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Bin1 Gene Detail
Summary
  • Symbol
    Bin1
  • Name
    bridging integrator 1
  • Synonyms
    Amphiphysin 2, Amphl
  • Feature Type
    protein coding gene
  • IDs
    MGI:108092
    NCBI Gene: 30948
  • Gene Overview
    MyGene.info: BIN1
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:32377217-32435736 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 18.01 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    500 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_108092
protein coding gene Chr18:32377198-32435740 (.)
129S1/SvImJ MGP_129S1SvImJ_G0024227
protein coding gene Chr18:30520314-30583795 (+)
A/J MGP_AJ_G0024193
protein coding gene Chr18:29501598-29559992 (+)
AKR/J MGP_AKRJ_G0024162
protein coding gene Chr18:30329695-30388222 (+)
BALB/cJ MGP_BALBcJ_G0024193
protein coding gene Chr18:29597030-29655858 (+)
C3H/HeJ MGP_C3HHeJ_G0023961
protein coding gene Chr18:30365839-30425019 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024635
protein coding gene Chr18:31616282-31675369 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022076
protein coding gene Chr18:29732460-29791259 (+)
CAST/EiJ MGP_CASTEiJ_G0023436
protein coding gene Chr18:30262344-30323881 (+)
CBA/J MGP_CBAJ_G0023929
protein coding gene Chr18:32570591-32642255 (+)
DBA/2J MGP_DBA2J_G0024061
protein coding gene Chr18:29172348-29231165 (+)
FVB/NJ MGP_FVBNJ_G0024027
protein coding gene Chr18:28884576-28944425 (+)
LP/J MGP_LPJ_G0024142
protein coding gene Chr18:30600837-30660308 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024055
protein coding gene Chr18:33902272-33963593 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024683
protein coding gene Chr18:30182108-30242445 (+)
PWK/PhJ MGP_PWKPhJ_G0023179
protein coding gene Chr18:29348073-29420417 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022988
protein coding gene Chr18:30437652-30497021 (+)
WSB/EiJ MGP_WSBEiJ_G0023499
protein coding gene Chr18:30094050-30153734 (+)



Homology
more
  • Human Ortholog
    BIN1, bridging integrator 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    BIN1, bridging integrator 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AMPH2, AMPHL, CNM2, SH3P9
  • Links
    NCBI Gene ID: 274
    neXtProt AC: NX_O00499
    UniProt: O00499

  • Chr Location
    2q14.3; chr2:127048023-127107400 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human BIN1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    17 phenotypes from 2 alleles in 2 genetic backgrounds
    6 phenotypes from multigenic genotypes
    7 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous mutation of this gene results in thickened ventricular walls, densely packed myocardiocytes, and disorganization of myofibrils. Mutant animals die shortly after birth.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024381 Ensembl Gene Model | MGI Sequence Detail 58520 C57BL/6J ±  kb
    transcript ENSMUST00000025239 Ensembl | MGI Sequence Detail 2451 Not Applicable  
    polypeptide ENSMUSP00000025239 Ensembl | MGI Sequence Detail 588 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 165
      Genomic 1
      cDNA 164

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-37129, MGI:700008
    References
    more
    • Summaries
      All 55
      Developmental Gene Expression 11
      Diseases 1
      Gene Ontology 14
      Phenotypes 7
    • Earliest
      J:35155 Sakamuro D, et al., BIN1 is a novel MYC-interacting protein with features of a tumour suppressor [see comments]. Nat Genet. 1996 Sep;14(1):69-77
    • Latest
      J:247214 Xu B, et al., The ESCRT-III pathway facilitates cardiomyocyte release of cBIN1-containing microparticles. PLoS Biol. 2017 Aug;15(8):e2002354

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory