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 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; chr2:127805599-127864903 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human BIN1

Alleles and phenotypes

All alleles(3) : Targeted(2) Gene trapped(1)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (17 annotations)

Process	cell differentiation, endocytosis, ...
Component	axon terminus, cerebellar mossy fiber, ...
Function	GTPase binding, protein binding, ...

External Resources: FuncBase

Expression

Literature Summary: (10 records)
Data Summary: Results (167)    Tissues (82)    Images (42)
Theiler Stages: 13, 15, 16, 17, 19, 20, 23, 24, 26, 28

Assay Type	Results
Immunohistochemistry	6
RNA in situ	148
Northern blot	13

cDNA source data(163)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(166) Genomic(1) cDNA(165)
Microarray probesets(4)

Other database links

Ensembl Gene Model	ENSMUSG00000024381 (Evidence)
Entrez Gene	30948 (Evidence)
UniGene	4383
DFCI	TC1574390, TC1586385, TC1589677, TC1603999
DoTS	DT.40170940, DT.535779, DT.97372835
NIA Mouse Gene Index	U018524
Consensus CDS Project	CCDS29119.1, CCDS37755.1
International Mouse Knockout Project Status	Bin1

Sequences

Length	Strain/Species
genomic	ENSMUSG00000024381	Ensembl Gene Model | MGI Sequence Detail	58520	C57BL/6J
transcript	ENSMUST00000025239	Ensembl | MGI Sequence Detail	2451	Not Applicable
polypeptide	ENSMUSP00000025239	Ensembl | MGI Sequence Detail	588	Not Applicable

All sequences(35) RefSeq(4) UniProt(3)

Polymorphisms

RFLP(2) : SNPs(349 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR003005	Amphiphysin
InterPro	IPR003023	Amphiphysin, isoform 2
InterPro	IPR004148	BAR domain
InterPro	IPR001452	Src homology-3 domain
InterPro	IPR011511	Variant SH3
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:185743 Cotney J, et al., Chromatin state signatures associated with tissue-specific gene expression and enhancer activity in the embryonic limb. Genome Res. 2012 Jun;22(6):1069-80
All references(43)

Other accession IDs

MGD-MRK-37129, MGI:700008