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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ITGB1BP2 Gene

protein-coding   GIFtS: 51
GCID: GC0XP070521

integrin beta 1 binding protein (melusin) 2

 Explore 4 diseases affiliated with
ITGB1BP2 via our new
 Human Malady Compendium 
Biological research products
for ITGB1BP2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Integrin Beta 1 Binding Protein (Melusin) 21 2
CHORDC31 2
ITGB1BP2
MELUSIN2
Integrin Beta-1-Binding Protein 22
Melusin3

External Ids:    HGNC: 61541   Entrez Gene: 265482   Ensembl: ENSG000001471667   OMIM: 3003325   UniProtKB: Q9UKP33   

Export aliases for ITGB1BP2 gene to outside databases

Previous GC identifers: GC0XP066695 GC0XP067998 GC0XP068754 GC0XP069388 GC0XP070304 GC0XP070438 GC0XP064337


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: ITBP2_HUMAN, Q9UKP3
Function: May play a role during maturation and/or organization of muscles cells




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011669.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ITGB1BP2 gene promoter:
         E2F-4   E2F-3a   E2F-5   E2F-2   NF-kappaB   CREB   E2F   E2F-1   deltaCREB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidITGB1BP2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ITGB1BP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ITGB1BP2


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

Entrez Gene cytogenetic band: Xq12-q13.1   Ensembl cytogenetic band:  Xq13.1   HGNC cytogenetic band: Xq12.1-q13

ITGB1BP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ITGB1BP2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP070521:  view genomic region     (about GC identifiers)

Start:
70,521,584 bp from pter      End:
70,525,221 bp from pter
Size:
3,638 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ITBP2_HUMAN, Q9UKP3 (See protein sequence)
Recommended Name: Integrin beta-1-binding protein 2  
Size: 347 amino acids; 38382 Da
Subunit: Interacts with beta-1 integrin subunit. This interaction is regulated by divalent cations, and it occurs only
in absence of calcium
Secondary accessions: Q549J7

Explore the universe of human proteins at neXtProt for ITGB1BP2: NX_Q9UKP3

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UKP3

  • ITGB1BP2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_036410.1  
    ENSEMBL proteins: 
     ENSP00000362935   ENSP00000440289  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030018Z disc IEA--


    ITGB1BP2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ITGB1BP2 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR007051 CHORD
     IPR008978 HSP20-like_chaperone
     IPR017447 CS_domain
     IPR007052 CS-like_domain

    Graphical View of Domain Structure for InterPro Entry Q9UKP3

    ProtoNet protein and cluster: Q9UKP3

    1 Blocks protein family: IPB007052 CS domain

    UniProtKB/Swiss-Prot: ITBP2_HUMAN, Q9UKP3
    Domain: The tail domain binds to the cytoplasmic domain of both integrin beta-1a and beta-1d isoforms. The presence of
    Ca(2+) ions does not prevent binding of a fragment consisting of the second cysteine rich repeat and the tail domain
    but prevents the binding of the full-length protein
    Similarity: Contains 2 CHORD domains
    Similarity: Contains 1 CS domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: ITBP2_HUMAN, Q9UKP3
    Function: May play a role during maturation and/or organization of muscles cells

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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005178integrin binding IEA--
    GO:0005509calcium ion binding IEA--
    GO:0008270zinc ion binding IEA--
    GO:0017124SH3 domain binding IEA--


    ITGB1BP2 for ontologies           About GeneDecksing


    Animal Models:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Itgb1bp2):
     cardiovascular system  homeostasis/metabolism  mortality/aging 

    ITGB1BP2 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ITGB1BP2

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/6 Interacting proteins for ITGB1BP2 (Q9UKP33 ENSP000003629354) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ECDO959053, ENSP000004015664I2D: score=1 STRING: ENSP00000401566
    SUGT1Q9Y2Z03, ENSP000003672084I2D: score=1 STRING: ENSP00000367208
    HSP90AA1P079003I2D: score=3 
    RARAP102763I2D: score=3 
    RARGP136313I2D: score=3 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction TAS10506186
    GO:0007517muscle organ development TAS10506186


    ITGB1BP2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ITGB1BP2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ITGB1BP2

    1 HMDB Compound for ITGB1BP2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    1 Novoseek chemical compound relationship for ITGB1BP2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 0 2 10506186 (1), 12965203 (1)

    Search CenterWatch for drugs/clinical trials and news about ITGB1BP2 / ITBP2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ITGB1BP2 gene: 
    NM_012278.1  

    Unigene Cluster for ITGB1BP2:

    Integrin beta 1 binding protein (melusin) 2
    Hs.109999  [show with all ESTs]
    Unigene Representative Sequence: BM808220
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373829(uc004dzr.1) ENST00000483897 ENST00000465388 ENST00000475413
    ENST00000538820(uc004dzs.1)

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    Additional cDNA sequence: 

    AF110225.1 AF140690.1 BC108901.2 

    5 DOTS entries:

    DT.111073  DT.111074  DT.121299531  DT.40267729  DT.95126884 

    24/30 AceView cDNA sequences (see all 30):

    AF110225 AA336372 AI568769 BX282304 AF140690 AI052173 AA313760 BP372847 
    NM_012278 AA134808 AW293640 AA971480 AI198447 AA216041 AA134809 AW270091 
    BI915214 AI291780 W92190 F35717 F25233 W94887 AA249107 W72558 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ITGB1BP2    About this scheme

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


    ECgene alternative splicing isoforms for ITGB1BP2

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ITGB1BP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTGTTTTTTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    ITGB1BP2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    8 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbStylopodMesenchymal Condensate CellsBone, Cartilage
    LimbStylopod Synovial JointInterzone CellsCartilage
    LimbZeugopodMesenchymal Condensate CellsBone, Cartilage
    BoneZeugopod Long BoneBone
    LimbAutopodLimb
    LimbStylopodLimb
    LimbStylopod Synovial JointLimb
    LimbZeugopodLimb
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ITGB1BP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ITGB1BP2

    SOURCE GeneReport for Unigene cluster: Hs.109999

    UniProtKB/Swiss-Prot: ITBP2_HUMAN, Q9UKP3
    Tissue specificity: Expressed in skeletal and cardiac muscles but not in other tissues

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    In Situ
    Assay Products:
     

     
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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ITGB1BP2 gene from 8/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Itgb1bp21 , 5 integrin beta 1 binding protein 21, 5 91.04(n)1
    93.64(a)1
      X (44.17 cM)5
    265491  NM_013712.21  NP_038740.11 
     1014490885 
    chicken
    (Gallus gallus)
    Aves ITGB1BP21 integrin beta 1 binding protein (melusin) 2 61.76(n)
    58.53(a)
      422208  XM_420200.3  XP_420200.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    51(a)
    48(a)
    many → 1
    many → 1
    AAWZ02039611(2733-4888)
    GL343599.1(76263-104644)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:924296
    zgc:92429
    40(a)
    1 ↔ 1
    7(24894860-24913075)
    fruit fly
    (Drosophila melanogaster)
    Insecta CHORD3 zinc ion binding 41(a)   95E8   --
    worm
    (Caenorhabditis elegans)
    Secernentea chp-13   -- 33(a)   I(5103811-5104915)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RAR16
    disease resistance protein
    25(a)
    1 → many
    5(21001209-21003205)
    rice
    (Oryza sativa)
    Liliopsida --
    rar1, putative, expressed
    26(a)
    1 → many
    2(19721250-19724020)


    ENSEMBL Gene Tree for ITGB1BP2 (if available)
    TreeFam Gene Tree for ITGB1BP2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ITGB1BP2 gene
    CHORDC12  
    1 SIMAP similar gene for ITGB1BP2 using alignment to 2 protein entries:     ITBP2_HUMAN (see all proteins):
    CHORDC1

    ITGB1BP2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/56 NCBI SNPs in ITGB1BP2 are shown (see all 56    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1505751411,2
    C,--70521634(+) TTTCAA/GTAATC 1 -- ut510--------
    rs1382043461,2
    C,--70521693(+) GGCAGC/TACTTT 2 H Y mis10--------
    rs1865578421,2
    --70521886(+) ACATTA/GTATGG 1 -- int10--------
    rs1914101781,2
    --70521904(+) CCATAA/CATAGA 1 -- int10--------
    rs1428828121,2
    C,--70522084(+) AGAGAG/TAATAC 1 -- int10--------
    rs2019232661,2
    --70522123(+) TGTTAC/TCAGGG 1 -- int10--------
    rs1837431761,2
    C,--70522217(+) CCCCAA/GTAGAA 1 -- int10--------
    rs1493889461,2
    C,F--70522322(+) AGGCCC/TTGCTA 2 P L mis11Minor allele frequency- T:0.00NA 4416
    rs1160579381,2
    C,--70522417(+) GAGGAG/TGAGGC 1 -- int10--------
    rs22941641,2
    H--70522475(+) GGTCAT/CTGAGG 1 -- int14Minor allele frequency- C:0.00NS EA 418

    HapMap Linkage Disequilibrium report for ITGB1BP2 (70521584 - 70525221 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ITGB1BP2
         1 CNV: 7797

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ITGB1BP2 for disorders           About GeneDecksing

    OMIM gene information: 300332    OMIM disorders: --

    4 diseases for ITGB1BP2:    About MalaCards
    limb-girdle muscular dystrophy    muscular dystrophy    cardiomyopathy    hypertension

    2 Novoseek disease relationships for ITGB1BP2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cardiac hypertrophy 54.4 2 12965203 (1), 17468044 (1)
    hypertrophy 47 3 20017903 (1), 18474241 (1), 17468044 (1)

    Human Genome Epidemiology (HuGE) Navigator: ITGB1BP2 (1 document)

    Export disorders for ITGB1BP2 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 ITGB1BP2 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with ITGB1BP2)
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    1. Melusin is a new muscle-specific interactor for beta(1) integrin cytoplasmic domain. (PubMed id 10506186)1, 2, 3, 9 Brancaccio M.... Silengo L. (1999)
    2. Melusin gene (ITGB1BP2) nucleotide variations study i n hypertensive and cardiopathic patients. (PubMed id 20017903)1, 9 Palumbo V....Crovella S. (2009)
    3. Identification of a missense mutation in the melusin-e ncoding ITGB1BP2 gene in a patient with dilated cardiomyopathy. (PubMed id 23124043)1 Ruppert V....Pankuweit S. (2013)
    4. Altered melusin pathways involved in cardiac remodelin g following acute myocardial infarction. (PubMed id 21546274)1 Gu R....Xu B. (2012)
    5. Automated yeast two-hybrid screening for nuclear rece ptor-interacting proteins. (PubMed id 15604093)1 Albers M....Koegl M. (2005)
    6. Sensing heart stress. (PubMed id 12514714)1 Barki-Harrington L. and Rockman H.A. (2003)
    7. The selective regulation of alpha Vbeta 1 integrin expression is based on the hierarchical formation of alpha V-containing heterodimers. (PubMed id 11997396)1 Koistinen P. and Heino J. (2002)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    9. Oncogenic Ki-ras but not oncogenic Ha-ras blocks integrin beta1-chain maturation in colon epithelial cells. (PubMed id 9388239)1 Yan Z....Friedman E. (1997)
    10. Altered melusin expression in the hearts of aortic stenosis patients. (PubMed id 17468044)9 Brokat S....Regitz-Zagrosek V. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 26548 HGNC: 6154 AceView: ITGB1BP2 Ensembl:ENSG00000147166 euGenes: HUgn26548
    ECgene: ITGB1BP2 H-InvDB: ITGB1BP2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ITGB1BP2 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 ITGB1BP2 gene:
    Search GeneIP for patents involving ITGB1BP2

    GeneCards and IP:
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