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IBTK Gene

protein-coding   GIFtS: 60
GCID: GC06M082879

Inhibitor Of Bruton Agammaglobulinemia Tyrosine Kinase

(Previous name: Bruton agammaglobulinemia tyrosine kinase inhibitor)
(Previous symbol: BTKI)
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(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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Aliases
Inhibitor Of Bruton Agammaglobulinemia Tyrosine Kinase1 2     Inhibitor Of Bruton'S Tyrosine Kinase2
BTKI1 2 3     Inhibitor Of Bruton'S Tyrosine Kinase-Alpha2
Bruton Agammaglobulinemia Tyrosine Kinase Inhibitor1 2     Inhibitor Of Bruton'S Tyrosine Kinase-Beta2
BTBD262     Inhibitor Of Bruton'S Tyrosine Kinase-Gamma2
BTK-Binding Protein2     IBtk3
Inhibitor Of Bruton Tyrosine Kinase2     KIAA14173

External Ids:    HGNC: 178531   Entrez Gene: 259982   Ensembl: ENSG000000057007   OMIM: 6064575   UniProtKB: Q9P2D03   

Export aliases for IBTK gene to outside databases

Previous GC identifers: GC06M082833 GC06M082875 GC06M082936 GC06M080097


(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 IBTK Gene:
The protein encoded by this gene binds to Bruton's tyrosine kinase (BTK) and downregulates BTK's kinase activity.
In addition, the encoded protein disrupts BTK-mediated calcium mobilization and negatively regulates the
activation of nuclear factor-kappa-B-driven transcription. (provided by RefSeq, Jul 2008)

GeneCards Summary for IBTK Gene:
IBTK (inhibitor of Bruton agammaglobulinemia tyrosine kinase) is a protein-coding gene. GO annotations related to this gene include protein tyrosine kinase inhibitor activity and protein kinase binding. An important paralog of this gene is SERGEF.

UniProtKB/Swiss-Prot: IBTK_HUMAN, Q9P2D0
Function: Acts as an inhibitor of BTK tyrosine kinase activity, thereby playing a role in B-cell development.
Down-regulates BTK kinase activity, leading to interference with BTK-mediated calcium mobilization and
NF-kappa-B-driven transcription




(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 at NCBI GenBank:
NC_000006.11  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the IBTK gene promoter:
         Bach1   AP-1   NF-YA   NF-YB   Pax-3   CBF-B   CBF-A   CP1A   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIBTK promoter sequence
   Search Chromatin IP Primers for IBTK

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


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

Entrez Gene cytogenetic band: 6q14.1   Ensembl cytogenetic band:  6q14.1   HGNC cytogenetic band: 6q14.3

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

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M082879:  view genomic region     (about GC identifiers)

Start:
82,879,700 bp from pter      End:
82,957,471 bp from pter
Size:
77,772 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: IBTK_HUMAN, Q9P2D0 (See protein sequence)
Recommended Name: Inhibitor of Bruton tyrosine kinase  
Size: 1353 amino acids; 150528 Da
Subunit: Interacts with the PH domain of BTK. Isoform 2 does not interact with BTK
Sequence caution: Sequence=AAG27170.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;
Sequence=BAA92655.2; Type=Erroneous initiation; Sequence=CAI23414.1; Type=Erroneous gene model prediction;
Sequence=CAI23416.1; Type=Erroneous gene model prediction;
Secondary accessions: Q2QKU2 Q2QKU3 Q2QKU4 Q5TFD7 Q5TFD9 Q8IUQ9 Q8IUY7 Q8TAI4 Q9HBI8 Q9Y3T8
Alternative splicing: 3 isoforms:  Q9P2D0-1   Q9P2D0-2   Q9P2D0-3   (Due to a partial intron retention)

Explore the universe of human proteins at neXtProt for IBTK: NX_Q9P2D0

Explore proteomics data for IBTK at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_056340.2  
    ENSEMBL proteins: 
     ENSP00000305721   ENSP00000422136   ENSP00000422762   ENSP00000426405   ENSP00000424634  

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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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    HGNC Gene Families:
    BTBD: BTB/POZ domain containing
    ANKRD: Ankyrin repeat domain containing

    Selected InterPro protein domains (see all 7):
     IPR009091 RCC1/BLIP-II
     IPR000210 BTB/POZ-like
     IPR002110 Ankyrin_rpt
     IPR000408 Reg_chr_condens
     IPR011333 BTB/POZ_fold

    Graphical View of Domain Structure for InterPro Entry Q9P2D0

    ProtoNet protein and cluster: Q9P2D0

    2 Blocks protein domains:
    IPB000210 BTB/POZ domain
    IPB002110 Ankyrin repeat signature


    UniProtKB/Swiss-Prot: IBTK_HUMAN, Q9P2D0
    Similarity: Contains 3 ANK repeats
    Similarity: Contains 2 BTB (POZ) domains
    Similarity: Contains 3 RCC1 repeats


    Find genes that share domains with IBTK           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IBTK_HUMAN, Q9P2D0
    Function: Acts as an inhibitor of BTK tyrosine kinase activity, thereby playing a role in B-cell development.
    Down-regulates BTK kinase activity, leading to interference with BTK-mediated calcium mobilization and
    NF-kappa-B-driven transcription

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0019901protein kinase binding IDA11577348
    GO:0030292protein tyrosine kinase inhibitor activity IDA11577348
         
    Find genes that share ontologies with IBTK           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for IBTK:
     Synthetic lethal with Ras 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ibtk):
     hematopoietic system  immune system 

    Find genes that share phenotypes with IBTK           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for IBTK

    miRNA
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    miRTarBase miRNAs that target IBTK:
    hsa-mir-185-5p (MIRT045378), hsa-mir-16-5p (MIRT051292), hsa-mir-335-5p (MIRT018477)

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    8 qRT-PCR Assays for microRNAs that regulate IBTK:
    hsa-miR-137 hsa-miR-92a hsa-miR-367 hsa-miR-25 hsa-miR-32 hsa-miR-3920 hsa-miR-363 hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidIBTK 3' UTR sequence
    Inhib. RNA
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    (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
    IBTK_HUMAN, Q9P2D0: Cytoplasm. Membrane; Peripheral membrane protein. Note=Translocates to the plasma membrane
    upon IgM stimulation
    IBTK_HUMAN, Q9P2D0: Isoform 2: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    extracellular1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA11577348
    GO:0016020membrane IEA--

    Find genes that share ontologies with IBTK           About GenesLikeMe


    (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 IBTK About    
    See pathways by source

    SuperPathContained pathways About
    1B cell receptor signaling pathway (KEGG)
    BCR signaling pathway0.42


    1 BioSystems Pathway for IBTK
        BCR signaling pathway


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for IBTK
    Interactions:

        GeneGlobe Interaction Network for IBTK

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

    Selected Interacting proteins for IBTK (Q9P2D02, 3 ENSP000003057214) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BTKQ061872, 3, ENSP000003081764MINT-49849 MINT-49797 MINT-49799 MINT-49793 I2D: score=5 STRING: ENSP00000308176
    EIF4A2Q142403, ENSP000003263814I2D: score=1 STRING: ENSP00000326381
    CD2BP2O954003, ENSP000003049034I2D: score=1 STRING: ENSP00000304903
    RGS2P412203, ENSP000002353824I2D: score=2 STRING: ENSP00000235382
    SNRPNP631623I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001933negative regulation of protein phosphorylation IDA11577348
    GO:0051209release of sequestered calcium ion into cytosol IDA11577348
    GO:0061099negative regulation of protein tyrosine kinase activity IDA11577348

    Find genes that share ontologies with IBTK           About GenesLikeMe



    (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 IBTK

    1 HMDB Compound for IBTK    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for IBTK gene: 
    NM_015525.2  

    Unigene Cluster for IBTK:

    Inhibitor of Bruton agammaglobulinemia tyrosine kinase
    Hs.306425  [show with all ESTs]
    Unigene Representative Sequence: DQ005633
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000306270(uc011dyv.1 uc011dyw.1 uc003pjl.1 uc010kbi.1)
    ENST00000505222 ENST00000508381 ENST00000445419(uc011dyu.1) ENST00000503400
    ENST00000503631 ENST00000510291 ENST00000471036 ENST00000369751(uc003pjm.2)

    miRNA
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    8 qRT-PCR Assays for microRNAs that regulate IBTK:
    hsa-miR-137 hsa-miR-92a hsa-miR-367 hsa-miR-25 hsa-miR-32 hsa-miR-3920 hsa-miR-363 hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidIBTK 3' UTR sequence
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    Additional mRNA sequence: 

    AB037838.2 AF235049.1 AJ420588.1 AJ420593.1 AK123460.1 AL050018.1 BC012551.1 BC027483.1 
    BC027490.1 BC035860.1 BC038244.2 BC042171.1 BC092410.1 BC112929.1 BC113696.1 BC113698.1 
    BC143736.1 BC143745.1 BC143748.1 DQ005633.1 DQ005634.1 DQ005635.1 

    9 DOTS entries:

    DT.215574  DT.100660747  DT.101964877  DT.100664129  DT.121309204  DT.100027305  DT.101982561  DT.95179878 
    DT.95179867 

    Selected AceView cDNA sequences (see all 207):

    CD105353 AA406086 AA007454 AK123460 Z41214 T50258 BU178341 CB306037 
    CB266450 CD677578 AI669354 AI827319 AK126777 BI793295 BM142101 AI277356 
    BC038244 AI458423 CA446691 BQ574422 AW673064 AW675297 CB146286 BM670666 

    GeneLoc Exon Structure

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

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^
    SP1:                                                                                                                                                  -         
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                  -                                                         
    SP5:                                                                                                                                                            

    ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b ^ 30
    SP1:                    -           -               
    SP2:                    -           -               
    SP3:                                                
    SP4:                                                
    SP5:                                -               


    ECgene alternative splicing isoforms for IBTK

    (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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    IBTK expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAGCAGATG
    IBTK Expression
    About this image


    IBTK expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Limb (Muscoskeletal System)
             Limb Bud
     
     Testis (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Blood (Hematopoietic System)
             pre Conventional Dendritic Cells Peripheral Blood
    IBTK Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IBTK Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.306425

    UniProtKB/Swiss-Prot: IBTK_HUMAN, Q9P2D0
    Tissue specificity: Expressed in DeFew, HEK293T, HeLa and in Jurkat, MC3 and NB4 lymphoid cells (at protein
    level). Isoform 1 is the predominant isoform expressed in all examined tissues and cell lines. Highly expressed
    in hemopoietic tissues (fetal liver, spleen, lymph node, thymus, peripheral blood leukocytes and bone marrow).
    Weakly or not expressed in other tissues

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IBTK

    (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 animals and fungi.

    Orthologs for IBTK gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ibtk1 , 5 inhibitor of Bruton agammaglobulinemia tyrosine kinase1, 5 85.2(n)1
    86.01(a)1
      9 (46.34 cM)5
    1088371  NM_001081282.21  NP_001074751.11 
     856873615 
    chicken
    (Gallus gallus)
    Aves IBTK1 inhibitor of Bruton agammaglobulinemia tyrosine kinase 74.74(n)
    73.03(a)
      421844  XM_004940418.1  XP_004940475.1 
    lizard
    (Anolis carolinensis)
    Reptilia IBTK6
    inhibitor of Bruton agammaglobulinemia tyrosine ki...
    68(a)
    1 ↔ 1
    1(198153299-198207669)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.162022 Transcribed sequence with weak similarity to protein more 75.91(n)    BX738761.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ibtk1 inhibitor of Bruton agammaglobulinemia tyrosine kinase 60.1(n)
    61.06(a)
      572463  XM_005157859.1  XP_005157916.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG80601 , 3 CG80601 29(a)3
    42.41(n)1
    31.18(a)1
      53B23
    368241  NM_137273.21  NP_611117.21 
    worm
    (Caenorhabditis elegans)
    Secernentea glo-46
    Protein GLO-4 (glo-4) mRNA, complete cds
    13(a)
    1 ↔ 1
    V(9234624-9243164) WBGene00017195
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SRM16
    Nucleotide exchange factor for Gsp1p, localizes to...
    14(a)
    1 → many
    VII(321782-323230) YGL097W


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for IBTK gene
    SERGEF2  RCC22  RCBTB22  WBSCR162  RCC12  RPGR2  RCBTB12  
    4 SIMAP similar genes for IBTK using alignment to 7 protein entries:     IBTK_HUMAN (see all proteins):
    DKFZp761E1322    MTPN    HERC3    RAI14

    Find genes that share paralogs with IBTK           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for IBTK
    PGOHUM00000235047


    (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 IBTK (see all 1634)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1451564971,2
    --82879458(+) AATTAC/TATATA 1 -- ds50010--------
    rs1475838951,2
    C--82879507(+) CTCTGA/GTTGTA 1 -- ds50010--------
    rs69392911,2
    C,F,H--82879574(+) CCCCAT/CCCAAC 1 -- ds500110Minor allele frequency- C:0.09NS EA CSA WA 1382
    rs766903411,2
    F--82879581(+) CAACAA/GAGACC 1 -- ds50011Minor allele frequency- G:0.01EA 120
    rs1159756371,2
    F--82879732(+) GCAACA/GTCAAT 1 -- ds50011Minor allele frequency- G:0.06WA 118
    rs1114660951,2
    C,F--82880047(+) TTTCCG/ATCATT 1 -- ut311Minor allele frequency- A:0.50CSA 2
    rs1850746661,2
    --82880278(+) TATACA/CGTATT 1 -- ut310--------
    rs1448175551,2
    C--82880405(+) ATTTTG/TAAGAT 1 -- ut310--------
    rs1899754351,2
    --82880470(+) TAAAAC/TGCTAT 1 -- ut310--------
    rs1811596401,2
    --82880496(+) CTGTTA/CAGAAT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for IBTK (82879700 - 82957471 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for IBTK:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv5373CNV Insertion18451855
    nsv830715CNV Loss17160897
    nsv7937CNV Loss18304495
    nsv470837CNV Gain18288195
    nsv830713CNV Gain17160897
    nsv510926CNV Complex20534489

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

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

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    OMIM gene information: 606457    OMIM disorders: --


    Find genes that share disorders with IBTK           About GenesLikeMe

    Genetic Association Database (GAD): IBTK

    Export disorders for IBTK 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 IBTK gene, integrated from 10 sources (see all 25):
    (articles sorted by number of sources associating them with IBTK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Direct inhibition of Bruton's tyrosine kinase by IBtk, a Btk-binding protein. (PubMed id 11577348)1, 2, 3, 9 Liu W.... Scala G. (Nat. Immunol. 2001)
    2. Physical and functional characterization of the genetic locus of IBtk, an inhibitor of Bruton's tyrosine kinase: evidence for three protein isoforms of IBtk. (PubMed id 18596081)1, 2, 9 Spatuzza C.... Scala G. (Nucleic Acids Res. 2008)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    5. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    6. The intracellular interactome of tetraspanin-enriched microdomains reveals their function as sorting machineries toward exosomes. (PubMed id 23463506)1 Perez-Hernandez D....YA!A+ez-MA^ M. (J. Biol. Chem. 2013)
    7. Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. (PubMed id 23291589)1 Lu Y....Wong T.Y. (Nat. Genet. 2013)
    8. Protein phosphatase 1I+ interacting proteins in the human brain. (PubMed id 22321011)1 Esteves S.L....da Cruz e Silva E.F. (OMICS 2012)
    9. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    10. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 25998 HGNC: 17853 AceView: IBTK Ensembl:ENSG00000005700 euGenes: HUgn25998
    ECgene: IBTK H-InvDB: IBTK

    (According to HUGE)
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    HUGE: KIAA1417

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for IBTK Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for IBTK gene:
    Search GeneIP for patents involving IBTK

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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