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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
  • Alliance
    gene page
  • Transcription Start Sites
    14 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:32510283-32568790 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 18.01 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    498 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_108092
 protein coding gene Chr18:32509671-32568793 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BIN1, bridging integrator 1
  • Synonyms
    AMPH2, AMPHL, CNM2, SH3P9
  • Links
    NCBI Gene ID: 274
    neXtProt AC: NX_O00499
    UniProt: O00499

  • Chr Location
    2q14.3; chr2:127048023-127107288 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with human BIN1 associations

Human Disease Mouse Models
      
IDs
IDs
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
    23 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
    97
  • GO References
    17
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
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
    886
  • Tissues
    92
  • cDNA Data
    162
  • Literature Summary
    15
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024381 Ensembl Gene Model | MGI Sequence Detail 58508 C57BL/6J ±  kb
    transcript ENSMUST00000025239 Ensembl | MGI Sequence Detail 2406 Not Applicable  
    polypeptide ENSMUSP00000025239 Ensembl | MGI Sequence Detail 588 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 167
      Genomic 1
      cDNA 164
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-37129, MGI:700008
    References
    more
    • Summaries
      All 82
      Developmental Gene Expression 15
      Diseases 1
      Gene Ontology 17
      Phenotypes 23
    • 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:344474 Zhang X, et al., Bridging integrator 1 fragment accelerates tau aggregation and propagation by enhancing clathrin-mediated endocytosis in mice. PLoS Biol. 2024 Jan;22(1):e3002470
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory