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Bin1
Gene Detail
 Symbol
Name
ID
Bin1
bridging integrator 1
MGI:108092
Synonyms Amphiphysin 2, Amphl
Feature Type protein coding gene
Genetic Map
Chromosome 18
18.01 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr18:32377217-32435736 bp, + strand
From Ensembl annotation of GRCm38

  58520 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:113707  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Bin1

Human
homologs
Human Homolog BIN1, bridging integrator 1
NCBI Gene ID 274
neXtProt AC  NX_O00499
Human Synonyms  AMPH2, AMPHL, SH3P9
Human Chr (Location)  2q14; chr2:127048023-127107327 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human BIN1
Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Gene trapped(1) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutation of this gene results in thickened ventricular walls, densely packed myocardiocytes, and disorganization of myofibrils. Mutant animals die shortly after birth.
 
Human Diseases Modeled Using Mouse Bin1 (1)    Alleles Annotated to Human Diseases(2)   
Interactions
Bin1 interacts with 81 markers (Mir7-1, Mir9-1, Mir9-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (33 annotations)
Process cell differentiation, endocytosis, ...
Component axon, axon initial segment, ...
Function GTPase binding, identical protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (10 records)
Data Summary: Results (167)    Tissues (83)    Images (42)
Theiler Stages: 13, 15, 16, 17, 19, 20, 23, 24, 26, 27, 28
Assay TypeResults
Immunohistochemistry 6
RNA in situ 148
Northern blot 13
cDNA source data(161)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(164) Genomic(1) cDNA(163)
Microarray probesets(4)
Other database
links
Ensembl Gene ModelENSMUSG00000024381 (Evidence)
Entrez Gene30948 (Evidence)
UniGene4383
DFCITC1574390, TC1586385, TC1589677, TC1603999
DoTSDT.40170940, DT.535779, DT.97372835
NIA Mouse Gene IndexU018524
Consensus CDS ProjectCCDS29119.1, CCDS37755.1
International Mouse Knockout Project StatusBin1
Sequences
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 sequences
All sequences(71) RefSeq(40) UniProt(3)
Polymorphisms RFLP(2) : SNPs within 2kb(498 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003005 Amphiphysin
InterPro IPR003023 Amphiphysin, isoform 2
InterPro IPR027267 Arfaptin homology (AH) domain/BAR domain
InterPro IPR004148 BAR domain
InterPro IPR001452 Src homology-3 domain
Protein Ontology PR:000004748 myc box-dependent-interacting protein 1
References (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:203880 Royer B, et al., The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathies. EMBO Rep. 2013 Oct;14(10):907-15
All references(45)
Other
accession IDs
MGD-MRK-37129, MGI:700008

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/16/2014
MGI 5.19
The Jackson Laboratory