BIN1 - bridging integrator 1 Gene

Homo sapiens

Also known as CNM2; AMPH2; AMPHL; SH3P9

Gene ID: 274 | Gene type: protein coding

About BIN1

Cytogenetic location: 2q14.3 Genomic coordinates (GRCh38): 2:127,048,023-127,107,154 (from NCBI)

This gene has 14 transcripts (splice variants), 265 orthologues, 3 paralogues and is associated with 4 phenotypes. Ubiquitous expression in brain (RPKM 31.3), kidney (RPKM 18.5) and 22 other tissues.

Summary

This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with Dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Mar 2016]

BIN1 Products(16)

mRNA	Protein	Name
NM_001320632.2	NP_001307561.1	myc box-dependent-interacting protein 1 isoform 13
NM_001320633.2	NP_001307562.1	myc box-dependent-interacting protein 1 isoform 14
NM_001320634.1	NP_001307563.1	myc box-dependent-interacting protein 1 isoform 16
NM_001320640.2	NP_001307569.1	myc box-dependent-interacting protein 1 isoform 11
NM_001320641.2	NP_001307570.1	myc box-dependent-interacting protein 1 isoform 12
NM_001320642.1	NP_001307571.1	myc box-dependent-interacting protein 1 isoform 15
NM_004305.4	NP_004296.1	myc box-dependent-interacting protein 1 isoform 8
NM_139343.3	NP_647593.1	myc box-dependent-interacting protein 1 isoform 1
NM_139344.3	NP_647594.1	myc box-dependent-interacting protein 1 isoform 2
NM_139345.3	NP_647595.1	myc box-dependent-interacting protein 1 isoform 3
NM_139346.3	NP_647596.1	myc box-dependent-interacting protein 1 isoform 4
NM_139347.3	NP_647597.1	myc box-dependent-interacting protein 1 isoform 5
NM_139348.3	NP_647598.1	myc box-dependent-interacting protein 1 isoform 6
NM_139349.3	NP_647599.1	myc box-dependent-interacting protein 1 isoform 7
NM_139350.3	NP_647600.1	myc box-dependent-interacting protein 1 isoform 9
NM_139351.3	NP_647601.1	myc box-dependent-interacting protein 1 isoform 10

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables RNA polymerase binding	IPI IPI: Inferred from physical interaction	16530520	GOA
enables actin filament binding	IDA IDA: Inferred from direct assay	26506308	GOA
enables aspartic-type endopeptidase inhibitor activity	IMP IMP: Inferred from mutant phenotype	27179792	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	23917616	GOA
enables lipid binding	EXP EXP: Inferred from Experiment	18658220	GOA
enables protease binding	IPI IPI: Inferred from physical interaction	27179792	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10903846	GOA
enables protein-folding chaperone binding	IPI IPI: Inferred from physical interaction	25051234	GOA
enables tau protein binding	IPI IPI: Inferred from physical interaction	23399914	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in T-tubule organization	IDA IDA: Inferred from direct assay	24755653	GOA
involved in endosome to lysosome transport	IMP IMP: Inferred from mutant phenotype	27179792	GOA
involved in lipid tube assembly	IDA IDA: Inferred from direct assay	18658220	GOA
involved in lipid tube assembly	IMP IMP: Inferred from mutant phenotype	19004523	GOA
involved in negative regulation of amyloid-beta formation	IMP IMP: Inferred from mutant phenotype	27179792	GOA
involved in negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process	IMP IMP: Inferred from mutant phenotype	27179792	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	10412034	GOA
involved in nucleus organization	IMP IMP: Inferred from mutant phenotype	26506308	GOA
involved in positive regulation of apoptotic process	IDA IDA: Inferred from direct assay	16530520	GOA
involved in positive regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	10412034	GOA
involved in positive regulation of astrocyte differentiation	IMP IMP: Inferred from mutant phenotype	10412034	GOA
involved in regulation of cell cycle process	IDA IDA: Inferred from direct assay	8782822	GOA
involved in regulation of neuron differentiation	IMP IMP: Inferred from mutant phenotype	10412034	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of RNA polymerase II transcription repressor complex	IPI IPI: Inferred from physical interaction	15992821	GOA
located in axon	IDA IDA: Inferred from direct assay	23399914	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	25051234	GOA
colocalizes with cytoskeleton	IDA IDA: Inferred from direct assay	25051234	GOA
part of lipid tube	IMP IMP: Inferred from mutant phenotype	19004523	GOA
located in membrane	IDA IDA: Inferred from direct assay	16530520	GOA
located in nucleus	IDA IDA: Inferred from direct assay	8782822	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BIN1 Protein Structure

BAR

SH3_9

0
100
200
300
400
500
593 a.a.

Protein Preferred Names

Protein Names

myc box-dependent-interacting protein 1

amphiphysin II

BIN1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	BIN1	O00499	RIN3	Homo sapiens	Q8TB24	Y2H	32552912
Intra	BIN1	O00499	RIN3	Homo sapiens	Q8TB24	Pull Down	12972505
Intra	BIN1	O00499	RIN3	Homo sapiens	Q8TB24	Anti Tag CoIP	35271311
Intra	BIN1	O00499	BIN2	Homo sapiens	Q9UBW5	Anti Bait CoIP	10903846
Intra	BIN1	O00499	REPS2	Homo sapiens	Q8NFH8	Pull Down	18647389
Intra	BIN1	O00499	REPS2	Homo sapiens	Q8NFH8	Peptide Array	18647389
Intra	BIN1	O00499	REPS2	Homo sapiens	Q8NFH8	Anti Tag CoIP	18647389
Intra	BIN1	O00499	AMPH	Homo sapiens	P49418	Anti Tag CoIP	35271311
Intra	BIN1	O00499	AMPH	Homo sapiens	P49418	Y2H Fragment Pooling	31413325
Intra	BIN1	O00499	FBP1	Homo sapiens	P09467	Filter Binding	16275660
Intra	BIN1	O00499	FBP1	Homo sapiens	P09467	Pull Down	16275660
Intra	BIN1	O00499	XRCC4	Homo sapiens	Q13426	Pull Down	16275660
Intra	BIN1	O00499	XRCC4	Homo sapiens	Q13426	Peptide Array	16275660
Intra	BIN1	O00499	XRCC4	Homo sapiens	Q13426	Filter Binding	16275660
Intra	BIN1	O00499	DLGAP4	Homo sapiens	Q9Y2H0	Pull Down	16275660
Intra	BIN1	O00499	DLGAP4	Homo sapiens	Q9Y2H0	Y2H	16275660
Intra	BIN1	O00499	SNX4	Homo sapiens	O95219	Y2H Fragment Pooling	31413325
Intra	BIN1	O00499	SNX4	Homo sapiens	O95219	Y2H	12668730
Intra	BIN1	O00499	Q9WMX2-PRO_0000037551	Hepatitis C virus	Q9WMX2-PRO_0000037551	Y2H Prey Pooling	18985028
Intra	BIN1	O00499	Q9WMX2-PRO_0000037551	Hepatitis C virus	Q9WMX2-PRO_0000037551	Pull Down	18985028
Cross	BIN1	O00499	P27958-PRO_0000037576	Hepatitis C virus	P27958-PRO_0000037576	Y2H	16530520
Cross	BIN1	O00499	P27958-PRO_0000037576	Hepatitis C virus	P27958-PRO_0000037576	Anti Bait CoIP	12604805
Cross	BIN1	O00499	P27958-PRO_0000037576	Hepatitis C virus	P27958-PRO_0000037576	Confocal	16530520
Cross	BIN1	O00499	P27958-PRO_0000037576	Hepatitis C virus	P27958-PRO_0000037576	Pull Down	16530520
Cross	BIN1	O00499	P27958-PRO_0000037576	Hepatitis C virus	P27958-PRO_0000037576	Anti Tag CoIP	12604805
Cross	BIN1	O00499	P27958-PRO_0000037576	Hepatitis C virus	P27958-PRO_0000037576	Confocal	12604805

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant BIN1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P74380	BIN1 Protein, Human (His)	O00499-10 (M1-P424)	≥95%

Related Diseases

Diseases

Alias

Myopathy, Centronuclear, 2

Myopathy, Centronuclear, Autosomal Recessive	Autosomal Recessive Centronuclear Myopathy
CNM2	Centronuclear Myopathy 2
Ar-Cnm	Myotubular Myopathy, Autosomal Recessive
Autosomal Recessive Myotubular Myopathy	Centronuclear Myopathy Autosomal Recessive
Myopathy, Centronuclear, Type 2

Myopathy, Centronuclear, 1

Autosomal Dominant Centronuclear Myopathy	CNM1
Centronuclear Myopathy 1	Ad-Cnm
Myopathy, Centronuclear, Autosomal Dominant	Myotubular Myopathy, Autosomal Dominant
Centronuclear Myopathy, Autosomal, Modifier Of	Autosomal Dominant Myotubular Myopathy
Dnm2-Related Centronuclear Myopathy	Centronuclear Myopathy Autosomal Dominant
Myopathies, Structural, Congenital	Myopathy, Centronuclear, Type 1

Centronuclear Myopathy

Myopathy, Centronuclear	Myotubular Myopathy
Cnm	Myopathy, Myotubular
Congenital Structural Myopathy

Myopathy

Muscular Diseases

Myopathies

Myopathy, Centronuclear, X-Linked

X-Linked Myotubular Myopathy	Xlmtm
X-Linked Centronuclear Myopathy	Xlcnm
CNMX	Mtm1
Myotubular Myopathy, X-Linked	Mtmx
Myotubular Myopathy 1	Centronuclear Myopathy X-Linked
Myotubular Myopathy	Mtm
Cnm	Xmtm
Myotubular Myopathy Type 1

Ptosis

Blepharoptosis	Drooping Eyelid
Droopy Eyelid	Ptosis Of Eyelid
Paralysis Of Levator Palpebrae Superioris

Alzheimer Disease 4

AD4	Alzheimer Disease-4
Alzheimer'S Disease 4	Alzheimer Disease, Familial, 4
Alzheimer Disease, Familial4	Alzheimer'S Disease 4, Early Onset
Alzheimer Disease, Type 4

Myotonic Disease

Myotonic Disorders	Myotonic Syndrome
Symptomatic Myotonia

Batten-Turner Congenital Myopathy

Congenital Myopathy	Batten Turner Congenital Myopathy
Myopathy Congenital	Myopathy, Congenital
Myotonia Congenita	Benign Congenital Myopathy

Mild Cognitive Impairment

Myotonic Dystrophy 1

Myotonic Dystrophy	Dystrophia Myotonica
Steinert Disease	Myotonic Dystrophy Type 1
Myotonia Atrophica	DM1
Congenital Myotonic Dystrophy	Myotonia Dystrophica
Steinert Myotonic Dystrophy	Dystrophia Myotonica 1
Dm	Steinert'S Disease
Steinert Myotonic Dystrophy Syndrome	Myotonic Dystrophy Of Steinert
Dystrophia Myotonica Type 1	Myotonic Dystrophy Congenital
Dystrophy, Myotonic, Type 1	Dm - [Dystrophia Myotonica]
Myotonic Muscular Dystrophy

Dementia, Lewy Body

Lewy Body Dementia	Lewy Body Disease
Diffuse Lewy Body Disease	Dementia With Lewy Bodies
DLB	Autosomal Dominant Diffuse Lewy Body Disease
Cortical Lewy Body Disease	Dementia, Lewy Body, Susceptibility To
Lewy Body Dementia, Susceptibility To	Senile Dementia Of The Lewy Body Type
Dementia Of The Lewy Body Type	Lbd
Diffuse Lewy Body Disease With Gaze Palsy	Dysphasic Dementia Hereditary
Lewy Body Type Senile Dementia	Lewy Body Variant Of Alzheimer Disease
Lewy Bodies	Lewy Body
Dlbd - [Diffuse Lewy Body Disease]	Clbd - [Cortical Lewy Body Disease]

Congenital Fiber-Type Disproportion

Congenital Fiber Type Disproportion	Cftdm
Congenital Myopathy With Fiber Type Disproportion	Cftd
Congenital Fiber-Type Disproportion Myopathy	Fiber-Type Disproportion Myopathy, Congenital
Myopathy, Congenital With Fiber-Type Disproportion

Prostate Cancer

Prostate Carcinoma	Prostate Cancer, Familial
Prostate Neoplasm	Prostate Cancer, Somatic
Prostate Cancer, Susceptibility To	Prostatic Cancer
Prostatic Neoplasms	Hereditary Prostate Cancer
Prostatic Neoplasm	Cancer Of Prostate
Carcinoma Of Prostate	Familial Prostate Cancer
Familial Prostate Carcinoma	Malignant Tumor Of Prostate
Malignant Neoplasm Of Prostate	Prostate Cancer, Familial, Susceptibility To
Malignant Tumor Of The Prostate	Ngp - New Growth Of Prostate
Tumor Of The Prostate	Prostate Cancer, Hereditary
Cancer Of The Prostate	Malignant Neoplasm Of The Prostate
Prostatic Carcinoma	PC
Prca	Cancer, Prostate
Malignant Prostatic Tumour	Malignant Tumour Of Prostate
Primary Prostate Cancer	Primary Malignant Neoplasm Of Prostate
Prostate Gland Cancer

Pick Disease Of Brain

Pick Disease	Pick'S Disease
Pick Disease Of The Brain	Lobar Atrophy Of Brain
Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions	Behavioral Variant Of Frontotemporal Dementia
Dementia In Pick'S Disease	Lobar Atrophy Of The Brain
Bvftd	Bv-Ftd
PIDB	Picks Disease

Congenital Myasthenic Syndrome

Congenital Myasthenia	Congenital Myasthenic Syndromes
Cms	Myasthenic Syndromes, Congenital
Myasthenic Syndromes Congenital	Myasthenic Syndrome, Congenital
Congenital Myasthenic Syndrome Ib	Congenital And Developmental Myasthenia
Developmental Myasthenia

Alzheimer Disease, Familial, 1

Alzheimer Disease	Alzheimer'S Disease
Presenile And Senile Dementia	AD1
Alzheimer Disease, Susceptibility To	Alzheimer Disease, Late-Onset, Susceptibility To
Alzheimer Disease 1, Familial	AD
Familial Alzheimer Disease	Alzheimer Disease, Late-Onset
Alzheimers Dementia	Alzheimer Dementia
Alzheimer Sclerosis	Alzheimer Syndrome
Alzheimer-Type Dementia	Dat
Primary Senile Degenerative Dementia	Sdat
Alzheimer Disease 1	Autosomal Dominant Alzheimer Disease
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy	Late Onset Alzheimer Disease
Alzheimers Disease	Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
Late-Onset Alzheimers Disease	Alzheimer'S Disease Pathway Kegg
Dementia Due To Alzheimer'S Disease	Alzheimer Disease Type 1
Alzheimers

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (14)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-10704	PTP1B-IN-1	Inhibitor	99.65%	Unkown
HY-139560	KDM2B-IN-1		99.19%	Unkown
HY-126246	CDC25B-IN-1	Inhibitor	98.09%	Unkown
HY-136556	Factor B-IN-1	Inhibitor	≥95.0%	Unkown
HY-162811	LAG-3 biner 1		/	Unkown
HY-117848	PDE8B-IN-1 hydrochloride	Inhibitor	/	Unkown
HY-135711	PDE8B-IN-1		/	Unkown
HY-142957	NaPi2b-IN-1		/	Unkown
HY-145695	Dual AChE-MAO B-IN-1	Inhibitor	/	Unkown
HY-147646	CDK1/Cyc B-IN-1		98.47%	Unkown
HY-147945	DNA gyrase B-IN-1	Inhibitor	/	Unkown
HY-163285	PDE3B-IN-1	Inhibitor	/	Unkown
HY-168185	α-glucosidase/PTP1B-IN-1	Inhibitor	/	Unkown
HY-RS01504	BIN1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	BIN1	VGNC	VGNC:60116
Macaca mulatta	BIN1	VGNC	VGNC:70251
Rattus norvegicus	BIN1	RGD	RGD:621786
Mus musculus	BIN1	MGD	MGI:108092
Bos taurus	BIN1	VGNC	VGNC:26497
Canis familiaris	BIN1	VGNC	VGNC:38458
Others	BIN1	NCBI

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