopause ; glandular cells   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             skeletal muscle ; myocytes   
             cavities and their linings/intraembryonic coelom/diaphragm   
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   

    See BIN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BIN1

    SOURCE GeneReport for Unigene cluster: Hs.193163

    UniProtKB/Swiss-Prot: BIN1_HUMAN, O00499
    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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for BIN1 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bin11 , 5 bridging integrator 11, 5 90.08(n)1
    95.69(a)1
      18 (18.01 cM)5
    309481  NM_009668.21  NP_033798.11 
     323772175 
    chicken
    (Gallus gallus)
    Aves BIN16
    bridging integrator 1
    82(a)
    1 ↔ 1
    7(23184010-23267807)
    lizard
    (Anolis carolinensis)
    Reptilia BIN16
    bridging integrator 1
    78(a)
    1 ↔ 1
    GL343344.1(568049-742179)
    African clawed frog
    (Xenopus laevis)
    Amphibia bin1-prov2 bridging integrator 1 80.23(n)    BC046852.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5635611 myc box-dependent-interacting protein 1-like 64.47(n)
    60.93(a)
      563561  XM_001921399.3  XP_001921434.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta Amph1 , 3 NOT synaptic vesicle endocytosis3
    Amphiphysin1
    41(a)3
    48.01(n)1
    36.83(a)1
      363831  NM_078993.21  NP_523717.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F58G6.13
    amph-11
    amphiphysin like3
    Protein AMPH-11
    32(a)3
    42.46(n)1
    30.91(a)1
      IV(9644867-9647871)3
    1777971  NM_069310.21  NP_501711.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BIN1 gene
    AMPH2  BIN22  
    2 SIMAP similar genes for BIN1 using alignment to 2 protein entries:     BIN1_HUMAN (see all proteins):
    AMPH    BIN2

    BIN1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1492 SNPs in BIN1 are shown (see all 1492)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0374264
    Myopathy, centronuclear, 2 (CNM2)4--see VAR_0374262 D N mis40--------
    VAR_0374254
    Myopathy, centronuclear, 2 (CNM2)4--see VAR_0374252 K N mis40--------
    rs38357811,2
    C--120114571(-) CTCAG-/ATAG  
            
    GGCAT
    10 -- int10--------
    rs3718884871,2
    C--120119459(+) CATGC-/CAAGAGC 10 -- int10--------
    rs38341091,2
    C--120120811(-) CTCCC-/TGCCCT 10 -- int10--------
    rs1401713371,2
    C--120124592(+) GAAAC-/TGGTGTG 10 -- int10--------
    rs38320461,2
    C--120135053(-) tgtgt-/GTG   
       TGTGT
    tgCTG
    10 -- int10--------
    rs3688980081,2
    C--120135053(+) GCAGC-/ACCACAC 10 -- int10--------
    rs672158671,2
    C--120137943(+) GTGTG-/AAAAAA 10 -- int11Minor allele frequency- A:0.00CSA 2
    rs105735821,2
    C--120142647(+) CAGCC-/CACA  
      CACACA
    CACAC
    10 -- int10--------

    HapMap Linkage Disequilibrium report for BIN1 (127805603 - 127864931 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for BIN1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2720727CNV Deletion23290073
    nsv2911CNV Insertion18451855
    dgv4297n71CNV Loss21882294
    nsv516759CNV Loss19592680
    nsv10142CNV Gain18304495
    dgv1245e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): BIN1

    Locus Specific Mutation Databases (LSDB): BIN1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601248   
    OMIM disorders: 255200  
    UniProtKB/Swiss-Prot: BIN1_HUMAN, O00499
  • 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. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 20/28 diseases for BIN1 (see all 28):    About MalaCards
    orbital cellulitis    centronuclear myopathy 2    intracranial abscess    cellulitis
    casp10-related autoimmune lymphoproliferative syndrome    centronuclear myopathy    diffuse astrocytoma    botulism
    wound botulism    central neurocytoma    muscle disorders    differentiating neuroblastoma
    astrocytoma    myopathy    myotonic dystrophy    neuroblastoma
    prostatitis    hepatitis c    alzheimer's disease    prostate cancer

    3 diseases from the University of Copenhagen DISEASES database for BIN1:
    Centronuclear myopathy     Intracranial abscess     Alzheimer's disease

    BIN1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    9 Novoseek inferred disease relationships for BIN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 31.2 52 10738240 (5), 10449755 (4), 9242458 (4), 12789266 (3) (see all 24)
    neoplastic transformation 29.6 1 17218774 (1)
    prostate cancer 21.4 9 10738240 (2), 12789266 (1), 12085964 (1), 17477881 (1) (see all 6)
    astrocytoma 19.1 6 10412034 (6)
    breast cancer 13.5 16 15522178 (4), 17936981 (3), 17218774 (3), 10652430 (1) (see all 6)
    breast carcinoma 4.66 2 10652430 (1), 17218774 (1)
    cancer 1.93 17 17699764 (5), 17477881 (2), 12532338 (2), 19418541 (2) (see all 6)
    carcinoma 0 4 10652430 (1), 17218774 (1)
    melanoma 0 7 10449755 (6), 11032017 (1)

    Genetic Association Database (GAD): BIN1
    Human Genome Epidemiology (HuGE) Navigator: BIN1 (10 documents)

    Export disorders for BIN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BIN1 gene, integrated from 9 sources (see all 153):
    (articles sorted by number of sources associating them with BIN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. (PubMed id 17676042)1, 2, 3, 9 Nicot A.S....Laporte J. (2007)
    2. BIN1 is a novel Myc-interacting protein with features of a tumour suppressor. (PubMed id 8782822)1, 2, 3 Sakamuro D.... Prendergast G.C. (1996)
    3. A role for the putative tumor suppressor Bin1 in muscle cell differentiation. (PubMed id 9418903)1, 2, 9 Wechsler-Reya R.J.... Prendergast G.C. (1998)
    4. Structural analysis of the human BIN1 gene. Evidence for tissue- specific transcriptional regulation and alternate RNA splicing. (PubMed id 9395479)1, 2, 9 Wechsler-Reya R.J....Prendergast G.C. (1997)
    5. The SH3 binding motif of HCV NS5A protein interacts with Bin1 and is important for apoptosis and infectivity. (PubMed id 16530520)1, 2, 9 Nanda S.K.... Liang T.J. (2006)
    6. Multiple amphiphysin II splice variants display differential clathrin binding: identification of two distinct clathrin-binding sites. (PubMed id 9603201)1, 2, 9 Ramjaun A.R. and McPherson P.S. (1998)
    7. Identification and characterization of a nerve terminal-enriched amphiphysin isoform. (PubMed id 9195986)1, 2, 9 Ramjaun A.R.... McPherson P.S. (1997)
    8. cDNA cloning of a novel amphiphysin isoform and tissue-specific expression of its multiple splice variants. (PubMed id 9223448)1, 2, 9 Tsutsui K.... Tokunaga A. (1997)
    9. Genome-wide association study of Alzheimer's disease w ith psychotic symptoms. (PubMed id 22005930)1, 4 Hollingworth P....Williams J. (2012)
    10. The membrane-spanning 4-domains, subfamily A (MS4A) g ene cluster contains a common variant associated with Alzheimer's disease. (PubMed id 21627779)1, 4 AntA_nez C....Ruiz A. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 274 HGNC: 1052 AceView: BIN1 Ensembl:ENSG00000136717 euGenes: HUgn274
    ECgene: BIN1 H-InvDB: BIN1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BIN1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BIN1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BIN1 gene:
    Search GeneIP for patents involving BIN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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