BIN1 - bridging integrator 1 Gene

Also Known as CNM2; AMPH2; AMPHL; SH3P9

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 274

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	Verweise	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	Verweise	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	Verweise	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
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

Art. -Nr.	Produktname	Accession	Reinheit
HY-P74380	BIN1 Protein, Human (His)	O00499-10 (M1-P424)	≥ 85%, as determined by reducing SDS-PAGE.

BIN1 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P82530	BIN1 Antibody (YA2275)	WB, IHC-F, IHC-P, ICC/IF	Human, Mouse, Rat
HY-P82530A	BIN1 Antibody (YA2275)(PBS only)	WB, IHC-F, IHC-P, ICC/IF	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (23)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-139561	KDM2B-IN-2		99.36%	Unkown
HY-10704	PTP1B-IN-1	Inhibitor	99.71%	Unkown
HY-139560	KDM2B-IN-1	Inhibitor	99.49%	Unkown
HY-126246	CDC25B-IN-1	Inhibitor	98.12%	Unkown
HY-163285	PDE3B-IN-1	Inhibitor	99.60%	Unkown
HY-135711	PDE8B-IN-1		99.91%	Unkown
HY-147646	CDK1/Cyc B-IN-1		98.47%	Unkown
HY-136556	Factor B-IN-1	Inhibitor	/	Unkown
HY-162811	LAG-3 biner 1		97.08%	Unkown
HY-117848	PDE8B-IN-1 hydrochloride	Inhibitor	/	Unkown
HY-142957	NaPi2b-IN-1	Inhibitor	/	Unkown
HY-145695	Dual AChE-MAO B-IN-1	Inhibitor	/	Unkown
HY-147945	DNA gyrase B-IN-1	Inhibitor	/	Unkown
HY-168185	α-glucosidase/PTP1B-IN-1	Inhibitor	/	Unkown
HY-176762	TOP3B-IN-1	Inhibitor	/	Unkown
HY-179109	EIF2B-IN-1	Inhibitor	/	Unkown
HY-182008	NEURL1B-IN-1		/	Unkown
HY-RS01504	BIN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-170412	Cox B-IN-1	Inhibitor	/	Unkown
HY-170810	E.coli Gyrase B-IN-1	Inhibitor	/	Unkown
HY-181715	PBP1b-IN-1	Inhibitor	/	Unkown
HY-RS18913	Bin1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25404	Bin1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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