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BTK Gene

protein-coding   GIFtS: 73

GC0XM090410
Bruton agammaglobulinemia tyrosine kinase
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: AGMX1, IMD1)
Products    

Aliases &
Descriptions
for BTK gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases & Descriptions
Bruton agammaglobulinemia tyrosine kinase1 2     IMD12 5
ATK1 2 3     MGC1262612
XLA1 2 5     tyrosine-protein kinase BTK2
AGMX12 3 5     OTTHUMP000000236772
PSCTK11 2     dominant-negative kinase-deficient Brutons tyrosine kinase2
Agammaglobulinaemia tyrosine kinase2 3     MGC1262622
B-cell progenitor kinase2 3     Bruton tyrosine kinase3
BPK2 3     EC 2.7.10.23
AT2 5     

External Ids:    HGNC: 11331   Entrez Gene: 6952   Ensembl: ENSG000000106717   UniProtKB: Q061873   

Export aliases for BTK gene to outside databases

Previous GC identifers: GC0XM095896 GC0XM097575 GC0XM098640 GC0XM099376 GC0XM100410 GC0XM100491 GC0XM100604


Summaries
for BTK gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for BTK:
The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked
agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes,
and associated with a failure of Ig heavy chain rearrangement. (provided by RefSeq)

UniProtKB/Swiss-Prot: BTK_HUMAN, Q06187
Function: Plays a crucial role in B-cell ontogeny. Transiently phosphorylates GTF2I on tyrosine residues in response to
B-cell receptor cross-linking. Required for the formation of functional ARID3A DNA-binding complexes

summary for BTK:
Bruton's Tyrosine Kinase (BTK) is member of the Tec family that is critically important for the growth,
differentiation and activation of myeloid-, mast- and B-cells. BTK is activated firstly by membrane
localization stimulated by PIP3 generation, and subsequently, by transphosphorylation of Tyr-551 by Src
family kinases. Activated BTK is involved in the phosphorylation of a number of signaling molecules involved
in the PLCgamma, JNK and p38 MAPK pathways, leading to Ca2+ mobilization, mRNA stabilization and the
induction of NF-kappaB and AP-1 transcription factors. BTK activity is negatively regulated by a number of
proteins including inhibitor of BTK (IBTK), Sab and c-Cbl. Mutations in this enzyme are known in humans and
result in the immunological disorder X-linked agammaglobulemia.

Gene Wiki entry for BTK (Bruton's tyrosine kinase)

Genomic Views
for BTK 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 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 BTK gene promoter:
         CREB   deltaCREB   NF-kappaB1   STAT3   GATA-2   GATA-1   GATA-3   STAT5A   NF-kappaB   PPAR-gamma2   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for BTK

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 


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

Entrez Gene cytogenetic band: Xq21.33-q22   Ensembl cytogenetic band:  Xq22.1   HGNC cytogenetic band: Xq21.33-q22

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

GeneLoc gene densities for chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM090410:  view genomic region     (about GC identifiers)

Start:
 90,410,583 bp from pter
End:
 90,447,505 bp from pter
Size:
 36,923 bases
Orientation:
 minus strand

1 alternative location:
ChrX- 100,604,435-100,641,212     
RefSeq DNA sequence:
NC_000023.10  NT_011651.17  

Proteins
for BTK gene

(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: BTK_HUMAN, Q06187 (See protein sequence)
Recommended Name: Tyrosine-protein kinase BTK  
Size: 659 amino acids; 76281 Da
Cofactor: Binds 1 zinc ion per subunit
Subunit: Binds GTF2I through the PH domain. Interacts with SH3BP5 via the SH3 domain. Interacts with IBTK via its PH
domain. Interacts with GTF2I and ARID3A
Subcellular location: Cytoplasm (By similarity). Membrane; Peripheral membrane protein (By similarity). Nucleus (By
similarity)
PDB structures from and Proteopedia :
1AWW (3D)    1AWX (3D)    1B55 (3D)    1BTK (3D)    1BWN (3D)    1K2P (3D)    1QLY (3D)    2GE9 (3D)    
2Z0P (3D)    3GEN (3D)    3K54 (3D)    
Secondary accessions: Q32ML5

Explore the universe of human proteins at neXtProt for BTK: NX_Q06187 

Post-translational modifications:

  • Autophosphorylated on Tyr-223 and Tyr-551. Phosphorylation of Tyr-223 may create a docking site for a SH2 containing
    • protein (By similarity)1
  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins: NP_000052.1  

    ENSEMBL proteins: 
    ENSP00000361971 ENSP00000308176 ENSP00000378608 ENSP00000361960 ENSP00000361946 ENSP00000361950 
    ENSP00000416302 ENSP00000361951 


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

    5/6 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 6):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IEA--
    GO:0005737 cytoplasm IEA--
    GO:0005829 cytosol IDA17823121
    GO:0005886 plasma membrane IDA17823121
    GO:0031410 cytoplasmic vesicle IEA--
    About this table

    BTK for ontologies           About GeneDecksing



    Antibodies for BTK: 
    Millipore Mono- and Polyclonal Antibodies for the study of BTK
    Sigma-Aldrich Antibody Arrays and Antibodies for BTK
    R&D Systems Antibodies for BTK
    Cell Signaling Technology (CST) Antibodies for BTK 
    OriGene Antibodies (see all 14): BTK
    GenScript Custom Superior Antibodies Services for BTK 
    Novus Biologicals Antibodies for BTK
    Epitomics antibodies for BTK

    Assays for BTK: 
    Millipore Kits and Assays for the Analysis of BTK
    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 BTK 
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn 

    Protein Domains/
    Families
    for BTK gene

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

    5/13 InterPro domains/families (see all 13):
     IPR017441 Protein_kinase_ATP_BS
     IPR011009 Kinase-like_dom
     IPR001849 Pleckstrin_homology
     IPR001452 SH3_domain
     IPR000719 Prot_kinase_cat_dom

    Graphical View of Domain Structure for InterPro Entry Q06187

    ProtoNet protein and cluster: Q06187

    5 Blocks protein families:
    IPB000980 SH2 domain signature
    IPB001452 SH3 domain signature
    IPB001562 Tec/Btk domain signature
    IPB001849 Pleckstrin-like
    IPB008266 Tyrosine protein kinase


    UniProtKB/Swiss-Prot: BTK_HUMAN, Q06187
    Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family. TEC subfamily
    Similarity: Contains 1 Btk-type zinc finger
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 protein kinase domain
    Similarity: Contains 1 SH2 domain
    Similarity: Contains 1 SH3 domain


    Gene Function
    for BTK gene

    (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: BTK_HUMAN, Q06187
    Function: Plays a crucial role in B-cell ontogeny. Transiently phosphorylates GTF2I on tyrosine residues in response to
    B-cell receptor cross-linking. Required for the formation of functional ARID3A DNA-binding complexes
    Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate
    Enzyme regulation: Inhibited by IBTK. Activated by phosphorylation
    Enzyme Number (IUBMB): EC 2.7.10.2 

    Inhib.
    RNA:            		Millipore RNAi Products for the Analysis of BTK Gene knock-down
    Sigma-Aldrich Nano Scale siRNA for BTK
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for BTK
    Sigma-Aldrich shRNA Panels and shRNA for BTK
    OriGene 29mer shRNA kits in GFP-retroviral vector: BTK
    OriGene shRNA RFP: BTK
    OriGene basic RS shRNA: BTK
    OriGene siRNA: BTK
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of BTK 
    miRNA:Sigma-Aldrich microRNA Mimics for BTK
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of BTK 
    1 SABiosciences Assays for microRNA that regulate BTK:
    hsa-miR-622

    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: BTK
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: BTK
    OriGene untagged cDNA clones in CMV expression vector (see all 2): BTK
    OriGene 3'-UTR clone: BTK 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for BTK 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:          		GenScript Custom overexpressing Cell Line Services for BTK 

    Genatlas biochemistry entry for BTK:
    B cell progenitor tyrosine kinase

    5/12 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 12):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0004672 protein kinase activity ----
    GO:0004674 protein serine/threonine kinase activity ----
    GO:0004713 protein tyrosine kinase activity TAS11913944
    GO:0004715 non-membrane spanning protein tyrosine kinase activity IEA--
    About this table

    BTK for ontologies           About GeneDecksing

    Animal Models: 5 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Btk):

    digestive/alimentaryhematopoietic systemhomeostasis/metabolismimmune systemtumorigenesis

    BTK for phenotypes           About GeneDecksing


    Pathways & Interactions
    for BTK gene

    (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


    BTK for pathways           About GeneDecksing

    5/8 Millipore Pathways for BTK (see all 8)
        G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins
    G-protein signaling G-Protein alpha-12 signaling pathway
    Immune response NFAT in immune response
    Immune response Fc epsilon RI pathway
    G-protein signaling G-Protein beta/gamma signaling cascades

    5/12 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  BTK (see all 12)
        Primary Immunodeficiency Signaling
    Leukocyte Extravasation Signaling
    Fc Epsilon RI Signaling
    PI3K Signaling in B Lymphocytes
    Phospholipase C Signaling

    4 Cell Signaling Technology (CST) Pathways for BTK
        Translational Control: Regulation of eIF4E and p70 S6 Kinase
    NF-kB Signaling
    B Cell Receptor Signaling
    Protein Acetylation

    3 Kegg Pathways  (Kegg details for BTK):
        hsa04662 B cell receptor signaling pathway
    hsa04664 Fc epsilon RI signaling pathway
    hsa05340 Primary immunodeficiency

        SABiosciences Pathway-Focused PCR Arrays including BTK (see all 3): PAHS-018A PAHS-058A  

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for BTK
        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BTK

    5/56 Interacting proteins for BTK (ENSP000003081763 Q061871, 2) via UniProtKB, MINT, and/or STRING (see all 56)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IBTKQ9P2D01, 2STRING: ENSP00000305721 EBI-624835,EBI-1052017 MINT-49849 MINT-49797 MINT-49799 MINT-49793
    GTF2IP783471, 2STRING: ENSP00000322542 EBI-624835,EBI-359622 MINT-7230971
    BTKQ061871, 2EBI-624835,EBI-624835 MINT-14087
    FCER1GP302731STRING: ENSP00000356971 EBI-624835,EBI-515289
    SH3BP5O602391STRING: ENSP00000253688 EBI-624835,EBI-624860
    About this table

    5/9 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 9):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468 protein phosphorylation TAS11913944
    GO:0007165 signal transduction IEA--
    GO:0007249 I-kappaB kinase/NF-kappaB cascade IEA--
    GO:0007498 mesoderm development TAS8013627
    GO:0008624 induction of apoptosis by extracellular signals TAS8688094
    About this table

    BTK for ontologies           About GeneDecksing



    Drugs & Compounds
    for BTK gene

    (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

    BTK for compounds           About GeneDecksing

    Sigma-Aldrich Small Molecules for BTK:
    Small Molecule - Inhibitor
    Enzo Life Sciences drugs & compounds for BTK

    Compounds for BTK available from Tocris Bioscience
    CompoundAction CAS number
    (-)-Terreic acidSelective inhibitor of BTK[121-40-4]
    LFM-A13 Potent, selective BTK inhibitor [62004-35-7]
    About this table


    10/36 Novoseek chemical compound relationships for BTK gene (see all 36)
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 89 1216 11413148 (5), 12437073 (5), 7565679 (5), 10051622 (4) (see all 99)
    phosphatidylinositol-3,4,5-trisphosphate 75.7 10 11279148 (2), 10201980 (2), 11698416 (1), 12734372 (1) (see all 5)
    phosphoinositide 62 19 9928954 (3), 16619289 (3), 11756681 (2), 11329620 (1) (see all 12)
    piceatannol 57.9 1 15180535 (1)
    phosphatidylinositol 57 21 12215216 (2), 10201980 (2), 14610042 (1), 18657320 (1) (see all 14)
    leflunomide 48.4 9 12188892 (1), 17469650 (1), 10092645 (1), 9880544 (1) (see all 6)
    inositol 1,4,5 trisphosphate 43.8 6 9830001 (1), 10327049 (1), 16547971 (1), 17237388 (1) (see all 5)
    phosphotyrosine 42.1 5 10754312 (2), 10051622 (1), 9391111 (1), 7657668 (1)
    inositol 1,3,4,5-tetrakisphosphate 41.8 3 8939985 (2), 10196129 (1)
    wortmannin 34.8 11 10840066 (2), 11329620 (1), 16619289 (1), 10590061 (1) (see all 6)
    About this table



    Transcripts
    for BTK gene

    (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:             		Millipore RNAi Products for the Analysis of BTK Gene knock-down
    Sigma-Aldrich Nano Scale siRNA for BTK
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for BTK
    Sigma-Aldrich shRNA Panels and shRNA for BTK
    OriGene 29mer shRNA kits in GFP-retroviral vector: BTK
    OriGene shRNA RFP: BTK
    OriGene basic RS shRNA: BTK
    OriGene siRNA: BTK
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of BTK 
    miRNA: Sigma-Aldrich microRNA Mimics for BTK
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of BTK 
    1 SABiosciences Assays for microRNA that regulate BTK:
    hsa-miR-622
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: BTK
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: BTK
    OriGene untagged cDNA clones in CMV expression vector (see all 2): BTK
    OriGene 3'-UTR Clone: BTK 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for BTK 
    Primers: OriGene genome-wide validated SYBR primer pairs: BTK
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for BTK: PPH00086A

    REFSEQ mRNAs for BTK gene: 

    NM_000061.2  

    Additional cDNA sequence: 

    AF153364.1 AF153755.1 AF153756.1 AF153757.1 AF153758.1 AF153759.1 AF153760.1 AF153761.1 
    AF153762.1 AF153763.1 AF153764.1 AJ888376.1 AJ888377.1 AJ888378.1 AJ888379.1 AJ888380.1 
    AJ888381.1 AK057105.1 AK225577.1 AK309851.1 AK314382.1 AM051275.1 AM051276.1 AM051277.1 
    AM051278.1 AM051279.1 AM051280.1 AM051281.1 AM051282.1 AM051283.1 AM051284.1 AM051285.1 
    AM051286.1 BC109079.1 BC109080.1 X58957.1 

    9 DOTS entries:

    DT.444365  DT.95165288  DT.121325060  DT.432796  DT.86849846  DT.91687758  DT.121325046  DT.112417 
    DT.446289 

    24/98 AceView cDNA sequences (see all 98):

    BF795127 BP345102 CD365313 BM478046 BI489714 BM458740 AI361486 CA435879 
    BI766828 AW402365 BM925197 BG106420 BQ642017 BU619204 BQ059300 BQ439666 
    AA346572 N59731 AF153760 N57766 BE561776 BI909219 AW138954 BG256603 

    highest scoring ESTs for BTK:

    AA346572 AK057105 AL602325 AU100119 AW402365 BE267612 BE560390 BE560685 BE561034 BE561776 

    Unigene Cluster for BTK:

    Bruton agammaglobulinemia tyrosine kinase
    Hs.159494  [show with all ESTs]
    Unigene Representative Sequence: NM_000061


    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for BTK (see all 12)

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

    ExUns: 17 ^ 18 ^ 19a · 19b · 19c ^ 20a · 20b ^ 21a · 21b · 21c · 21d · 21e
    SP1:              -                                                         
    SP2:  -           -                                                         
    SP3:              -                       -                                 
    SP4:        -     -                                                         
    SP5:                                                                        

    About this scheme

    ECgene alternative splicing isoforms for BTK
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000488970 ENST00000478995 ENST00000470329 ENST00000470069 ENST00000372880(uc010nnn.2)
    ENST00000308731(uc004ehe.2 uc010nnj.2 uc010nnm.2 uc004ehh.1 uc004ehg.2 uc004ehi.2 uc010nno.2)
    ENST00000395179(uc010nni.2) ENST00000464006 ENST00000372869 ENST00000372855(uc004ehf.2)
    ENST00000372859(uc010nnh.2) ENST00000464567 ENST00000443591 ENST00000372860(uc010nnk.2 uc010nnl.2)


    Expression
    for BTK gene

    (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

    BTK expression in normal and diseased human tissues

    1  / 2  / 3

    4 probe-sets matching BTK gene

    Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    38213_at2, 3 U95-A 1 1.00 1.00 0.96 0.98 U78027 0.20 0.50 0.38 1
    71820_at2, 3 U95-E 1 0.38 1.00 0.90 1.03 AA676706 0.60 1.00 0.82 1
    205504_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000061 0.60 1.00 0.82 1
    205504_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table

    BTK for expression           About GeneDecksing

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

    CGAP SAGE TAG: GATGAAGAAT

    SOURCE GeneReport for Unigene cluster: Hs.159494

    Expression variation in blood from EXPOLDB for BTK

    Primers: OriGene genome-wide validated SYBR primer pairs: BTK
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for BTK: PPH00086A
        SABiosciences Expression via Pathway-Focused PCR Arrays including BTK (see all 3): PAHS-018A PAHS-058A  


    Orthologs
    for BTK gene

    (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 BTK gene from 5/9 species (see all 9)
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 BTK1   -- Bruton agammaglobulinemia tyrosine kinase 94.59(n)
    98.63(a)    		 492019  XM_856738.1  XP_861831.1 
    chimpanzee
    (Pan troglodytes)    		 BTK1   -- Bruton agammaglobulinemia tyrosine kinase 99.18(n)
    99.08(a)    		 465759  XM_001138546.1  XP_001138546.1 
    cow
    (Bos taurus)    		 BTK1   -- Bruton agammaglobulinemia tyrosine kinase 93.68(n)
    98.63(a)    		 533459  NM_001034589.1  NP_001029761.1 
    rat
    (Rattus norvegicus)    		 Btk1   -- Bruton agammaglobulinemia tyrosine kinase 91.05(n)
    98.33(a)    		 367901  NM_001007798.1  NP_001007799.1 
    mouse
    (Mus musculus)    		 Btk1 , 5 X (56.18 cM)5
    		 Bruton agammaglobulinemia tyrosine kinase1, 5 91.4(n)1
    98.18(a)1    		 122291  NM_013482.11  NP_038510.11 
     AI5286795  BC0533925  (see all 29)
    About this table        Species with no ortholog for BTK

    ENSEMBL Gene Tree for BTK (if available)

    Paralogs
    for BTK gene

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for BTK gene
    TEC2  ITK2  PTK62  TXK2  ABL12  BMX2  ABL22  SRMS2  

    BTK for paralogs           About GeneDecksing



    Genomic Variants
    for BTK gene

    (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

    10/219 NCBI SNPs in BTK are shown (see all 219)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr X posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ----------
    rs11084011,2
    		C100611466(+) AGAAAA/CAAGTC 1 -- int10--------
    rs11353631,2
    		C,F,100608191(-) AGTTGA/C/TTGGCA 3 X C 1 ref1 syn110NS EA NA WA 631
    rs18837871,2
    		C,A100638205(+) tatgtA/Gtgtat 1 -- int13Minor allele frequency- G:0.00NA EA 252
    rs20712221,2
    		C,F,A,H,100617372(-) tctccG/Aagcta 1 -- int19Minor allele frequency- A:0.24NS EA NA WA 425
    rs20712231,2
    		C,F,O,A,100609547(-) TGTTAT/CAGTTT 1 -- int116Minor allele frequency- C:0.26NS EA NA WA 936
    rs20712291,2
    		C,F100641574(-) ACGCTC/TTTCCT 1 -- ng515Minor allele frequency- T:0.12NS EA NA 419
    rs22389821,2
    		C,F,H100640802(-) GGTGAC/TCATCC 1 -- int14Minor allele frequency- T:0.01NS EA 416
    rs22389831,2
    		C,F,100639887(-) AGAATA/GAAAGT 1 -- int110Minor allele frequency- G:0.10NS EA NA WA 741
    rs22389841,2
    		C,F,A,100639801(-) TAAAAT/CAATGT 1 -- int16Minor allele frequency- C:0.35NS EA NA WA 421
    rs22389851,2
    		C,F,100631973(-) CCCCTG/TGTGTT 1 -- int14Minor allele frequency- T:0.27NS EA 418
    About this table

    HapMap Linkage Disequilibrium images for BTK (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for BTK: --

    QIAGEN SeqTarget long-range PCR primers for resequencing BTK 

    Disorders & Mutations
    for BTK gene

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

    OMIM: 300300   disorders: 300755  307200  

    UniProtKB/Swiss-Prot: BTK_HUMAN, Q06187

  • Defects in BTK are the cause of X-linked agammaglobulinemia (XLA) [MIM:300755]; also known as X-linked
    • agammaglobulinemia type 1 (AGMX1) or immunodeficiency type 1 (IMD1). XLA is a humoral immunodeficiency disease which
    results in developmental defects in the maturation pathway of B-cells. Affected boys have normal levels of pre-B-cells
    in their bone marrow but virtually no circulating mature B-lymphocytes. This results in a lack of immunoglobulins of
    all classes and leads to recurrent bacterial infections like otitis, conjunctivitis, dermatitis, sinusitis in the
    first few years of life, or even some patients present overwhelming sepsis or meningitis, resulting in death in a few
    hours. Treatment in most cases is by infusion of intravenous immunoglobulin
  • Defects in BTK may be the cause of X-linked hypogammaglobulinemia and isolated growth hormone deficiency
    • (XLA-IGHD) [MIM:307200]; also known as agammaglobulinemia and isolated growth hormone deficiency or Fleisher syndrome
    or isolated growth hormone deficiency type 3 (IGHD3). In rare cases XLA is inherited together with isolated growth
    hormone deficiency (IGHD)

    10/37 Novoseek disease relationships for BTK gene (see all 37)

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    x-linked agammaglobulinemia 98.8 328 9445504 (2), 17301411 (2), 8162056 (2), 18726917 (2) (see all 99)
    agammaglobulinemia 94.2 70 11577078 (3), 8090769 (2), 11698416 (2), 8934542 (2) (see all 33)
    hypogammaglobulinemia 78.6 14 11668622 (1), 16862044 (1), 16053733 (1), 19067895 (1) (see all 9)
    hypogammaglobulinemia x-linked 75.1 3 16264330 (1), 8364206 (1)
    immunodeficiency 74.7 167 7946052 (3), 10844531 (2), 8939985 (2), 10068673 (2) (see all 96)
    common variable immunodeficiency 70.7 6 10844531 (1), 11472409 (1), 17024564 (1), 18051214 (1) (see all 5)
    mohr-tranebjaerg syndrome 69.3 1 17851739 (1)
    wiskott-aldrich syndrome 56.2 6 11557038 (1), 16460447 (1), 10068673 (1), 9191173 (1)
    leukemia mast cell 55.7 1 8283037 (1)
    hyper-igm syndrome 54.5 2 11987983 (1)
    About this table

    1 PharmGKB disease relationship for BTK gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Leukemia, Lymphocytic, Acute, L1FA  GN  12730115
    About this table

    GeneTests: BTK
    X-Linked Agammaglobulinemia

    Locus Specific Mutation Databases (LSDB): BTK
    Human Gene Mutation Database (HGMD): BTK
    Genetic Association Database (GAD): BTK
    Human Genome Epidemiology (HuGE) Navigator: BTK (7 documents)

    Export disorders and mutations for BTK gene to outside databases

    Medical News
    for BTK gene

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    Publications
    for BTK gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/524 PubMed articles for BTK gene, integrated from 7 sources (see all 524):
    (articles sorted by number of sources associating them with BTK)
    1. The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. (PubMed id 8380905)1, 2, 3 Vetrie D.... Bentley D.R. (1993)
    2. Structure of the PH domain and Btk motif from Bruton's tyrosine kinase: molecular explanations for X-linked agammaglobulinaemia. (PubMed id 9218782)1, 2, 7 Hyvoenen M. and Saraste M. (1997)
    3. Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan. (PubMed id 8695804)1, 2, 7 Hashimoto S....Kishimoto T. (1996)
    4. Mutations in btk in patients with presumed X-linked agammaglobulinemia. (PubMed id 9545398)1, 2, 7 Conley M.E.... Rohrer J. (1998)
    5. BAP-135, a target for Bruton's tyrosine kinase in response to B cell receptor engagement. (PubMed id 9012831)1, 2, 7 Yang W. and Desiderio S. (1997)
    6. Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia. (PubMed id 9260159)1, 2, 7 Saha B.K.... Vihinen M. (1997)
    7. Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci. (PubMed id 7626884)1, 2, 7 Oeltjen J.C....Gibbs R.A. (1995)
    8. Direct inhibition of Bruton's tyrosine kinase by IBtk, a Btk-binding protein. (PubMed id 11577348)1, 2, 7 Liu W.... Scala G. (2001)
    9. Identification and characterization of a novel SH3-domain binding protein, Sab, which preferentially associates with Bruton's tyrosine kinase (Btk). (PubMed id 9571151)1, 2, 7 Matsushita M.... Tsukada S. (1998)
    10. Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase. (PubMed id 7849697)1, 2, 7 Conley M.E....Rohrer J. (1994)

    External Searches for BTK gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing BTK gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 695 HGNC: 1133 AceView: BTK Ensembl:ENSG00000010671 euGenes: HUgn695
    ECgene: BTK Kegg: 695 H-InvDB: BTK

    Other Databases showing BTK gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing BTK gene

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    ATLAS Chromosomes in Cancer entry for BTK Genetics and Cytogenetics in Oncology and Haematology
    BTKbasehttp://bioinf.uta.fi/BTKbase/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BTK

    Intellectual Property
    for BTK gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    		Patent Information for BTK gene:
    Search GeneIP for patents involving BTK

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



    Products
    for BTK gene

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    Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or Enzo Life Sciences)
    About This Section

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