About   Help   FAQ
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
Location & Maps
more
  • Sequence Map
    Chr18:32377217-32435736 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      58520 bp   ±  kb flank

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

  • Chr Location
    2q14; chr2:127048023-127107400 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human BIN1 associations

Human Disease Mouse Models
       Myopathy, Centronuclear, 2; CNM2   OMIM: 255200
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
    16 phenotypes from 2 alleles in 2 genetic backgrounds
    6 phenotypes from multigenic genotypes
    5 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    3
  • Gene trapped
    1
  • Targeted
    2
  • Incidental Mutations
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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
Polymorphisms
less
  • SNPs within 2kb
    500 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 164
    Genomic 1
    cDNA 163

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-37129, MGI:700008
References
more
  • Summaries
    All 43
    Developmental Gene Expression 11
    Diseases 1
    Gene Ontology 8
    Phenotypes 5
  • 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:213224 Hong T, et al., Cardiac BIN1 folds T-tubule membrane, controlling ion flux and limiting arrhythmia. Nat Med. 2014 Jun;20(6):624-32

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/17/2016
MGI 6.03
The Jackson Laboratory