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IBTK Gene

protein-coding   GIFtS: 56

GC06M080097
inhibitor of Bruton agammaglobulinemia tyrosine kinase
(Previous name: Bruton agammaglobulinemia tyrosine kinase inhibitor )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: BTKI)
Products    

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

Aliases & Descriptions
inhibitor of Bruton agammaglobulinemia tyrosine kinase1 2     RP1-93K22.12
Bruton agammaglobulinemia tyrosine kinase inhibitor1 2     BTK-binding protein2
BTKI2 3     MGC1422582
KIAA14172 3     inhibitor of Bruton's tyrosine kinase2
DKFZP564B1161     MGC1422562
inhibitor of Bruton's tyrosine kinase-beta2     inhibitor of Bruton's tyrosine kinase-alpha2
OTTHUMP000002207712     inhibitor of Bruton's tyrosine kinase-gamma2
inhibitor of Bruton tyrosine kinase2     IBtk3
OTTHUMP000002207702     

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

Export aliases for IBTK gene to outside databases

Previous GC identifers: GC06M082833 GC06M082875 GC06M082936 GC06M082879


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

Entrez Gene summary for IBTK:
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)

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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the IBTK gene promoter:
         Cart-1   STAT1beta   STAT1alpha   STAT2   STAT3   STAT4   STAT5A   STAT5B   STAT6   STAT1   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for IBTK

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M080097:  view genomic region     (about GC identifiers)

Start:
80,097,712 bp from pter
End:
80,175,203 bp from pter
Size:
77,492 bases
Orientation:
minus strand

1 alternative location:
Chr6- 82,879,700-82,957,471     
RefSeq DNA sequence:
NC_000006.11  NT_007299.13  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

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
Subcellular location: Cytoplasm. Membrane; Peripheral membrane protein. Note=Translocates to the plasma membrane upon
IgM stimulation
Subcellular location: Isoform 2: Nucleus
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   

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

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_056340.2  

    ENSEMBL proteins: 
    ENSP00000424634 ENSP00000422136 ENSP00000305721 ENSP00000426405 ENSP00000422762 ENSP00000405762 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: IBTK
    GenScript Custom Purified and Recombinant Proteins Services for IBTK 
    Novus Biologicals Lysate for IBTK
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    4 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IDA18029348
    GO:0005730NOT nucleolus IDA18029348
    GO:0005737 cytoplasm IDA11577348
    GO:0016020 membrane IEA--
    About this table

    IBTK for ontologies           About GeneDecksing



    Antibodies for IBTK: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for IBTK
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for IBTK 
    Novus Biologicals Antibody for IBTK
    Browse antibodies at Epitomics

    Assays for IBTK: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for IBTK 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for IBTK 


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

    IBTK for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR000408 Reg_chr_condens
     IPR011333 BTB/POZ_fold
     IPR009091 Reg_csome_cond/b-lactamase_inh
     IPR013069 BTB_POZ
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q9P2D0

    ProtoNet protein and cluster: Q9P2D0

    2 Blocks protein families:
    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


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    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

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for IBTK
    Sigma-Aldrich shRNA for IBTK
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): IBTK
    OriGene shRNA RFP (see all 3): IBTK
    OriGene basic RS shRNA (see all 3): IBTK
    OriGene siRNA: IBTK
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of IBTK 
    miRNA:Sigma-Aldrich microRNA Mimics for IBTK
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of IBTK 
    4 SABiosciences Assays for microRNAs that regulate IBTK:
    hsa-miR-92a hsa-miR-363 hsa-miR-25 hsa-miR-32

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: IBTK
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: IBTK
    OriGene untagged cDNA clones in CMV expression vector: IBTK
    OriGene 3'-UTR clone: IBTK 
    Browse MicroRNA Expression Plasmids 
    GenScript cDNA clone with any tag delivered in your preferred vector: IBTK 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for IBTK 

    3 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515 protein binding IPI11577348
    GO:0019901 protein kinase binding IDA11577348
    GO:0030292 protein tyrosine kinase inhibitor activity IDA11577348
    About this table

    IBTK for ontologies           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section

        SABiosciences Custom Pathway-Focused PCR Arrays for IBTK 

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for IBTK

    5/9 Interacting proteins for IBTK (ENSP000003057213 Q9P2D01, 2) via UniProtKB, MINT, and/or STRING (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BTKQ061871, 2STRING: ENSP00000308176 EBI-1052017,EBI-624835 MINT-49849 MINT-49797 MINT-49799 MINT-49793
    RGS2P412201EBI-1052017,EBI-712388
    SNRPNP631621EBI-1052017,EBI-712493
    BLNKENSP000002243373STRING: ENSP00000224337
    CD79AENSP000002219723STRING: ENSP00000221972
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001933 negative regulation of protein phosphorylation IDA11577348
    GO:0051209 release of sequestered calcium ion into cytosol IDA11577348
    About this table

    IBTK for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section
    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for IBTK


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for IBTK
    Sigma-Aldrich shRNA for IBTK
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): IBTK
    OriGene shRNA RFP (see all 3): IBTK
    OriGene basic RS shRNA (see all 3): IBTK
    OriGene siRNA: IBTK
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of IBTK 
    miRNA: Sigma-Aldrich microRNA Mimics for IBTK
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of IBTK 
    4 SABiosciences Assays for microRNAs that regulate IBTK:
    hsa-miR-92a hsa-miR-363 hsa-miR-25 hsa-miR-32
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: IBTK
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: IBTK
    OriGene untagged cDNA clones in CMV expression vector: IBTK
    OriGene 3'-UTR Clone: IBTK 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript cDNA clone with any tag delivered in your preferred vector: IBTK 
    Primers: OriGene genome-wide validated SYBR primer pairs: IBTK
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for IBTK: PPH16624A

    REFSEQ mRNAs for IBTK gene: 

    NM_015525.2  

    Additional cDNA 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 CR600707.1 DQ005633.1 DQ005634.1 DQ005635.1 

    9 DOTS entries:

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

    24/207 AceView cDNA sequences (see all 207):

    AK126777 CB266563 BI793295 BX955988 T50258 AW673064 BM670666 AL555905 
    BG680523 BU178341 AI669354 CB851543 AI140997 CR600707 AI827319 CA424504 
    CB306037 AA236615 BM142101 CB044949 BM126966 BM718167 Z41214 BC038244 

    highest scoring ESTs for IBTK:

    AI445866 AL050018 BC012551 BF795627 CA407936 AA007318 AA007454 AA194627 AA224232 AA224233 

    Unigene Cluster for IBTK:

    Inhibitor of Bruton agammaglobulinemia tyrosine kinase
    Hs.306425  [show with all ESTs]
    Unigene Representative Sequence: DQ005633


    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for IBTK (see all 6)

    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:                                -               

    About this scheme

    ECgene alternative splicing isoforms for IBTK
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369751(uc003pjm.2) ENST00000445419(uc011dyu.1) ENST00000471036
    ENST00000505222 ENST00000503400 ENST00000306270(uc011dyv.1 uc011dyw.1 uc003pjl.1 uc010kbi.1)
    ENST00000510291 ENST00000503631 ENST00000508381 ENST00000451512

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    IBTK expression in normal and diseased human tissues

    1  / 2  / 3

    6 probe-sets matching IBTK gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    36875_at2, 3 U95-A 1 0.94 1.00 0.65 1.27 AL050018 0.80 1.00 0.91 1
    52482_at2, 3 U95-B 1 0.88 1.00 0.93 0.76 AI445866 0.80 1.00 0.91 1
    210970_s_at2, 3 U133-A 1 1.00 1.00 -- -- AF235049 0.40 1.00 0.76 1
    215086_at2, 3 U133-A 1 0.46 1.00 -- -- AB037838 0.60 0.75 0.68 1
    210970_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    215086_at2 U133Plus2 1 0.46 1.00 -- -- -- -- -- -- --
    About this table

    IBTK for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    IBTK gene expression
    IBTK gene electronic northern expression
    IBTK gene sage expression
    About these images

    CGAP SAGE TAG: TAAGCAGATG

    SOURCE GeneReport for Unigene cluster: Hs.306425

    Expression variation in blood from EXPOLDB for IBTK

    UniProtKB/Swiss-Prot: IBTK_HUMAN, Q9P2D0
    Tissue specificity: Expressed in DeFew, 293T, 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

    Primers: OriGene genome-wide validated SYBR primer pairs: IBTK
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for IBTK: PPH16624A
        SABiosciences Custom PCR Arrays for IBTK 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for IBTK gene from 5/10 species (see all 10)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    IBTK1   -- inhibitor of Bruton agammaglobulinemia tyrosine kinase 92.5(n)
    91.27(a)
    481897  XM_539018.2  XP_539018.2 
    chimpanzee
    (Pan troglodytes)
    IBTK1   -- inhibitor of Bruton agammaglobulinemia tyrosine kinase 99.66(n)
    99.41(a)
    462849  XM_001148806.1  XP_001148806.1 
    cow
    (Bos taurus)
    IBTK1   -- inhibitor of Bruton agammaglobulinemia tyrosine kinase 92.09(n)
    90.53(a)
    540885  XM_613576.3  XP_613576.2 
    mouse
    (Mus musculus)
    Ibtk1 , 5 9 (46.34 cM)5
    inhibitor of Bruton agammaglobulinemia tyrosine kinase1, 5 85.2(n)1
    86.01(a)1
    1088371  NM_001081282.11  NP_001074751.11 
     AA4095025  AK0308955  (see all 16)
    chicken
    (Gallus gallus)
    IBTK1   -- inhibitor of Bruton agammaglobulinemia tyrosine kinase 74.78(n)
    72.98(a)
    421844  XM_419865.2  XP_419865.2 
    About this table        Species with no ortholog for IBTK

    ENSEMBL Gene Tree for IBTK (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for IBTK gene
    RCC22  RCC12  RPGR2  

    IBTK for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/767 NCBI SNPs in IBTK are shown (see all 767)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 6 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs1878491,2
    82928921(+) ggtttC/Gctgca 1 -- int10--------
    rs1918021,2
    --82934978(+) gctgaA/Gatcgc 1 -- int10--------
    rs1972381,2
    C,F,A,82916748(+) gacaaG/Tgacaa 1 -- int114Minor allele frequency- T:0.25NS EA NA WA 688
    rs1972391,2
    82918222(+) gggagA/Gctgag 1 -- int10--------
    rs1972431,2
    C,F,82882851(-) atgccA/Ggctac 1 -- int17Minor allele frequency- G:0.09EA NS NA 190
    rs1972441,2
    H82883157(-) TTTGCA/GGATGC 1 -- int1 spl34Minor allele frequency- G:0.00NS EA 412
    rs1972451,2
    C,F,A,82883238(-) TTACAA/GTTCTT 1 -- int110Minor allele frequency- G:0.17EA NS NA WA 398
    rs1972461,2
    C,F,82883836(-) GCATTG/AGAGCA 1 -- int111Minor allele frequency- A:0.26EA NS NA WA 490
    rs1972471,2
    C,O,H,82884528(-) CTTGTG/TAATCA 1 -- int18Minor allele frequency- T:0.01NA WA 144
    rs1972481,2
    C,A82887427(-) taggcT/Cgggcg 1 -- int14Minor allele frequency- C:0.12NA 8
    About this table

    HapMap Linkage Disequilibrium images for IBTK (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for IBTK
         3 CNVs: 36572 36571 4499

    QIAGEN SeqTarget long-range PCR primers for resequencing IBTK 

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    IBTK for disorders           About GeneDecksing

    OMIM: 606457


    Export disorders and mutations for IBTK gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
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    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
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    10/14 PubMed articles for IBTK gene, integrated from 7 sources (see all 14):
    (articles sorted by number of sources associating them with IBTK)
    1. Direct inhibition of Bruton's tyrosine kinase by IBtk, a Btk-binding protein. (PubMed id 11577348)1, 2, 3, 7 Liu W.... Scala G. (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, 7 Spatuzza C....Scala G. (2008)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    4. 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. (2004)
    5. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    6. 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. (2000)
    7. Computational analysis and in vivo validation of a mi croRNA encoded by the IBTK gene, a regulator of B-lymphocytes differentiation a nd survival. (PubMed id 19782003)1 Fiume G....Quinto I. (2009)
    8. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    9. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    10. Large-scale mapping of human protein-protein interactions by mass spectrometry. (PubMed id 17353931)1 Ewing R.M.... Figeys D. (2007)

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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: 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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
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    Patent Information for IBTK gene:
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