Aliases for BIN1 Gene
Aliases for BIN1 Gene
External Ids for BIN1 Gene
- HGNC: 1052
- Entrez Gene: 274
- Ensembl: ENSG00000136717
- OMIM: 601248
- UniProtKB: O00499
Previous HGNC Symbols for BIN1 Gene
- AMPHL
Previous GeneCards Identifiers for BIN1 Gene
- GC02M125104
- GC02M125732
- GC02M127710
- GC02M127898
- GC02M127521
- GC02M120113
- GC02M127805
Summaries for BIN1 Gene
-
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]
GeneCards Summary for BIN1 Gene
BIN1 (Bridging Integrator 1) is a Protein Coding gene. Diseases associated with BIN1 include Myopathy, Centronuclear, 2 and Myopathy, Centronuclear, 1. Among its related pathways are wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF) and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is AMPH.
UniProtKB/Swiss-Prot for BIN1 Gene
-
May be involved in regulation of synaptic vesicle endocytosis. May act as a tumor suppressor and inhibits malignant cell transformation.
Additional gene information for BIN1 Gene
- Monarch Initiative
- Search for BIN1 at DataMed
- Search for BIN1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BIN1 Gene
Genomics for BIN1 Gene
GeneHancer (GH) Regulatory Elements for BIN1 Gene
Promoters and enhancers for BIN1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around BIN1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the BIN1 gene promoter:
Regulatory Element Products
Genomic Locations for BIN1 Gene
Genomic Locations for BIN1 Gene
- chr2:127,048,023-127,107,400
- (GRCh38/hg38)
- Size:
- 59,378 bases
- Orientation:
- Minus strand
- chr2:127,805,603-127,864,931
- (GRCh37/hg19)
Genomic View for BIN1 Gene
Genes around BIN1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q14.3 by Entrez Gene
- 2q14.3 by HGNC
- 2q14.3 by Ensembl
BIN1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for BIN1 Gene
Proteins for BIN1 Gene
-
Protein details for BIN1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O00499-BIN1_HUMAN
- Recommended name:
- Myc box-dependent-interacting protein 1
- Protein Accession:
- O00499
- O00297
- O00545
- O43867
- O60552
- O60553
- O60554
- O60555
- O75514
- O75515
- O75516
- O75517
- O75518
- Q659B7
- Q92944
- Q99688
Protein attributes for BIN1 Gene
- Size:
- 593 amino acids
- Molecular mass:
- 64699 Da
- Quaternary structure:
-
- 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.
- SequenceCaution:
-
- Sequence=AAC23441.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for BIN1 Gene
Protein Expression for BIN1 Gene
Post-translational modifications for BIN1 Gene
- Phosphorylated by protein kinase C.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for BIN1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_006712497.1
- XP_005263702.1
- XP_011509277.1
- XP_006712492.1
- XP_016859314.1
- XP_006712491.1
- XP_016859317.1
- XP_016859312.1
- NP_001307563.1
- NP_001307569.1
- XP_016859308.1
- NP_647594.1
- NP_647595.1
- NP_647596.1
- NP_647597.1
- NP_647593.1
- NP_647598.1
- NP_647599.1
- XP_005263700.1
- NP_004296.1
- XP_006712494.1
- XP_016859315.1
- XP_016859310.1
- XP_005263699.1
- NP_001307562.1
- XP_016859313.1
- NP_001307561.1
- NP_001307571.1
- NP_647600.1
- NP_647601.1
- XP_006712488.1
- XP_016859309.1
- XP_006712495.1
- XP_006712496.1
- XP_006712490.1
- XP_016859316.1
- NP_001307570.1
- XP_016859311.1
- XP_006712489.1
Antibody Products
- Novus Biologicals Antibodies for BIN1
- Invitrogen Antibodies for BIN1
- GeneTex BIN1 Antibody for BIN1
-
Santa Cruz Biotechnology (SCBT) Antibodies for BIN1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for BIN1
- Origene Custom Protein Services for BIN1
- Sino Biological Recombinant Proteins for BIN1
- Browse Sino Biological Cell Lysates
- ProSpec Recombinant Proteins for BIN1
- Search GeneTex for Proteins for BIN1
Assay Products
- antibodies-online: Search results for 11 available BIN1 Elisa Kits ranked by validation data
- Compare Top BIN1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for BIN1 Gene
Domains & Families for BIN1 Gene
Gene Families for BIN1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for BIN1 Gene
Suggested Antigen Peptide Sequences for BIN1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for BIN1 Gene
Function for BIN1 Gene
Molecular function for BIN1 Gene
- UniProtKB/Swiss-Prot Function:
- May be involved in regulation of synaptic vesicle endocytosis. May act as a tumor suppressor and inhibits malignant cell transformation.
Phenotypes From GWAS Catalog for BIN1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002020 | protease binding | IPI | 27179792 |
| GO:0005515 | protein binding | IPI | 10903846 |
| GO:0030276 | clathrin binding | TAS | 25051234 |
| GO:0042802 | identical protein binding | IPI | 23917616 |
| GO:0048156 | tau protein binding | IPI | 23399914 |
Phenotypes for BIN1 Gene
- MGI mutant phenotypes for BIN1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for BIN1:
-
- Increased G1 DNA content
- Dynamic nuclei (hole, folded or small irregular)
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435)
- Decreased hepcidin::fluc mRNA expression
- Decreased NF-kappaB reporter expression
- Increased proliferation
- Increased Sindbis virus (SINV) infection
- Increased viability
- Increased transferrin (TF) endocytosis
Animal Models for BIN1 Gene
- MGI Knock Outs for BIN1:
-
- Bin1 Bin1<tm1Gcp>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for BIN1
-
CRISPR Products
-
OriGene CRISPR knockouts for BIN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BIN1
- genomics-online: gRNA clones - Search results for 155 available BIN1 gene related products
- Overview of 155 available BIN1 gene related products
-
Recommended
- Applied Biological Materials CRISPR for BIN1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BIN1
- GenScript: Design CRISPR guide RNA sequences for BIN1
miRNA for BIN1 Gene
- miRTarBase miRNAs that target BIN1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for BIN1
- Browse OriGene Inhibitory RNA Products For BIN1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BIN1
- genomics-online: shRNA clones - Search results for 155 available BIN1 gene related products
- Overview of 155 available BIN1 gene related products
-
Recommended
Clone Products
-
OriGene ORF clones in human for BIN1
- RC220616L1V
- RC220616L2V
- RC214216L1V
- RC214216L2V
- RC220585L1V
- RC220585L2V
- RC214504L1V
- RC214504L2V
- RC214277L1V
- RC214277L2V
- RC220682L1V
- RC220682L2V
- RC213069L1V
- RC213069L2V
- RC214334L1V
- RC214334L2V
- RC202423L1V
- RC202423L2V
- RC223609L1V
- RC223609L2V
- RC220616
- RC220616L1
- RC220616L2
- RG220616
- RC214216
- RC214216L1
- RC214216L2
- RG214216
- RC220585
- RC220585L1
- RC220585L2
- RG220585
- RC214504
- RC214504L1
- RC214504L2
- RG214504
- RC214277
- RC214277L1
- RC214277L2
- RG214277
- RC220682
- RC220682L1
- RC220682L2
- RG220682
- RC213069
- RC213069L1
- RC213069L2
- RG213069
- RC214334
- RC214334L1
- RC214334L2
- RG214334
- RC202423
- RC202423L1
- RC202423L2
- RG202423
- RC223609
- RC223609L1
- RC223609L2
- RG223609
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
-
GenScript: Next-day shipping of latest version cDNA ORF clones for BIN1 in any vector
- XM_006712425.3
- NM_004305.3
- XM_006712434.3
- XM_005263642.3
- XM_006712426.3
- XM_006712433.3
- XM_006712431.3
- XM_006712432.3
- XM_006712428.3
- XM_006712429.3
- XM_005263643.3
- XM_011510975.2
- XM_006712427.2
- NM_139351.2
- NM_139345.2
- NM_139349.2
- NM_139344.2
- NM_139350.2
- XM_005263645.2
- NM_139347.2
- NM_139343.2
- NM_139346.2
- NM_139348.2
- NM_001320642.1
- XM_017003828.1
- NM_001320634.1
- XM_017003821.1
- XM_017003823.1
- XM_017003824.1
- XM_017003825.1
- XM_017003820.1
- NM_001320633.1
- NM_001320640.1
- NM_001320632.1
- NM_001320641.1
- XM_017003819.1
- XM_017003827.1
- XM_017003822.1
- XM_017003826.1
- Sino Biological Human cDNA Clone for BIN1
- VectorBuilder custom plasmid, inducible vectors for BIN1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for BIN1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for BIN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BIN1
- genomics-online: cdna clones - Search results for 155 available BIN1 gene related products
- Overview of 155 available BIN1 gene related products
-
Recommended
- orf clones - Search results for 155 available BIN1 gene related products
- Overview of 155 available BIN1 gene related products
-
Recommended
- Applied Biological Materials Clones for BIN1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for BIN1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for BIN1 Gene
Localization for BIN1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for BIN1 Gene
- Isoform BIN1: Nucleus.
- Isoform IIA: Cytoplasm.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 4 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | 25051234 |
| GO:0005635 | nuclear envelope | IEA | -- |
| GO:0005737 | cytoplasm | IDA | 25051234 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005856 | colocalizes_with cytoskeleton | IDA | 25051234 |
Pathways & Interactions for BIN1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Vesicle-mediated transport | ||
| 2 | wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF) | ||
| 3 | Endocytosis | ||
| 4 | Fc gamma R-mediated phagocytosis | ||
| 5 | Neuroscience | ||
Pathways by source for BIN1 Gene
1 BioSystems pathway for BIN1 Gene
3 Reactome pathways for BIN1 Gene
2 KEGG pathways for BIN1 Gene
2 GeneGo (Thomson Reuters) pathways for BIN1 Gene
1 Cell Signaling Technology pathway for BIN1 Gene
Interacting Proteins for BIN1 Gene
Selected Interacting proteins:
O00499-BIN1_HUMAN
ENSP00000316779
for BIN1 Gene via
IID
MINT
UniProtKB
STRING
GPS-Prot Interaction Network for BIN1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006897 | endocytosis | TAS | 23399914 |
| GO:0006997 | nucleus organization | IMP | 26506308 |
| GO:0007010 | cytoskeleton organization | TAS | 23399914 |
| GO:0007275 | multicellular organism development | IEA | -- |
| GO:0008283 | cell proliferation | TAS | 8782822 |
No data available for SIGNOR curated interactions for BIN1 Gene
Transcripts for BIN1 Gene
mRNA/cDNA for BIN1 Gene
- (433) Selected AceView cDNA sequences:
- (19) Additional mRNA sequences :
- (39) REFSEQ mRNAs :
- (14) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000357970 2497 bps (uc002tnv.3)
- ENST00000376113 1832 bps (uc002tnu.3)
- ENST00000393040 2293 bps (uc002toa.3)
- ENST00000393041 2272 bps (uc002toc.3)
- ENST00000409400 2143 bps (uc002tob.3)
CRISPR Products
-
OriGene CRISPR knockouts for BIN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BIN1
- genomics-online: gRNA clones - Search results for 155 available BIN1 gene related products
- Overview of 155 available BIN1 gene related products
-
Recommended
- Applied Biological Materials CRISPR for BIN1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BIN1
- GenScript: Design CRISPR guide RNA sequences for BIN1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for BIN1
- Browse OriGene Inhibitory RNA Products For BIN1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BIN1
- genomics-online: shRNA clones - Search results for 155 available BIN1 gene related products
- Overview of 155 available BIN1 gene related products
-
Recommended
Clone Products
-
OriGene ORF clones in human for BIN1
- RC220616L1V
- RC220616L2V
- RC214216L1V
- RC214216L2V
- RC220585L1V
- RC220585L2V
- RC214504L1V
- RC214504L2V
- RC214277L1V
- RC214277L2V
- RC220682L1V
- RC220682L2V
- RC213069L1V
- RC213069L2V
- RC214334L1V
- RC214334L2V
- RC202423L1V
- RC202423L2V
- RC223609L1V
- RC223609L2V
- RC220616
- RC220616L1
- RC220616L2
- RG220616
- RC214216
- RC214216L1
- RC214216L2
- RG214216
- RC220585
- RC220585L1
- RC220585L2
- RG220585
- RC214504
- RC214504L1
- RC214504L2
- RG214504
- RC214277
- RC214277L1
- RC214277L2
- RG214277
- RC220682
- RC220682L1
- RC220682L2
- RG220682
- RC213069
- RC213069L1
- RC213069L2
- RG213069
- RC214334
- RC214334L1
- RC214334L2
- RG214334
- RC202423
- RC202423L1
- RC202423L2
- RG202423
- RC223609
- RC223609L1
- RC223609L2
- RG223609
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
-
GenScript: Next-day shipping of latest version cDNA ORF clones for BIN1 in any vector
- XM_006712425.3
- NM_004305.3
- XM_006712434.3
- XM_005263642.3
- XM_006712426.3
- XM_006712433.3
- XM_006712431.3
- XM_006712432.3
- XM_006712428.3
- XM_006712429.3
- XM_005263643.3
- XM_011510975.2
- XM_006712427.2
- NM_139351.2
- NM_139345.2
- NM_139349.2
- NM_139344.2
- NM_139350.2
- XM_005263645.2
- NM_139347.2
- NM_139343.2
- NM_139346.2
- NM_139348.2
- NM_001320642.1
- XM_017003828.1
- NM_001320634.1
- XM_017003821.1
- XM_017003823.1
- XM_017003824.1
- XM_017003825.1
- XM_017003820.1
- NM_001320633.1
- NM_001320640.1
- NM_001320632.1
- NM_001320641.1
- XM_017003819.1
- XM_017003827.1
- XM_017003822.1
- XM_017003826.1
- Sino Biological Human cDNA Clone for BIN1
- VectorBuilder custom plasmid, inducible vectors for BIN1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for BIN1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for BIN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BIN1
- genomics-online: cdna clones - Search results for 155 available BIN1 gene related products
- Overview of 155 available BIN1 gene related products
-
Recommended
- orf clones - Search results for 155 available BIN1 gene related products
- Overview of 155 available BIN1 gene related products
-
Recommended
- Applied Biological Materials Clones for BIN1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP16: |
| ExUns: | 21a | · | 21b | ^ | 22a | · | 22b |
|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||
| SP2: | - | ||||||
| SP3: | - | ||||||
| SP4: | - | ||||||
| SP5: | - | ||||||
| SP6: | - | ||||||
| SP7: | - | ||||||
| SP8: | - | ||||||
| SP9: | - | ||||||
| SP10: | - | ||||||
| SP11: | - | ||||||
| SP12: | |||||||
| SP13: | |||||||
| SP14: | - | ||||||
| SP15: | - | ||||||
| SP16: |
Expression for BIN1 Gene
mRNA differential expression in normal tissues according to GTEx for BIN1 Gene
This gene is overexpressed in Muscle - Skeletal (x15.8).
This gene is overexpressed in Brain (13.7), Frontal cortex (7.9), and Tonsil (6.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BIN1 Gene
NURSA nuclear receptor signaling pathways regulating expression of BIN1 Gene:
BIN1SOURCE GeneReport for Unigene cluster for BIN1 Gene:
Hs.193163mRNA Expression by UniProt/SwissProt for BIN1 Gene:
O00499-BIN1_HUMAN
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.
Evidence on tissue expression from TISSUES for BIN1 Gene
- Nervous system(4.9)
- Muscle(4.8)
- Blood(4.5)
- Liver(4.3)
- Eye(2.7)
Phenotype-based relationships between genes and organs from Gene ORGANizer for BIN1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- jaw
- larynx
- lip
- mandible
- maxilla
- mouth
- neck
- skull
- tongue
- vocal cord
Thorax:
- heart
- heart valve
- lung
- rib
- rib cage
Pelvis:
- pelvis
Limb:
- ankle
- arm
- digit
- elbow
- femur
- finger
- foot
- forearm
- hand
- hip
- knee
- lower limb
- shin
- shoulder
- thigh
- toe
- upper limb
- wrist
General:
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs and template standards for BIN1
-
OriGene qPCR primer pairs for BIN1
- genomics-online: primer clones - Search results for 155 available BIN1 gene related products
- Overview of 155 available BIN1 gene related products
-
Recommended
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for BIN1 Gene
Orthologs for BIN1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | BIN1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | BIN1 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | BIN1 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Bin1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Bin1 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | BIN1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
ManyToMany | |
| chicken (Gallus gallus) |
Aves | BIN1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | BIN1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | bin1 33 |
|
||
| MGC76187 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | bin1-prov 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC563561 33 |
|
||
| bin1 34 |
|
OneToMany | |||
| BIN1 (1 of 2) 34 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | Amph 34 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | F58G6.1 35 |
|
|
|
| amph-1 34 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.3172 34 |
|
OneToMany |
- Species where no ortholog for BIN1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for BIN1 Gene
- ENSEMBL:
- Gene Tree for BIN1 (if available)
- TreeFam:
- Gene Tree for BIN1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for BIN1: view image
Paralogs for BIN1 Gene
Variants for BIN1 Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1029519047 | uncertain-significance, Autosomal recessive centronuclear myopathy | 127,107,309(-) | G/T | 5_prime_UTR_variant, genic_upstream_transcript_variant | |
| rs1054667723 | uncertain-significance, Autosomal recessive centronuclear myopathy | 127,107,140(-) | G/A/T | 5_prime_UTR_variant, genic_upstream_transcript_variant | |
| rs1060743 | conflicting-interpretations-of-pathogenicity, likely-benign, not specified, Autosomal recessive centronuclear myopathy | 127,068,957(-) | A/G | coding_sequence_variant, synonymous_variant | |
| rs111649895 | uncertain-significance, Autosomal recessive centronuclear myopathy | 127,048,444(-) | G/A/T | 3_prime_UTR_variant | |
| rs112318500 | conflicting-interpretations-of-pathogenicity, not specified, Autosomal recessive centronuclear myopathy | 127,050,500(-) | G/A/C | coding_sequence_variant, intron_variant, missense_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv4064n100 | CNV | gain | 25217958 |
| dgv4065n100 | CNV | gain | 25217958 |
| dgv4066n100 | CNV | gain | 25217958 |
| esv2720727 | CNV | deletion | 23290073 |
| esv2759090 | CNV | gain | 17122850 |
| nsv1001064 | CNV | loss | 25217958 |
| nsv1005149 | CNV | gain | 25217958 |
| nsv10142 | CNV | gain | 18304495 |
| nsv2911 | CNV | insertion | 18451855 |
| nsv516759 | CNV | loss | 19592680 |
| nsv583032 | CNV | loss | 21841781 |
| nsv583033 | CNV | loss | 21841781 |
| nsv583034 | CNV | loss | 21841781 |
| nsv583035 | CNV | loss | 21841781 |
| nsv954812 | CNV | deletion | 24416366 |
| nsv999422 | CNV | gain | 25217958 |
Residual Variation Intolerance Score:
43% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.68;
57.17% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for BIN1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BIN1 Gene
Disorders for BIN1 Gene
(6) MalaCards diseases for BIN1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myopathy, centronuclear, 2 |
|
|
| myopathy, centronuclear, 1 |
|
|
| centronuclear myopathy |
|
|
| intracranial abscess |
|
|
| dental abscess |
|
|
Search BIN1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
BIN1_HUMAN- Myopathy, centronuclear, 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. {ECO:0000269 PubMed:17676042}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for BIN1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for BIN1 Gene
Publications for BIN1 Gene
- Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. (PMID: 17676042) Nicot AS … Laporte J (Nature genetics 2007) 2 3 4 22 58
- The SH3 binding motif of HCV [corrected] NS5A protein interacts with Bin1 and is important for apoptosis and infectivity. (PMID: 16530520) Nanda SK … Liang TJ (Gastroenterology 2006) 3 4 22 58
- A role for the putative tumor suppressor Bin1 in muscle cell differentiation. (PMID: 9418903) Wechsler-Reya RJ … Prendergast GC (Molecular and cellular biology 1998) 3 4 22 58
- Multiple amphiphysin II splice variants display differential clathrin binding: identification of two distinct clathrin-binding sites. (PMID: 9603201) Ramjaun AR … McPherson PS (Journal of neurochemistry 1998) 3 4 22 58
- Identification and characterization of a nerve terminal-enriched amphiphysin isoform. (PMID: 9195986) Ramjaun AR … McPherson PS (The Journal of biological chemistry 1997) 3 4 22 58
Products for BIN1 Gene
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- Custom Antibody ServicesOriGene Antibodies for BIN1
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- OriGene qPCR primer pairs and template standards for BIN1
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- OriGene ORF clones in human for BIN1
- RC220616L1V
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- RC214216L1V
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- RC202423L1V
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- RC223609L1V
- RC223609L2V
- RC220616
- RC220616L1
- RC220616L2
- RG220616
- RC214216
- RC214216L1
- RC214216L2
- RG214216
- RC220585
- RC220585L1
- RC220585L2
- RG220585
- RC214504
- RC214504L1
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- RG214504
- RC214277
- RC214277L1
- RC214277L2
- RG214277
- RC220682
- RC220682L1
- RC220682L2
- RG220682
- RC213069
- RC213069L1
- RC213069L2
- RG213069
- RC214334
- RC214334L1
- RC214334L2
- RG214334
- RC202423
- RC202423L1
- RC202423L2
- RG202423
- RC223609
- RC223609L1
- RC223609L2
- RG223609
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- GenScript: Next-day shipping of latest version cDNA ORF clones for BIN1 in any vector
- XM_006712425.3
- NM_004305.3
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- NM_139351.2
- NM_139345.2
- NM_139349.2
- NM_139344.2
- NM_139350.2
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- NM_001320642.1
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- NM_001320633.1
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- NM_001320632.1
- NM_001320641.1
- XM_017003819.1
- XM_017003827.1
- XM_017003822.1
- XM_017003826.1
- GenScript Custom Purified and Recombinant Proteins Services for BIN1
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- GenScript: Design CRISPR guide RNA sequences for BIN1
- Design optimal peptide antigens
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- Sino Biological Human cDNA Clone for BIN1
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for BIN1
- antibodies-online: Search results for 109 available BIN1 Antibodies ranked by validation data
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- GeneTex BIN1 Antibody for BIN1
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- Santa Cruz Biotechnology (SCBT) Antibodies for BIN1
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- Horizon Cell Lines for BIN1
- genomics-online: cdna clones - Search results for 155 available BIN1 gene related products
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Sources for BIN1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
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- (84) Vector BioLabs
- (85) ESI-BIO
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- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
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- (97) antibodies-online
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- (105) Taconic Biosciences
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- (155) genomics-online
- (156) UCNEbase
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