BIN1 Gene (Protein Coding)

Bridging Integrator 1

GC02M127048
GIFtS:
48
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 expres... See more...

Aliases for BIN1 Gene

Aliases for BIN1 Gene

  • Bridging Integrator 1 2 3 4 5
  • Amphiphysin II 2 3 4
  • Box-Dependent Myc-Interacting Protein 1 3 4
  • Myc Box-Dependent-Interacting Protein 1 3 4
  • Amphiphysin-Like Protein 3 4
  • AMPHL 3 4
  • Box Dependant MYC Interacting Protein 1 3
  • AMPH2 3
  • SH3P9 3
  • CNM2 3

External Ids for BIN1 Gene

Previous HGNC Symbols for BIN1 Gene

  • AMPHL

Previous GeneCards Identifiers for BIN1 Gene

  • GC02M125104
  • GC02M125732
  • GC02M127710
  • GC02M127898
  • GC02M127521
  • GC02M120113
  • GC02M127805

Summaries for BIN1 Gene

Entrez Gene Summary 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 Arf6 trafficking events and Endocytosis. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is AMPH.

UniProtKB/Swiss-Prot Summary for BIN1 Gene

  • Is a key player in the control of plasma membrane curvature, membrane shaping and membrane remodeling. Required in muscle cells for the formation of T-tubules, tubular invaginations of the plasma membrane that function in depolarization-contraction coupling (PubMed:24755653). Is a negative regulator of endocytosis (By similarity). Is also involved in the regulation of intracellular vesicles sorting, modulation of BACE1 trafficking and the control of amyloid-beta production (PubMed:27179792). In neuronal circuits, endocytosis regulation may influence the internalization of PHF-tau aggregates (By similarity). May be involved in the regulation of MYC activity and the control cell proliferation (PubMed:8782822). Has actin bundling activity and stabilizes actin filaments against depolymerization in vitro (PubMed:28893863).

Gene Wiki entry for BIN1 Gene

Additional gene information for BIN1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification 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 from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BIN1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BIN1

Top Transcription factor binding sites by QIAGEN in the BIN1 gene promoter:
  • NF-kappaB1

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)
Size:
59,329 bases
Orientation:
Minus strand

Genomic View for BIN1 Gene

Genes around BIN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BIN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BIN1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for BIN1 Gene

Proteins for BIN1 Gene

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  • Protein details for BIN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00499-BIN1_HUMAN
    Recommended name:
    Myc box-dependent-interacting protein 1
    Protein Accession:
    O00499
    Secondary Accessions:
    • 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 (By similarity). Binds SH3GLB1 (By similarity). Interacts (via SH3 domain) with DNM1. Interacts with SYNJ1 (By similarity). Interacts (via SH3 domain) with DNM2 (PubMed:17676042). 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 (PubMed:9603201). Interacts with AP2A2. Interacts with AP2B1 (By similarity). Interacts with MYC (via N-terminal transactivation domain); the interaction requires the integrity of the conserved MYC box regions 1 and 2 (By similarity). Interacts with BIN2 (PubMed:10903846). Interacts with SNX4 (PubMed:12668730). Interacts (via BAR domain) with BACE1 (PubMed:27179792). Binds (via BAR domain) F-actin (PubMed:28893863).
    • (Microbial infection) Interacts (SH3 domain) with HCV NS5A.
    SequenceCaution:
    • Sequence=AAC23441.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BIN1 Gene

    Alternative splice isoforms for BIN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BIN1 Gene

Protein Expression for BIN1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for BIN1 Gene

Other Protein References for BIN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Blocks:
  • SH3 domain signature
  • Amphiphysin signature
  • Amphiphysin isoform 2 signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BIN1 Gene

GenScript: Design optimal peptide antigens:
  • Bridging integrator 1 (BIN1_HUMAN)
  • Bridging integrator 1 (Q9BTH3_HUMAN)
genes like me logo Genes that share domains with BIN1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for BIN1 Gene

Function for BIN1 Gene

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Molecular function for BIN1 Gene

UniProtKB/Swiss-Prot Function:
Is a key player in the control of plasma membrane curvature, membrane shaping and membrane remodeling. Required in muscle cells for the formation of T-tubules, tubular invaginations of the plasma membrane that function in depolarization-contraction coupling (PubMed:24755653). Is a negative regulator of endocytosis (By similarity). Is also involved in the regulation of intracellular vesicles sorting, modulation of BACE1 trafficking and the control of amyloid-beta production (PubMed:27179792). In neuronal circuits, endocytosis regulation may influence the internalization of PHF-tau aggregates (By similarity). May be involved in the regulation of MYC activity and the control cell proliferation (PubMed:8782822). Has actin bundling activity and stabilizes actin filaments against depolymerization in vitro (PubMed:28893863).

Phenotypes From GWAS Catalog for BIN1 Gene

Gene Ontology (GO) - Molecular Function for BIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 27179792
GO:0005515 protein binding IEA,IPI 10903846
GO:0005543 phospholipid binding IBA 21873635
GO:0019828 aspartic-type endopeptidase inhibitor activity IMP 27179792
GO:0030276 clathrin binding TAS 25051234
genes like me logo Genes that share ontologies with BIN1: view
genes like me logo Genes that share phenotypes with BIN1: view

Human Phenotype Ontology for BIN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BIN1 Gene

MGI Knock Outs for BIN1:

Animal Model Products

CRISPR Products

miRNA for BIN1 Gene

miRTarBase miRNAs that target BIN1

Clone Products

  • Addgene plasmids 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. Cytoplasm. Endosome. Cell membrane, sarcolemma, T-tubule.
[Isoform IIA]: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BIN1 gene
Compartment Confidence
cytosol 5
plasma membrane 4
cytoskeleton 4
nucleus 4
endosome 4
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
lysosome 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 25051234
GO:0005635 nuclear envelope IEA --
GO:0005737 cytoplasm IDA,IEA 25051234
GO:0005768 endosome IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with BIN1: view

Pathways & Interactions for BIN1 Gene

PathCards logo

SuperPathways for BIN1 Gene

SuperPathway Contained pathways
1 Vesicle-mediated transport
Membrane Trafficking
.93
Vesicle-mediated transport
.93
2 wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
Transport Clathrin-coated vesicle cycle
.32
wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
.31
3 Neuroscience
Neuroscience
-
4 Endocytosis
Endocytosis
-
5 Fc gamma R-mediated phagocytosis
Fc gamma R-mediated phagocytosis
-
genes like me logo Genes that share pathways with BIN1: view

Pathways by source for BIN1 Gene

1 BioSystems pathway for BIN1 Gene
2 KEGG pathways for BIN1 Gene
2 GeneGo (Thomson Reuters) pathways for BIN1 Gene
  • Transport Clathrin-coated vesicle cycle
  • wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
1 Cell Signaling Technology pathway for BIN1 Gene

SIGNOR curated interactions for BIN1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for BIN1 Gene

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:0008333 endosome to lysosome transport IMP 27179792
genes like me logo Genes that share ontologies with BIN1: view

Drugs & Compounds for BIN1 Gene

Products:

  1. Drug

(1) Drugs for BIN1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with BIN1: view

Transcripts for BIN1 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
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mRNA/cDNA for BIN1 Gene

16 REFSEQ mRNAs :
29 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for BIN1

Alternative Splicing Database (ASD) splice patterns (SP) for BIN1 Gene

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:

Relevant External Links for BIN1 Gene

GeneLoc Exon Structure for
BIN1

Expression for BIN1 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BIN1 Gene

mRNA expression in normal human tissues for BIN1 Gene
mRNA expression by GTEx for BIN1 GenemRNA expression by BioGPS for BIN1 Gene

mRNA differential expression in normal tissues according to GTEx for BIN1 Gene

This gene is overexpressed in Muscle - Skeletal (x15.8).

Protein differential expression in normal tissues from HIPED for BIN1 Gene

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



Protein tissue co-expression partners for BIN1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BIN1

SOURCE GeneReport for Unigene cluster for BIN1 Gene:

Hs.193163

mRNA Expression by UniProt/SwissProt for BIN1 Gene:

O00499-BIN1_HUMAN
Tissue specificity: Ubiquitous. Highest expression in the brain and muscle (PubMed:9182667). Expressed in oligodendrocytes (PubMed:27488240). Isoform IIA is expressed only in the brain, where it is detected in the gray matter, but not in the white matter (PubMed:27488240). 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
genes like me logo Genes that share expression patterns with BIN1: view

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.

Orthologs for BIN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia BIN1 31 30
  • 99.66 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia BIN1 31
  • 96 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia BIN1 31 30
  • 92.66 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Bin1 30
  • 90.73 (n)
mouse
(Mus musculus)
 Mammalia Bin1 17 31 30
  • 90.61 (n)
oppossum
(Monodelphis domestica)
 Mammalia BIN1 31
  • 84 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 42 (a)
 ManyToMany
chicken
(Gallus gallus)
 Aves BIN1 31 30
  • 74.68 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia BIN1 31
  • 77 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia bin1 30
  • 72.12 (n)
MGC76187 30
African clawed frog
(Xenopus laevis)
 Amphibia bin1-prov 30
zebrafish
(Danio rerio)
 Actinopterygii LOC563561 30
  • 61.14 (n)
bin1 31
  • 60 (a)
 OneToMany
BIN1 (1 of 2) 31
  • 53 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta Amph 31 32
  • 25 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea F58G6.1 32
  • 32 (a)
amph-1 31
  • 27 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.3172 31
  • 25 (a)
 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

Paralogs for BIN1 Gene

(2) SIMAP similar genes for BIN1 Gene using alignment to 2 proteins:

  • BIN1_HUMAN
  • Q9BTH3_HUMAN
genes like me logo Genes that share paralogs with BIN1: view

Variants for BIN1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BIN1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
641194 Uncertain Significance: Autosomal recessive centronuclear myopathy 127,070,809(-) C/A MISSENSE_VARIANT
641518 Uncertain Significance: Autosomal recessive centronuclear myopathy 127,053,997(-) G/A MISSENSE_VARIANT,INTRON_VARIANT
648328 Uncertain Significance: Autosomal recessive centronuclear myopathy 127,053,939(-) G/A MISSENSE_VARIANT,INTRON_VARIANT
648561 Uncertain Significance: Autosomal recessive centronuclear myopathy 127,050,833(-) C/T MISSENSE_VARIANT
655134 Uncertain Significance: Autosomal recessive centronuclear myopathy 127,068,983(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for BIN1 Gene

Structural Variations from Database of Genomic Variants (DGV) for BIN1 Gene

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

Variation tolerance for BIN1 Gene

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

Human Gene Mutation Database (HGMD)
BIN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BIN1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BIN1 Gene

Disorders for BIN1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for BIN1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myopathy, centronuclear, 2
  • cnm2
myopathy, centronuclear, 1
  • cnm1
centronuclear myopathy
  • myotubular myopathy
myopathy
  • muscular diseases
ptosis
  • blepharoptosis
- elite association - COSMIC cancer census association via MalaCards
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, ECO:0000269 PubMed:20142620, ECO:0000269 PubMed:24755653, ECO:0000269 PubMed:29950440}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=BIN1 mutations have been found in families segregating autosomal dominant centronuclear myopathy. Patients show adult-onset, mildly progressive muscle weakness affecting selected proximal muscles and all distal muscles of the lower limbs. {ECO:0000269 PubMed:25260562}.

Additional Disease Information for BIN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BIN1: view

No data available for Genatlas for BIN1 Gene

Publications for BIN1 Gene

  1. 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 23 54
  2. Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation. (PMID: 20142620) Claeys KG … Stojkovic T (Neurology 2010) 3 4 23 54
  3. 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 23 54
  4. 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 23 54
  5. 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 23 54

ExternalLinks

View latest publications for BIN1 gene in Mastermind

Products for BIN1 Gene

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Sources for BIN1 Gene