Human Gene BIN2 (uc001ryg.3) Description and Page Index
  Description: Homo sapiens bridging integrator 2 (BIN2), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr12:51,674,822-51,717,938 Size: 43,117 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr12:51,675,283-51,717,886 Size: 42,604 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr12:51,674,822-51,717,938)mRNA (may differ from genome)Protein (565 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Bridging integrator 2; AltName: Full=Breast cancer-associated protein 1;
SUBUNIT: Interacts with BIN1.
INTERACTION: O00499:BIN1; NbExp=2; IntAct=EBI-2042570, EBI-719094;
TISSUE SPECIFICITY: 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.
INDUCTION: Up-regulated during monocytic differentiation.
SIMILARITY: Contains 1 BAR domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): BIN2
CDC HuGE Published Literature: BIN2
Positive Disease Associations: Longevity
Related Studies:
  1. Longevity
    Stefan Walter et al. Neurobiology of aging 2011, A genome-wide association study of aging., Neurobiology of aging. [PubMed 21782286]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 117.32 RPKM in Whole Blood
Total median expression: 262.01 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -16.3052-0.313 Picture PostScript Text
3' UTR -125.40461-0.272 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003005 - Amphiphysin
IPR004148 - BAR_dom

Pfam Domains:
PF03114 - BAR domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help

- X-ray MuPIT

ModBase Predicted Comparative 3D Structure on Q9UBW5
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 Protein SequenceProtein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0005543 phospholipid binding

Biological Process:
GO:0006911 phagocytosis, engulfment
GO:0043312 neutrophil degranulation
GO:0060326 cell chemotaxis
GO:0071800 podosome assembly
GO:0097320 plasma membrane tubulation

Cellular Component:
GO:0001891 phagocytic cup
GO:0002102 podosome
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005938 cell cortex
GO:0016020 membrane
GO:0030054 cell junction
GO:0034774 secretory granule lumen
GO:0042995 cell projection
GO:1904813 ficolin-1-rich granule lumen

-  Descriptions from all associated GenBank mRNAs
  AF146531 - Homo sapiens bridging integrator-2 (BIN2) mRNA, complete cds.
AB032698 - Homo sapiens mRNA for breast cancer associated protein BRAP1, complete cds.
AK000783 - Homo sapiens cDNA FLJ20776 fis, clone COL05962.
BC047686 - Homo sapiens bridging integrator 2, mRNA (cDNA clone MGC:51869 IMAGE:5722815), complete cds.
AK225911 - Homo sapiens mRNA for bridging integrator 2 variant, clone: FCC118H11.
JD494900 - Sequence 475924 from Patent EP1572962.
JD503555 - Sequence 484579 from Patent EP1572962.
JD131008 - Sequence 112032 from Patent EP1572962.
JD237943 - Sequence 218967 from Patent EP1572962.
AK300211 - Homo sapiens cDNA FLJ56245 complete cds, highly similar to Homo sapiens bridging integrator 2 (BIN2), mRNA.
JD278724 - Sequence 259748 from Patent EP1572962.
JD207278 - Sequence 188302 from Patent EP1572962.
JD408211 - Sequence 389235 from Patent EP1572962.
JD429256 - Sequence 410280 from Patent EP1572962.
JD221001 - Sequence 202025 from Patent EP1572962.
JD325155 - Sequence 306179 from Patent EP1572962.
AK314304 - Homo sapiens cDNA, FLJ95061, highly similar to Homo sapiens bridging integrator 2 (BIN2), mRNA.
KJ898894 - Synthetic construct Homo sapiens clone ccsbBroadEn_08288 BIN2 gene, encodes complete protein.
AK093638 - Homo sapiens cDNA FLJ36319 fis, clone THYMU2005439, highly similar to Homo sapiens mRNA for breast cancer associated protein BRAP1.
CU690454 - Synthetic construct Homo sapiens gateway clone IMAGE:100021430 5' read BIN2 mRNA.
JD475038 - Sequence 456062 from Patent EP1572962.
JD408822 - Sequence 389846 from Patent EP1572962.
JD140029 - Sequence 121053 from Patent EP1572962.
JD216393 - Sequence 197417 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UBW5 (Reactome details) participates in the following event(s):

R-HSA-6798748 Exocytosis of secretory granule lumen proteins
R-HSA-6800434 Exocytosis of ficolin-rich granule lumen proteins
R-HSA-6798695 Neutrophil degranulation
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: BIN2_HUMAN, BRAP1, NM_016293, NP_057377, Q86VV0, Q9NWK4, Q9UBW5, Q9UKN4
UCSC ID: uc001ryg.3
RefSeq Accession: NM_016293
Protein: Q9UBW5 (aka BIN2_HUMAN)
CCDS: CCDS8811.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_016293.2
exon count: 13CDS single in 3' UTR: no RNA size: 2228
ORF size: 1698CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3521.00frame shift in genome: no % Coverage: 99.24
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.