Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

BIN1 Gene

protein-coding GIFtS: 66
GCID: GC02M127898

bridging integrator 1

(Previous symbol: AMPHL)

Explore 29 diseases affiliated with
BIN1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Bridging Integrator 1¹ ² ³		Amphiphysin-Like Protein² ³
AMPHL¹ ² ³ ⁵		Box-Dependent Myc-Interacting Protein 1² ³
AMPH2¹ ²		Box Dependant MYC Interacting Protein 1²
SH3P9¹ ²		Myc Box-Dependent-Interacting Protein 1²
Amphiphysin II² ³

External Ids:	HGNC: 1052¹	Entrez Gene: 274²	Ensembl: ENSG00000136717⁷	OMIM: 601248⁵	UniProtKB: O00499³

Export aliases for BIN1 gene to outside databases

Previous GC identifers: GC02M125104 GC02M125732 GC02M127710 GC02M127521 GC02M120113

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BIN1:

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 ten transcript variants encoding different

isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. (provided by RefSeq, Sep

2011)

UniProtKB/Swiss-Prot: BIN1_HUMAN, O00499

Function: May be involved in regulation of synaptic vesicle endocytosis. May act as a tumor suppressor and inhibits

malignant cell transformation

Gene Wiki entry for BIN1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_022135.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the BIN1 gene promoter:
NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): BIN1 promoter sequence

Search SABiosciences Chromatin IP Primers for BIN1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BIN1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q14 Ensembl cytogenetic band: 2q14.3 HGNC cytogenetic band: 2q14

BIN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BIN1 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M127898: view genomic region (about GC identifiers)

Start:	127,805,603 bp from pter	End:	127,864,931 bp from pter
Size:	59,329 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: BIN1_HUMAN, O00499 (See protein sequence)

Recommended Name: Myc box-dependent-interacting protein 1

Size: 593 amino acids; 64699 Da

Subunit: Heterodimer with AMPH. Binds SH3GLB1 (By similarity). Interacts (via SH3 domain) with SYNJ1. Interacts (via

SH3 domain) with DNM1. Isoform IIA interacts with CLTC. Isoform IIB does not interact with CLTC. Isoform IIC1 does not

interact with CLTC. Isoform IIC2 does not interact with CLTC. Interacts with AP2A2. Interacts with AP2B1. Interacts

with MYC (via N-terminal transactivation domain); the interaction requires the integrity of the conserved MYC box

regions 1 and 2. Interacts with BIN2. Interacts (SH3 domain) with HCV NS5A

Subcellular location: Isoform BIN1: Nucleus

Subcellular location: Isoform IIA: Cytoplasm

Sequence caution: Sequence=AAC23441.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

6 PDB 3D structures from and Proteopedia for BIN1:

1MUZ (3D)

1MV0 (3D)

1MV3 (3D)

2FIC (3D)

2RMY (3D)

2RND (3D)

Secondary accessions: O00297 O00545 O43867 O60552 O60553 O60554 O60555 O75514 O75515 O75516 O75517

O75518 Q659B7 Q92944 Q99688

Alternative splicing: 11 isoforms: O00499-1 O00499-2 O00499-3 O00499-4 O00499-5 O00499-6 O00499-7 O00499-8

O00499-9 O00499-10 O00499-11

Explore the universe of human proteins at neXtProt for BIN1: NX_O00499

Post-translational modifications:

Phosphorylated by protein kinase C (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O00499

BIN1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (10 alternative transcripts):

NP_004296.1 NP_647593.1 NP_647594.1 NP_647595.1 NP_647596.1 NP_647597.1 NP_647598.1 NP_647599.1

NP_647600.1 NP_647601.1

ENSEMBL proteins:

ENSP00000365281 ENSP00000350654 ENSP00000376760 ENSP00000259237 ENSP00000259238

ENSP00000315411 ENSP00000376761 ENSP00000315388 ENSP00000315284 ENSP00000316779

ENSP00000386797

Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Proteins (see all 2): BIN1 OriGene Protein Over-expression Lysate (see all 4): BIN1 OriGene Custom Protein Services for BIN1
	GenScript Custom Purified and Recombinant Proteins Services for BIN1
	Novus Biologicals BIN1 Proteins Novus Biologicals BIN1 Lysates
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for BIN1
	Uscn Proteins for BIN1

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005737	cytoplasm	IDA	--
GO:0008021	synaptic vesicle	IEA	--
GO:0015629	actin cytoskeleton	TAS	9182667
GO:0043196	varicosity	IEA	--

BIN1 for ontologies About GeneDecksing

BIN1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of BIN1
	Browse R&D Systems for Antibodies
	OriGene Antibodies: BIN1 OriGene Custom Antibody Services for BIN1
	GenScript Superior Antibodies for BIN1
	Novus Biologicals BIN1 Antibodies
	Abcam antibodies for BIN1
	Uscn Antibodies for BIN1
	ThermoFisher Antibodies for BIN1

Assay Products for BIN1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for BIN1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for BIN1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

BIN1 for domains About GeneDecksing

5 InterPro domains/families:

IPR011511 SH3_2

IPR003023 Amphiphysin_2

IPR001452 SH3_domain

IPR004148 BAR_dom

IPR003005 Amphiphysin

Graphical View of Domain Structure for InterPro Entry O00499

ProtoNet protein and cluster: O00499

3 Blocks protein families:

IPB001452 SH3 domain signature

IPB003005 Amphiphysin signature

IPB003023 Amphiphysin isoform 2 signature

UniProtKB/Swiss-Prot: BIN1_HUMAN, O00499

Similarity: Contains 1 BAR domain

Similarity: Contains 1 SH3 domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: BIN1_HUMAN, O00499

Function: May be involved in regulation of synaptic vesicle endocytosis. May act as a tumor suppressor and inhibits

malignant cell transformation

miRNA Products:		OriGene 3'-UTR Clone (see all 10): BIN1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BIN1
		8 QIAGEN miScript miRNA Assays for microRNAs that regulate BIN1:
		hsa-miR-22 hsa-miR-607 hsa-miR-1305 hsa-miR-646 hsa-miR-211 hsa-miR-204 hsa-miR-2116 hsa-miR-296-5p

		SwitchGear 3'UTR luciferase reporter plasmid: BIN1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BIN1 (see all 7) OriGene shRNA RFP: BIN1 OriGene siRNA: BIN1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BIN1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for BIN1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BIN1 (see all 13) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BIN1 (see all 11) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 10): BIN1 (NM_004305)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for BIN1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BIN1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for BIN1
		Search LifeMap BioReagents cell lines for BIN1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BIN1

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	16275660
GO:0019904	protein domain specific binding	IEA	--
GO:0032403	protein complex binding	IEA	--
GO:0046982	protein heterodimerization activity	IEA	--
GO:0051020	GTPase binding	IEA	--

BIN1 for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for BIN1:

Enable proliferation in B-Raf

Increased S DNA content

Increased cell death in breast

Animal Models:
Mouse knock-out Bin1^tm1Gcp for BIN1
10 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Bin1):

behavior/neurological	cardiovascular system	cellular	endocrine/exocrine gland	homeostasis/metabolism
immune system	integument	mortality/aging	muscle	tumorigenesis

BIN1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Clathrin-dependent protein traffic

	Clathrin-dependent protein traffic	1.00			wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)	0.35
	Transport_Clathrin-coated vesicle cycle	0.66

Arf6 trafficking events

Arf6 trafficking events

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for BIN1

Clathrin-dependent protein traffic

2 GeneGo (Thomson Reuters) Pathways for BIN1

	wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
	Transport Clathrin-coated vesicle cycle

1 BioSystems Pathway for BIN1

Arf6 trafficking events

BIN1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for BIN1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/55 Interacting proteins for BIN1 (O00499^{1, 2, 3} ENSP00000316779⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 55)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MYC	P01106²^,³, ENSP00000367207⁴	MINT-7306785 MINT-7306800 MINT-7306848 MINT-7306839 MINT-7306820 I2D: score=3 STRING: ENSP00000367207
SNX4	O95219²^,³, ENSP00000251775⁴	MINT-58437 MINT-58440 MINT-58438 MINT-58439 I2D: score=4 STRING: ENSP00000251775
RIN3	Q8TB24²^,³, ENSP00000216487⁴	MINT-58368 MINT-62883 MINT-58365 MINT-58369 I2D: score=3 STRING: ENSP00000216487
DLGAP4	Q9Y2H0¹^,³, ENSP00000363023⁴	EBI-1965383,EBI-722139 I2D: score=2 STRING: ENSP00000363023
REPS2	Q8NFH8², ENSP00000349824⁴	MINT-7027462 MINT-7027569 MINT-7027512 MINT-7027708 MINT-7027613 MINT-7027653 STRING: ENSP00000349824

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006897	endocytosis	IEA	--
GO:0007275	multicellular organismal development	IEA	--
GO:0008283	cell proliferation	TAS	8782822
GO:0019048	virus-host interaction	IEA	--
GO:0042692	muscle cell differentiation	IEA	--

BIN1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

BIN1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for BIN1
1 Novoseek chemical compound relationship for BIN1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
estrogen	0	3	10652430 (1), 15562774 (1), 15522178 (1)

Search CenterWatch for drugs/clinical trials and news about BIN1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for BIN1 gene (10 alternative transcripts):

NM_004305.3 NM_139343.2 NM_139344.2 NM_139345.2 NM_139346.2 NM_139347.2 NM_139348.2 NM_139349.2

NM_139350.2 NM_139351.2

Unigene Cluster for BIN1:

Bridging integrator 1

Hs.193163 [show with all ESTs]

Unigene Representative Sequence: NM_139343

14 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000376113(uc010yzf.2) ENST00000357970 ENST00000393040 ENST00000348750

ENST00000259238(uc002tnw.2) ENST00000346226 ENST00000393041 ENST00000351659

ENST00000352848(uc002tnu.2 uc002tnx.2) ENST00000316724(uc002tns.2 uc002tnt.2 uc010yzg.2 uc002tnv.2 uc002tny.2 uc002tnz.2 uc002toa.2 uc002tob.2 uc002toc.2)

ENST00000462958 ENST00000409400 ENST00000466111 ENST00000484253

miRNA Products:		OriGene 3'-UTR Clone (see all 10): BIN1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BIN1
		8 QIAGEN miScript miRNA Assays for microRNAs that regulate BIN1:
		hsa-miR-22 hsa-miR-607 hsa-miR-1305 hsa-miR-646 hsa-miR-211 hsa-miR-204 hsa-miR-2116 hsa-miR-296-5p

		SwitchGear 3'UTR luciferase reporter plasmid: BIN1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BIN1 (see all 7) OriGene shRNA RFP: BIN1 OriGene siRNA: BIN1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BIN1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BIN1 (see all 13) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BIN1 (see all 11) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 10): BIN1 (NM_004305)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for BIN1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BIN1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BIN1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat BIN1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BIN1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BIN1

Additional cDNA sequence:

AF001383.1 AF004015.1 AF043898.1 AF043899.1 AF043900.1 AF043901.1 AF068914.1 AF068915.1

AF068916.1 AF068917.1 AF068918.1 AF070576.1 AK295300.1 AK301153.1 AL713697.1 BC004101.2

BT006865.1 U68485.1 U87558.1

24/28 DOTS entries (see all 28):

DT.100828587 DT.100828595 DT.40107021 DT.100030756 DT.120963180 DT.100030754 DT.100828596 DT.100030762

DT.92450248 DT.100828594 DT.92450234 DT.100828605 DT.40107022 DT.87017046 DT.40124099 DT.40296784

DT.95378446 DT.100828597 DT.100828607 DT.120963172 DT.217663 DT.100828598 DT.75141741 DT.92450238

24/433 AceView cDNA sequences (see all 433):

BM705180 BQ670194 AI201739 BQ083376 BM701895 BQ674515 NM_139348 AF043898

AF043899 AI248695 BM822430 BG152520 BQ027120 NM_139351 AI282059 BQ053122

BQ892332 F29130 BM699368 BM769826 AF043900 AI282005 BQ674204 BQ723721

GeneLoc Exon Structure

5/16 Alternative Splicing Database (ASD) splice patterns (SP) for BIN1 (see all 16) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20a	·	20b	·	20c	^
SP1:											-														-								-														-		-
SP2:											-														-								-				-										-		-
SP3:											-												-		-														-		-		-				-		-
SP4:											-														-								-				-		-		-						-		-
SP5:											-												-		-								-						-		-						-		-

ExUns:	21a	·	21b	^	22a	·	22b
SP1:			-
SP2:			-
SP3:			-
SP4:			-
SP5:			-

ECgene alternative splicing isoforms for BIN1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

BIN1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTTGCCTGAA

About this image

BIN1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

5 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Limb

Stylopod Synovial Joint

Interzone Cells

Cartilage

Limb

Zeugopod

Mesenchymal Condensate Cells

Bone, Cartilage

Limb

Autopod

Limb

Stylopod Synovial Joint

Limb

Zeugopod

Limb

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See BIN1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BIN1

SOURCE GeneReport for Unigene cluster: Hs.193163

UniProtKB/Swiss-Prot: BIN1_HUMAN, O00499

Tissue specificity: Ubiquitous. Highest expression in the brain and muscle. Isoform IIA is expressed only in the brain

where it is concentrated in axon initial segments and nodes of Ranvier. Isoform BIN1 is widely expressed with highest

expression in skeletal muscle

SABiosciences Custom PCR Arrays for BIN1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BIN1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat BIN1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BIN1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BIN1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BIN1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for BIN1 gene from 6/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	BIN1⁶	bridging integrator 1	83(a)	1 ↔ 1	7(25228473-25468587)
lizard (Anolis carolinensis)	Reptilia	BIN1⁶	--	57(a)	1 ↔ 1	GL343344.1(569850-651914)
African clawed frog (Xenopus laevis)	Amphibia	bin1-prov²	bridging integrator 1	80.23(n)		BC046852.1
zebrafish (Danio rerio)	Actinopterygii	LOC563561¹	myc box-dependent-interacting protein 1-like	64.47(n) 60.93(a)		563561 XM_001921399.3 XP_001921434.3
fruit fly (Drosophila melanogaster)	Insecta	Amph^{1 , 3}	NOT synaptic vesicle endocytosis³ Amphiphysin¹	41(a)³ 48.01(n)¹ 36.83(a)¹		36383¹ NM_078993.2¹ NP_523717.1¹
worm (Caenorhabditis elegans)	Secernentea	F58G6.1³ amph-1¹	amphiphysin like³ Protein AMPH-1¹	32(a)³ 42.46(n)¹ 30.91(a)¹		IV(9644867-9647871)³ 177797¹ NM_069310.2¹ NP_501711.1¹

ENSEMBL Gene Tree for BIN1 (if available)
TreeFam Gene Tree for BIN1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for BIN1 gene

AMPH² BIN2²

2 SIMAP similar genes for BIN1 using alignment to 2 protein entries: BIN1_HUMAN (see all proteins):

AMPH BIN2

BIN1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs77059199^1,2	F,	--	120113346(+)	`ACACAC/TGTTTT`	10	--	ut3¹		1		NA	120
rs201609822^1,2	C	--	120113378(-)	`TGAAAA/CAAAAA`	10	--	ut3¹		0	--	--	--	--
rs762742^1,2	C,H	--	120113503(-)	`CCGGGC/GAAGGG`	10	--	ut3¹		4		NS EA	414
rs762741^1,2	C,H	--	120113513(-)	`GCCGCG/ACCACC`	10	--	ut3¹ ese³		5		NS EA NA	418
rs762740^1,2	H	--	120113694(-)	`CAAAGA/TTTAGG`	10	--	ut3¹		5		MN NS EA	594
rs111649895^1,2	C,	--	120113765(+)	`AAAACA/G/TAAAAC`	20	--	ut3¹		3		CSA WA EA	240
rs75305666^1,2	F,	--	120115279(+)	`CGCCTC/TGAGGG`	10	--	int¹		1		WA	118
rs72846605^1,2	C,	--	120115513(+)	`GTATGA/GGGACA`	10	--	int¹		0	--	--	--	--
rs12466852^1,2	C,H,	--	120115599(+)	`GAGGGC/TGGGGA`	10	--	int¹		0	--	--	--	--
rs78068615^1,2	C,	--	120116118(+)	`GTGGGC/GTCACC`	10	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for BIN1 (127805603 - 127864931 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for BIN1
4 CNVs: 31002 50274 3391 50275
Human Gene Mutation Database (HGMD): BIN1

Locus Specific Mutation Databases (LSDB): BIN1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BIN1

DNA2.0 Custom Variant and Variant Library Synthesis for BIN1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

BIN1 for disorders           About GeneDecksing

OMIM gene information: 601248
OMIM disorders: 255200
UniProtKB/Swiss-Prot: BIN1_HUMAN, O00499

Defects in BIN1 are the cause of centronuclear myopathy type 2 (CNM2) [MIM:255200]. A congenital muscle

disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck

muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become

evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic

features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial

arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers

20/29 diseases for BIN1 (see all 29): About MalaCards

wound botulism orbital cellulitis central neurocytoma intracranial abscess

botulism centronuclear myopathy cellulitis differentiating neuroblastoma

myotonic dystrophy myopathy diffuse astrocytoma muscle disorders

astrocytoma ptosis hepatitis c breast carcinoma

prostate cancer breast cancer alzheimer's disease neuroblastoma

3 diseases from the University of Copenhagen DISEASES database for BIN1:

Centronuclear myopathy Intracranial abscess Alzheimer's disease

9 Novoseek disease relationships for BIN1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tumors	31.2	52	10738240 (5), 10449755 (4), 9242458 (4), 12789266 (3) (see all 24)
neoplastic transformation	29.6	1	17218774 (1)
prostate cancer	21.4	9	10738240 (2), 12789266 (1), 12085964 (1), 17477881 (1) (see all 6)
astrocytoma	19.1	6	10412034 (6)
breast cancer	13.5	16	15522178 (4), 17936981 (3), 17218774 (3), 10652430 (1) (see all 6)
breast carcinoma	4.66	2	10652430 (1), 17218774 (1)
cancer	1.93	17	17699764 (5), 17477881 (2), 12532338 (2), 19418541 (2) (see all 6)
carcinoma	0	4	10652430 (1), 17218774 (1)
melanoma	0	7	10449755 (6), 11032017 (1)

Human Genome Epidemiology (HuGE) Navigator: BIN1 (10 documents)

Export disorders for BIN1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for BIN1 gene, integrated from 9 sources (see all 147):
(articles sorted by number of sources associating them with BIN1)

Utopia: connect your pdf to the dynamic
world of online information

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. (PubMed id 17676042)^{1, 2, 3, 9} Nicot A.S....Laporte J. (2007)
BIN1 is a novel Myc-interacting protein with features of a tumour suppressor. (PubMed id 8782822)^{1, 2, 3} Sakamuro D.... Prendergast G.C. (1996)
A role for the putative tumor suppressor Bin1 in muscle cell differentiation. (PubMed id 9418903)^{1, 2, 9} Wechsler-Reya R.J.... Prendergast G.C. (1998)
Structural analysis of the human BIN1 gene. Evidence for tissue- specific transcriptional regulation and alternate RNA splicing. (PubMed id 9395479)^{1, 2, 9} Wechsler-Reya R.J....Prendergast G.C. (1997)
The SH3 binding motif of HCV NS5A protein interacts with Bin1 and is important for apoptosis and infectivity. (PubMed id 16530520)^{1, 2, 9} Nanda S.K.... Liang T.J. (2006)
Multiple amphiphysin II splice variants display differential clathrin binding: identification of two distinct clathrin-binding sites. (PubMed id 9603201)^{1, 2, 9} Ramjaun A.R. and McPherson P.S. (1998)
Identification and characterization of a nerve terminal-enriched amphiphysin isoform. (PubMed id 9195986)^{1, 2, 9} Ramjaun A.R.... McPherson P.S. (1997)
cDNA cloning of a novel amphiphysin isoform and tissue-specific expression of its multiple splice variants. (PubMed id 9223448)^{1, 2, 9} Tsutsui K.... Tokunaga A. (1997)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)
Bin2, a functionally nonredundant member of the BAR adaptor gene family. (PubMed id 10903846)^{1, 2} Ge K. and Prendergast G.C. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 274	HGNC: 1052	AceView: BIN1	Ensembl:ENSG00000136717	euGenes: HUgn274
ECgene: BIN1	H-InvDB: BIN1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for BIN1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for BIN1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for BIN1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for BIN1 gene:
Search GeneIP for patents involving BIN1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section

	Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
	Browse Small Molecules at EMD Millipore
	Browse Kits and Assays available from EMD Millipore
	EMD Millipore Mono- and Polyclonal Antibodies for the study of BIN1
	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse for Gene Knock-down Tools from EMD Millipore

	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	OriGene Antibodies for BIN1		OriGene shRNA RFP for BIN1
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BIN1		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BIN1
	OriGene Protein Over-expression Lysate for BIN1		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for BIN1		OriGene 3'-UTR Clone for BIN1
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BIN1		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BIN1
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	OriGene Purified Protein for BIN1		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for BIN1		OriGene Custom Protein Services for BIN1
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat BIN1
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BIN1
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BIN1
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BIN1
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BIN1
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BIN1

	GenScript Custom Purified and Recombinant Proteins Services for BIN1		GenScript cDNA clones with any tag delivered in your preferred vector for BIN1
	GenScript Custom Assay Services for BIN1		GenScript Superior Antibodies for BIN1
	GenScript Custom overexpressing Cell Line Services for BIN1		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in BIN1 promoter
	Search Chromatin IP Primers for BIN1
	RT² qPCR Primer Assay in human, mouse, rat BIN1
	GNC Network for BIN1
	SABiosciences Custom PCR Arrays for BIN1

Search Tocris compounds for BIN1

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	BIN1 antibodies
	BIN1 proteins
	BIN1 lysates

	Antibodies for BIN1
	See all of Abcam's Antibodies, Kits and Proteins for BIN1
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Recombinant Protein for BIN1

BIN1 Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for BIN1

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BIN1

	SwitchGear 3'UTR luciferase reporter plasmids for BIN1
	SwitchGear Promoter luciferase reporter plasmids for BIN1

ThermoFisher Antibodies for BIN1

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BIN1

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes BIN1 gene at Home site.

hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4

Advanced Search

Export list of displayed genes

BIN1 Gene

bridging integrator 1

Aliases
for BIN1 gene

Summaries
for BIN1 gene

Genomic Views
for BIN1 gene

Proteins
for BIN1 gene

Protein Domains /
Families
for BIN1 gene

Function
for BIN1 gene

Pathways & Interactions
for BIN1 gene

Drugs & Compounds
for BIN1 gene

Transcripts
for BIN1 gene

Expression
for BIN1 gene

Orthologs
for BIN1 gene

Paralogs
for BIN1 gene

Genomic Variants
for BIN1 gene

Disorders / Diseases
for BIN1 gene

Publications
for BIN1 gene

External Searches for BIN1 gene

Genome Databases showing BIN1 gene

Other Databases showing BIN1 gene

Specialized Databases showing BIN1 gene

Intellectual Property
for BIN1 gene

Products
for BIN1 gene

View Random Gene

Advanced Search

Export list of displayed genes

BIN1 Gene

bridging integrator 1

Aliasesfor BIN1 gene

Summariesfor BIN1 gene

Genomic Viewsfor BIN1 gene

Proteinsfor BIN1 gene

Protein Domains /Familiesfor BIN1 gene

Functionfor BIN1 gene

Pathways & Interactionsfor BIN1 gene

Drugs & Compoundsfor BIN1 gene

Transcriptsfor BIN1 gene

Expression for BIN1 gene

Orthologsfor BIN1 gene

Paralogsfor BIN1 gene

Genomic Variantsfor BIN1 gene

Disorders / Diseasesfor BIN1 gene

Publicationsfor BIN1 gene

External Searches for BIN1 gene

Genome Databases showing BIN1 gene

Other Databases showing BIN1 gene

Specialized Databases showing BIN1 gene

Intellectual Propertyfor BIN1 gene

Productsfor BIN1 gene

View Random Gene

Aliases
for BIN1 gene

Summaries
for BIN1 gene

Genomic Views
for BIN1 gene

Proteins
for BIN1 gene

Protein Domains /
Families
for BIN1 gene

Function
for BIN1 gene

Pathways & Interactions
for BIN1 gene

Drugs & Compounds
for BIN1 gene

Transcripts
for BIN1 gene

Expression
for BIN1 gene

Orthologs
for BIN1 gene

Paralogs
for BIN1 gene

Genomic Variants
for BIN1 gene

Disorders / Diseases
for BIN1 gene

Publications
for BIN1 gene

Intellectual Property
for BIN1 gene

Products
for BIN1 gene