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ITGB3BP Gene

protein-coding   GIFtS: 60
GCID: GC01M063906

Integrin Beta 3 Binding Protein (Beta3-Endonexin)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Integrin Beta 3 Binding Protein (Beta3-Endonexin)1 2     CENPR2 3
NRIF32 3 5     HSU371392
Centromere Protein R1 2     TAP202
Integrin Beta-3-Binding Protein2 3     Beta 3 Endonexin2
Nuclear Receptor-Interacting Factor 32 3     beta-3-endonexin2
CENP-R2 3     Beta-3-endonexin3

External Ids:    HGNC: 61571   Entrez Gene: 234212   Ensembl: ENSG000001428567   OMIM: 6054945   UniProtKB: Q133523   
ORGUL members:         

Export aliases for ITGB3BP gene to outside databases

Previous GC identifers: GC01M063742 GC01M062829 GC01M063264 GC01M063276 GC01M063246 GC01M063618 GC01M063679 GC01M062014


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ITGB3BP Gene:
This gene encodes a transcriptional coregulator that binds to and enhances the activity of members of the nuclear
receptor families, thyroid hormone receptors and retinoid X receptors. This protein also acts as a corepressor of
NF-kappaB-dependent signaling. This protein induces apoptosis in breast cancer cells through a caspase 2-mediated
signaling pathway. This protein is also a component of the centromere-specific histone H3 variant nucleosome
associated complex (CENP-NAC) and may be involved in mitotic progression by recruiting the histone H3 variant
CENP-A to the centromere. Alternate splicing results in multiple transcript variants. (provided by RefSeq, Sep
2011)

GeneCards Summary for ITGB3BP Gene:
ITGB3BP (integrin beta 3 binding protein (beta3-endonexin)) is a protein-coding gene. Diseases associated with ITGB3BP include breast cancer, and thyroiditis. GO annotations related to this gene include protein C-terminus binding and signal transducer activity.

UniProtKB/Swiss-Prot: CENPR_HUMAN, Q13352
Function: Transcription coregulator that can have both coactivator and corepressor functions. Isoform 1, but not
other isoforms, is involved in the coactivation of nuclear receptors for retinoid X (RXRs) and thyroid hormone
(TRs) in a ligand-dependent fashion. In contrast, it does not coactivate nuclear receptors for retinoic acid,
vitamin D, progesterone receptor, nor glucocorticoid. Acts as a coactivator for estrogen receptor alpha. Acts as
a transcriptional corepressor via its interaction with the NFKB1 NF-kappa-B subunit, possibly by interfering with
the transactivation domain of NFKB1. Induces apoptosis in breast cancer cells, but not in other cancer cells, via
a caspase-2 mediated pathway that involves mitochondrial membrane permeabilization but does not require other
caspases. May also act as an inhibitor of cyclin A-associated kinase. Also acts a component of the CENPA-CAD
(nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore
proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized
CENPA into centromeres via its interaction with the CENPA-NAC complex

Gene Wiki entry for ITGB3BP Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ITGB3BP gene promoter:
         Bach2   Pax-2a   POU6F1 (c2)   FOXL1   POU2F1   POU2F1a   POU2F1b   FOXJ2 (long isoform)   FOXJ2   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidITGB3BP promoter sequence
   Search Chromatin IP Primers for ITGB3BP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ITGB3BP


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

Entrez Gene cytogenetic band: 1p31.3   Ensembl cytogenetic band:  1p31.3   HGNC cytogenetic band: 1p31.3

ITGB3BP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ITGB3BP gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M063906:  view genomic region     (about GC identifiers)

Start:
63,906,441 bp from pter      End:
64,059,392 bp from pter
Size:
152,952 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CENPR_HUMAN, Q13352 (See protein sequence)
Recommended Name: Centromere protein R  
Size: 177 amino acids; 20194 Da
Subunit: Homodimer; mediated by the coiled coil domain. Isoform 3, but not other isoforms, interacts with the
cytoplasmic tail of integrin ITGB3. The relevance of the interaction with ITGB3 is however uncertain, since
isoform 3 is mainly nuclear. Interacts with CCNA2 and MTA1. Interacts with NFKB1 NF-kappa-B subunit. Component of
the CENPA-CAD complex, composed of CENPI, CENPK, CENPL, CENPO, CENPP, CENPQ, CENPR and CENPS. The CENPA-CAD
complex interacts with the CENPA-NAC complex, at least composed of CENPA, CENPC, CENPH, CENPM, CENPN, CENPT and
CENPU
Sequence caution: Sequence=AAH14385.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B2R7D8 Q13353 Q5RJ42 Q5RJ44 Q5RJ45 Q7KYX2 Q96CD5 Q9UKB6
Alternative splicing: 5 isoforms:  Q13352-1   Q13352-2   Q13352-3   Q13352-4   Q13352-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ITGB3BP: NX_Q13352

Explore proteomics data for ITGB3BP at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys133
  • Modification sites at PhosphoSitePlus

  • See ITGB3BP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001193668.1  NP_055103.3  

    ENSEMBL proteins: 
     ENSP00000360133   ENSP00000271002   ENSP00000432904   ENSP00000283568  
    Reactome Protein details: Q13352

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR009601 CENP-R

    Graphical View of Domain Structure for InterPro Entry Q13352

    ProtoNet protein and cluster: Q13352

    UniProtKB/Swiss-Prot: CENPR_HUMAN, Q13352
    Domain: The DD1 domain (also called RepD1 domain) mediates the corepressor function and is essential in the
    triggering of apoptosis
    Domain: Contains one Leu-Xaa-Xaa-Leu-Leu (LXXLL) motif, a motif known to be important for the association with
    nuclear receptors. Such motif, which is required for an efficient association with nuclear receptors, is however
    not essential
    Domain: Contains one Leu-Xaa-Xaa-Ile-Leu (LXXIL) motif, which is essential for the association with nuclear
    receptors


    ITGB3BP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CENPR_HUMAN, Q13352
    Function: Transcription coregulator that can have both coactivator and corepressor functions. Isoform 1, but not
    other isoforms, is involved in the coactivation of nuclear receptors for retinoid X (RXRs) and thyroid hormone
    (TRs) in a ligand-dependent fashion. In contrast, it does not coactivate nuclear receptors for retinoic acid,
    vitamin D, progesterone receptor, nor glucocorticoid. Acts as a coactivator for estrogen receptor alpha. Acts as
    a transcriptional corepressor via its interaction with the NFKB1 NF-kappa-B subunit, possibly by interfering with
    the transactivation domain of NFKB1. Induces apoptosis in breast cancer cells, but not in other cancer cells, via
    a caspase-2 mediated pathway that involves mitochondrial membrane permeabilization but does not require other
    caspases. May also act as an inhibitor of cyclin A-associated kinase. Also acts a component of the CENPA-CAD
    (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore
    proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized
    CENPA into centromeres via its interaction with the CENPA-NAC complex
    Induction: By estrogen

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity TAS10490654
    GO:0008022protein C-terminus binding TAS10490654
         
    ITGB3BP for ontologies           About GeneDecksing


    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target ITGB3BP:
    hsa-mir-9-5p (MIRT045781)

    Block miRNA regulation of human, mouse, rat ITGB3BP using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate ITGB3BP:
    hsa-miR-561
    SwitchGear 3'UTR luciferase reporter plasmidITGB3BP 3' UTR sequence
    Inhib. RNA
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    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITGB3BP


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CENPR_HUMAN, Q13352: Isoform 1: Nucleus. Chromosome, centromere. Chromosome, centromere, kinetochore
    CENPR_HUMAN, Q13352: Isoform 2: Nucleus
    CENPR_HUMAN, Q13352: Isoform 3: Nucleus. Cytoplasm. Note=Isoform 3 is predominantly nuclear and weakly
    cytoplasmic
    CENPR_HUMAN, Q13352: Isoform 4: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000777condensed chromosome kinetochore IEA--
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm TAS7593198

    ITGB3BP for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ITGB3BP About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Mitotic Metaphase and Anaphase
    Mitotic Anaphase0.94
    Mitotic Metaphase and Anaphase0.93
    Separation of Sister Chromatids0.94
    2Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    3p75 NTR receptor-mediated signalling
    p75 NTR receptor-mediated signalling0.74
    NRIF signals cell death from the nucleus0.00
    Cell death signalling via NRAGE, NRIF and NADE0.74
    4Packaging Of Telomere Ends
    Chromosome Maintenance0.62
    Deposition of New CENPA-containing Nucleosomes at the Centromere0.59
    Nucleosome assembly0.59
    5Mitotic Prometaphase
    Mitotic Prometaphase0.92
    Resolution of Sister Chromatid Cohesion0.92

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for ITGB3BP
        Cell adhesion Integrin inside-out signaling

    5 Reactome Pathways for ITGB3BP
        NRIF signals cell death from the nucleus
    Resolution of Sister Chromatid Cohesion
    Mitotic Prometaphase
    Separation of Sister Chromatids
    Deposition of new CENPA-containing nucleosomes at the centromere



    ITGB3BP for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including ITGB3BP: 
              Nuclear Receptors & Coregulators in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ITGB3BP

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

    Selected Interacting proteins for ITGB3BP (Q133522, 3 ENSP000002710024) via UniProtKB, MINT, STRING, and/or I2D (see all 72)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARFIP2P533652, 3, ENSP000002545844MINT-68205 I2D: score=5 STRING: ENSP00000254584
    COL4A3BPQ9Y5P42, 3, ENSP000003698624MINT-67876 I2D: score=5 STRING: ENSP00000369862
    DDX24Q9GZR72, 3MINT-65415 I2D: score=5 
    RECQL5O947622, 3MINT-63235 I2D: score=5 
    MAPK6Q166592, 3MINT-8261307 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0006334nucleosome assembly TAS--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0007067mitosis IEA--

    ITGB3BP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ITGB3BP (CENPR)

    1 HMDB Compound for ITGB3BP    About this table
    CompoundSynonyms CAS #PubMed Ids
    Progesterone17a-Progesterone (see all 114)57-83-0--

    3 Novoseek inferred chemical compound relationships for ITGB3BP gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fibrinogen 31.8 1 9182673 (1)
    serine 20.3 1 8939656 (1)
    calcium 0 1 17059412 (1)



    ITGB3BP for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ITGB3BP gene (2 alternative transcripts): 
    NM_001206739.1  NM_014288.4  

    Unigene Cluster for ITGB3BP:

    Integrin beta 3 binding protein (beta3-endonexin)
    Hs.166539  [show with all ESTs]
    Unigene Representative Sequence: BG387615
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000492655 ENST00000371092(uc001dbb.2) ENST00000271002 ENST00000489099(uc001dbc.2 uc001dba.2)
    ENST00000461681 ENST00000463803 ENST00000478538 ENST00000476508 ENST00000460394
    ENST00000462285(uc009wak.1) ENST00000489863 ENST00000465781 ENST00000460251
    ENST00000478138 ENST00000283568
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    1 qRT-PCR Assays for microRNA that regulate ITGB3BP:
    hsa-miR-561
    SwitchGear 3'UTR luciferase reporter plasmidITGB3BP 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat ITGB3BP

    Additional mRNA sequence: 

    AF175306.1 AK309622.1 AK312944.1 BC009929.2 BC014385.1 NR_045147.1 U37139.1 

    20 DOTS entries:

    DT.86853560  DT.121339551  DT.100037033  DT.91770984  DT.91816133  DT.70100152  DT.91770973  DT.102835215 
    DT.102835216  DT.121339540  DT.92036895  DT.99999487  DT.100821955  DT.121339421  DT.40111806  DT.40291902 
    DT.91770986  DT.97820153  DT.100773434  DT.91838081 

    Selected AceView cDNA sequences (see all 168):

    C21180 CB162919 BC009929 BX113691 BG215608 BG184897 CB137424 CA430272 
    CR596268 AW769900 CA425386 BM790968 AA648508 BX394996 AA831178 AA902960 
    CB306917 BM479093 AA455319 BQ955600 AA732664 BQ434716 AA397971 CR602272 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ITGB3BP (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for ITGB3BP

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ITGB3BP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATAAAAGTG
    ITGB3BP Expression
    About this image


    ITGB3BP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter
    ITGB3BP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ITGB3BP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.166539

    UniProtKB/Swiss-Prot: CENPR_HUMAN, Q13352
    Tissue specificity: Widely expressed. Expressed in spleen, thymus, prostate, ovary, small intestine and white
    blood cells. Highly expressed in testis and colon. Isoform 4 is expressed in platelets, lymphocytes and
    granulocytes

        Pathway & Disease-focused RT2 Profiler PCR Array including ITGB3BP: 
              Nuclear Receptors & Coregulators in human mouse rat

    Primer
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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ITGB3BP gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Itgb3bp1 , 5 integrin beta 3 binding protein (beta3-endonexin)1, 5 74.52(n)1
    64.37(a)1
      4 (45.71 cM)5
    677331  NM_026348.31  NP_080624.11 
     997654025 
    chicken
    (Gallus gallus)
    Aves ITGB3BP1 integrin beta 3 binding protein (beta3-endonexin) 57.85(n)
    43.1(a)
      424689  NM_001044658.1  NP_001038123.1 
    lizard
    (Anolis carolinensis)
    Reptilia ITGB3BP6
    integrin beta 3 binding protein (beta3-endonexin)
    38(a)
    1 ↔ 1
    4(99218256-99301970)


    ENSEMBL Gene Tree for ITGB3BP (if available)
    TreeFam Gene Tree for ITGB3BP (if available)

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

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ITGB3BP (see all 1683)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs579592981,2
    C--63907627(+) GGGGTG/-GGTGG 3 -- int11Minor allele frequency- -:0.50CSA 2
    rs38384511,2
    C--63909554(-) TGTCC-/CCCAAGTA 3 -- int10--------
    rs719402771,2
    C--63910250(+) ATAGG-/ATATATA 3 -- int10--------
    rs1122435501,2
    C,F--63910813(+) TCAGCC/TGGGCA 3 -- int12Minor allele frequency- T:0.10CSA WA 120
    rs355829841,2
    C--63910962(+) ACAAA-/CAAA  
            
    ACAAC
    3 -- int10--------
    rs347755661,2
    C--63911048(+) TTGTTT/-ACTAC 3 -- int11Minor allele frequency- -:0.00CSA 2
    rs574294041,2
    C--63911304(+) TCGCT-/CTGTCAC 3 -- int10--------
    rs354526671,2
    C--63911319(+) GGCTGG/-AGTGC 3 -- int11Minor allele frequency- -:0.50NA 2
    rs1118665531,2
    C--63912545(+) GAAAG-/GTTTTT 3 -- int11Minor allele frequency- G:0.00CSA 6
    rs613155171,2
    C--63917204(+) TGAAT-/GT/TG 
            
    ATGAG
    3 -- int11NA 2

    HapMap Linkage Disequilibrium report for ITGB3BP (63906441 - 64059392 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for ITGB3BP:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2749052CNV Deletion23290073
    esv2749041CNV Deletion23290073
    nsv871017CNV Loss21882294
    nsv871689CNV Loss21882294
    nsv870480CNV Loss21882294
    nsv461672CNV Gain19166990
    nsv470714CNV Gain18288195
    nsv830026CNV Gain+Loss17160897
    nsv510935CNV Complex20534489

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ITGB3BP
    DNA2.0 Custom Variant and Variant Library Synthesis for ITGB3BP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605494    OMIM disorders: --

    5 diseases for ITGB3BP:    
    About MalaCards
    breast cancer    thyroiditis    endotheliitis    prostatitis
    neuronitis


    ITGB3BP for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for ITGB3BP gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer 19.3 8 15082778 (5), 17308120 (2), 18521086 (1)

    Genetic Association Database (GAD): ITGB3BP
    Human Genome Epidemiology (HuGE) Navigator: ITGB3BP (1 document)

    Export disorders for ITGB3BP 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)
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    PubMed articles for ITGB3BP gene, integrated from 10 sources (see all 40):
    (articles sorted by number of sources associating them with ITGB3BP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Beta 3-endonexin, a novel polypeptide that interacts specifically with the cytoplasmic tail of the integrin beta 3 subunit. (PubMed id 7593198)1, 2, 3, 9 Shattil S.J.... Ginsberg M.H. (J. Cell Biol. 1995)
    2. NRIF3 is a novel coactivator mediating functional specificity of nuclear hormone receptors. (PubMed id 10490654)1, 2, 3 Li D.... Samuels H.H. (Mol. Cell. Biol. 1999)
    3. Domain structure of the NRIF3 family of coregulators suggests potential dual roles in transcriptional regulation. (PubMed id 11713274)1, 2, 9 Li D.... Samuels H.H. (Mol. Cell. Biol. 2001)
    4. Affinity modulation of platelet integrin alphaIIbbeta3 by beta3- endonexin, a selective binding partner of the beta3 integrin cytoplasmic tail. (PubMed id 9182673)1, 2, 9 Kashiwagi H.... Shattil S.J. (J. Cell Biol. 1997)
    5. The NRIF3 family of transcriptional coregulators induces rapid and profound apoptosis in breast cancer cells. (PubMed id 15082778)1, 2, 9 Li D.... Samuels H.H. (Mol. Cell. Biol. 2004)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. The CENP-H-I complex is required for the efficient incorporation of newly synthesized CENP-A into centromeres. (PubMed id 16622420)1, 2 Okada M.... Fukagawa T. (Nat. Cell Biol. 2006)
    8. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    9. The human CENP-A centromeric nucleosome-associated complex. (PubMed id 16622419)1, 2 Foltz D.R....Cleveland D.W. (Nat. Cell Biol. 2006)
    10. Metastasis-associated protein 1 interacts with NRIF3, an estrogen- inducible nuclear receptor coregulator. (PubMed id 15254226)1, 2 Talukder A.H.... Kumar R. (Mol. Cell. Biol. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    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)
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    Entrez Gene: 23421 HGNC: 6157 AceView: ITGB3BP Ensembl:ENSG00000142856 euGenes: HUgn23421
    ECgene: ITGB3BP H-InvDB: ITGB3BP

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ITGB3BP Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ITGB3BP gene:
    Search GeneIP for patents involving ITGB3BP

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



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