Aliases for BIN2 Gene

Aliases for BIN2 Gene

  • Bridging Integrator 2 2 3 4 5
  • Breast Cancer-Associated Protein 1 3 4
  • Breast Cancer Associated Protein BRAP1 3
  • BRAP-1 3
  • BRAP1 4

External Ids for BIN2 Gene

Previous GeneCards Identifiers for BIN2 Gene

  • GC12M051831
  • GC12M051697
  • GC12M051391
  • GC12M049961
  • GC12M048707
  • GC12M051674

Summaries for BIN2 Gene

GeneCards Summary for BIN2 Gene

BIN2 (Bridging Integrator 2) is a Protein Coding gene. Diseases associated with BIN2 include Kummell's Disease and Acute Tympanitis. Among its related pathways are Innate Immune System. Gene Ontology (GO) annotations related to this gene include phospholipid binding. An important paralog of this gene is BIN1.

UniProtKB/Swiss-Prot Summary for BIN2 Gene

  • Promotes cell motility and migration, probably via its interaction with the cell membrane and with podosome proteins that mediate interaction with the cytoskeleton. Modulates membrane curvature and mediates membrane tubulation. Plays a role in podosome formation. Inhibits phagocytosis.

Additional gene information for BIN2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BIN2 Gene

Genomics for BIN2 Gene

GeneHancer (GH) Regulatory Elements for BIN2 Gene

Promoters and enhancers for BIN2 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 BIN2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BIN2

Top Transcription factor binding sites by QIAGEN in the BIN2 gene promoter:
  • AML1a
  • AP-1
  • c-Fos
  • c-Jun
  • E47
  • HNF-4alpha1
  • HNF-4alpha2
  • Tal-1

Genomic Locations for BIN2 Gene

Genomic Locations for BIN2 Gene
chr12:51,281,038-51,324,680
(GRCh38/hg38)
Size:
43,643 bases
Orientation:
Minus strand
chr12:51,674,822-51,718,452
(GRCh37/hg19)
Size:
43,631 bases
Orientation:
Minus strand

Genomic View for BIN2 Gene

Genes around BIN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BIN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BIN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BIN2 Gene

Proteins for BIN2 Gene

  • Protein details for BIN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBW5-BIN2_HUMAN
    Recommended name:
    Bridging integrator 2
    Protein Accession:
    Q9UBW5
    Secondary Accessions:
    • B7Z6F3
    • F5H0W4
    • Q86VV0
    • Q9NWK4
    • Q9UKN4

    Protein attributes for BIN2 Gene

    Size:
    565 amino acids
    Molecular mass:
    61874 Da
    Quaternary structure:
    • Homodimer. Interacts with BIN1. Interacts with ARHGEF6 (via SH3 domain), ARHGEF7 (via SH3 domain), SH3GL1, SH3GL2 and SH3GL3. Identified in a complex with ARHGEF6 and GIT2.
    SequenceCaution:
    • Sequence=BAA91376.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA91376.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BIN2 Gene

    Alternative splice isoforms for BIN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BIN2 Gene

Post-translational modifications for BIN2 Gene

  • Ubiquitination at Lys65
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BIN2 Gene

Domains & Families for BIN2 Gene

Gene Families for BIN2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BIN2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BIN2 Gene

GenScript: Design optimal peptide antigens:
  • Breast cancer-associated protein 1 (BIN2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UBW5

UniProtKB/Swiss-Prot:

BIN2_HUMAN :
  • The BAR domain mediates dimerization and interaction with membranes enriched in phosphatidylinositides.
Domain:
  • The BAR domain mediates dimerization and interaction with membranes enriched in phosphatidylinositides.
genes like me logo Genes that share domains with BIN2: view

Function for BIN2 Gene

Molecular function for BIN2 Gene

UniProtKB/Swiss-Prot Function:
Promotes cell motility and migration, probably via its interaction with the cell membrane and with podosome proteins that mediate interaction with the cytoskeleton. Modulates membrane curvature and mediates membrane tubulation. Plays a role in podosome formation. Inhibits phagocytosis.
UniProtKB/Swiss-Prot Induction:
Up-regulated during monocytic differentiation.

Phenotypes From GWAS Catalog for BIN2 Gene

Gene Ontology (GO) - Molecular Function for BIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 10903846
GO:0005543 phospholipid binding IDA 23285027
genes like me logo Genes that share ontologies with BIN2: view
genes like me logo Genes that share phenotypes with BIN2: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for BIN2 Gene

Localization for BIN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BIN2 Gene

Cytoplasm. Cell projection, podosome membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cell cortex. Cell projection, phagocytic cup. Note=Associates with membranes enriched in phosphoinositides. Detected in the actin-rich cell cortex at the leading edge of migrating cells. Detected at podosomes, at an actin-rich ring-like structure. {ECO:0000269 PubMed:23285027}.

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 BIN2 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 4
extracellular 4
nucleus 3
cytosol 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001891 colocalizes_with phagocytic cup IDA 23285027
GO:0002102 podosome IBA,IDA 23285027
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IBA 21873635
genes like me logo Genes that share ontologies with BIN2: view

Pathways & Interactions for BIN2 Gene

PathCards logo

SuperPathways for BIN2 Gene

genes like me logo Genes that share pathways with BIN2: view

Pathways by source for BIN2 Gene

3 Reactome pathways for BIN2 Gene
;

Gene Ontology (GO) - Biological Process for BIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006911 phagocytosis, engulfment IMP 23285027
GO:0043312 neutrophil degranulation TAS --
GO:0060326 cell chemotaxis IMP 23285027
GO:0071800 podosome assembly IMP,IBA 23285027
GO:0097320 plasma membrane tubulation IBA,IDA 23285027
genes like me logo Genes that share ontologies with BIN2: view

No data available for SIGNOR curated interactions for BIN2 Gene

Drugs & Compounds for BIN2 Gene

No Compound Related Data Available

Transcripts for BIN2 Gene

mRNA/cDNA for BIN2 Gene

7 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BIN2 Gene

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

Relevant External Links for BIN2 Gene

GeneLoc Exon Structure for
BIN2

Expression for BIN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BIN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BIN2 Gene

This gene is overexpressed in Whole Blood (x36.3).

Protein differential expression in normal tissues from HIPED for BIN2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (19.4), Platelet (19.2), and Lavage (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BIN2 Gene



Protein tissue co-expression partners for BIN2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BIN2

SOURCE GeneReport for Unigene cluster for BIN2 Gene:

Hs.14770

mRNA Expression by UniProt/SwissProt for BIN2 Gene:

Q9UBW5-BIN2_HUMAN
Tissue specificity: Detected in natural killer cells (at protein level). Highest level expression seen in spleen and peripheral blood leukocytes and is also expressed at high levels in thymus, colon and placenta, suggesting preferential expression in hematopoietic tissues.

Evidence on tissue expression from TISSUES for BIN2 Gene

  • Blood(4.4)
  • Intestine(4.3)
  • Liver(4.3)
  • Bone marrow(2.4)
  • Lymph node(2.4)
  • Spleen(2.4)
genes like me logo Genes that share expression patterns with BIN2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BIN2 Gene

Orthologs for BIN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for BIN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BIN2 31 30
  • 98.38 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BIN2 31 30
  • 85.83 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BIN2 31 30
  • 84.81 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BIN2 31
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bin2 17 31 30
  • 77.3 (n)
rat
(Rattus norvegicus)
Mammalia Bin2 30
  • 76.24 (n)
chicken
(Gallus gallus)
Aves BIN2 31
  • 25 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BIN2 31
  • 70 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii bin2b 31
  • 39 (a)
OneToMany
bin2a 31
  • 34 (a)
OneToMany
-- 30
fruit fly
(Drosophila melanogaster)
Insecta Amph 31 32
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F58G6.1 32
  • 38 (a)
amph-1 31
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3172 31
  • 19 (a)
OneToMany
Species where no ortholog for BIN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for BIN2 Gene

ENSEMBL:
Gene Tree for BIN2 (if available)
TreeFam:
Gene Tree for BIN2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BIN2: view image

Paralogs for BIN2 Gene

Paralogs for BIN2 Gene

(2) SIMAP similar genes for BIN2 Gene using alignment to 4 proteins:

  • BIN2_HUMAN
  • F5H0W4_HUMAN
  • S4R3J0_HUMAN
  • S4R418_HUMAN

Pseudogenes.org Pseudogenes for BIN2 Gene

genes like me logo Genes that share paralogs with BIN2: view

Variants for BIN2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BIN2 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs7312857 - p.Ser48Asn
rs7954976 - p.Asn529Asp

Additional dbSNP identifiers (rs#s) for BIN2 Gene

Structural Variations from Database of Genomic Variants (DGV) for BIN2 Gene

Variant ID Type Subtype PubMed ID
nsv1138133 CNV deletion 24896259
nsv469377 CNV loss 19166990
nsv558877 CNV loss 21841781
nsv832408 CNV gain 17160897

Variation tolerance for BIN2 Gene

Residual Variation Intolerance Score: 47.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.76; 73.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BIN2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BIN2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BIN2 Gene

Disorders for BIN2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for BIN2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
kummell's disease
  • kummell disease
acute tympanitis
  • acute myringitis
myringitis bullosa hemorrhagica
  • bullous myringitis
arteriovenous malformations of the brain
  • bavm
- elite association - COSMIC cancer census association via MalaCards
Search BIN2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BIN2

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 BIN2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BIN2 Gene

Publications for BIN2 Gene

  1. Bin2, a functionally nonredundant member of the BAR adaptor gene family. (PMID: 10903846) Ge K … Prendergast GC (Genomics 2000) 2 3 4 54
  2. Bin2 is a membrane sculpting N-BAR protein that influences leucocyte podosomes, motility and phagocytosis. (PMID: 23285027) Sánchez-Barrena MJ … McMahon HT (PloS one 2012) 3 4 54
  3. A genome-wide association study of aging. (PMID: 21782286) Walter S … Franceschini N (Neurobiology of aging 2011) 3 41 54
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  5. The finished DNA sequence of human chromosome 12. (PMID: 16541075) Scherer SE … Baylor College of Medicine Human Genome Sequencing Center Sequence Production Team (Nature 2006) 3 4 54

Products for BIN2 Gene

  • Signalway ELISA kits for BIN2
  • Signalway Proteins for BIN2

Sources for BIN2 Gene