BTK Gene
protein-coding GIFtS : 77
GCID: GC0X M100604
Bruton agammaglobulinemia tyrosine kinase (Previous symbols: AGMX1, IMD1 )
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Aliasesfor BTK gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Bruton Agammaglobulinemia Tyrosine Kinase 1 2 AT2 5 AGMX11 2 3 5 Agammaglobulinaemia Tyrosine Kinase2 ATK1 2 3 Dominant-Negative Kinase-Deficient Brutons Tyrosine Kinase2 IMD11 2 5 Tyrosine-Protein Kinase BTK2 XLA1 2 5 Tyrosine-Protein Kinase BTK Isoform (Lacking Exon 14)2 PSCTK11 2 Agammaglobulinemia Tyrosine Kinase3 BPK2 3 Bruton Tyrosine Kinase3 B-Cell Progenitor Kinase2 3 EC 2.7.108 EC 2.7.10.23 8
Export aliases for BTK gene to outside databases Previous GC identifers: GC0XM095896 GC0XM097575 GC0XM098640 GC0XM099376 GC0XM100410 GC0XM100491 GC0XM090410
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Summariesfor BTK gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
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, Nov 2008) UniProtKB/Swiss-Prot: BTK_HUMAN, Q06187 Function : Non-receptor tyrosine kinase indispensable for B lymphocyte development, differentiation and signaling.Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation. After BCR engagement and activation at the plasma membrane, phosphorylates PLCG2 at several sites, igniting the downstream signaling pathway through calcium mobilization, followed by activation of the protein kinase C (PKC) family members. PLCG2 phosphorylation is performed in close cooperation with the adapter protein B-cell linker protein BLNK. BTK acts as a platform to bring together a diverse array of signaling proteins and is implicated in cytokine receptor signaling pathways. Plays an important role in the function of immune cells of innate as well as adaptive immunity, as a component of the Toll-like receptors (TLR) pathway. The TLR pathway acts as a primary surveillance system for the detection of pathogens and are crucial to the activation of host defense. Especially, is a critical molecule in regulating TLR9 activation in splenic B-cells. Within the TLR pathway, induces tyrosine phosphorylation of TIRAP which leads to TIRAP degradation. BTK plays also a critical role in transcription regulation. Induces the activity of NF-kappa-B, which is involved in regulating the expression of hundreds of genes. BTK is involved on the signaling pathway linking TLR8 and TLR9 to NF-kappa-B. Transiently phosphorylates transcription factor GTF2I on tyrosine residues in response to BCR. GTF2I then translocates to the nucleus to bind regulatory enhancer elements to modulate gene expression. ARID3A and NFAT are other transcriptional target of BTK. BTK is required for the formation of functional ARID3A DNA-binding complexes. There is however no evidence that BTK itself binds directly to DNA. BTK has a dual role in the regulation of apoptosis 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 membranelocalization stimulated by PIP3 generation, and subsequently, by transphosphorylation of Tyr-551 by Srcfamily kinases. Activated BTK is involved in the phosphorylation of a number of signaling molecules involvedin the PLCgamma, JNK and p38 MAPK pathways, leading to Ca2+ mobilization, mRNA stabilization and theinduction of NF-kappaB and AP-1 transcription factors. BTK activity is negatively regulated by a number ofproteins including inhibitor of BTK (IBTK), Sab and c-Cbl. Mutations in this enzyme are known in humans andresult in the immunological disorder X-linked agammaglobulemia. Gene Wiki entry for BTK (Bruton's tyrosine kinase)
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Genomic Viewsfor 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 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_011651.17 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the BTK gene promoter: HOXA9B HOXA9 C/EBPbeta Meis-1b AREB6 CREB deltaCREB STAT3 Meis-1 Other transcription factors Search SABiosciences Chromatin IP Primers for BTK Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BTK
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) GeneLoc information about chromosome X GeneLoc Exon Structure
GeneLoc location for GC0XM100604: view genomic region
(about GC identifiers )
Start:
100,604,435 bp from pter
End:
100,641,212 bp from pter
Size:
36,778 bases
Orientation:
minus strand
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Proteinsfor BTK gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
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: 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 PHdomain. Interacts with ARID3A, CAV1, FASLG, PIN1, TLR8 and TLR9
Subcellular location : Cytoplasm. Cell membrane; Peripheral membrane protein. Nucleus. Note=In steady state, BTK ispredominantly cytosolic. Following B-cell receptor (BCR) engagement by antigen, translocates to the plasma membrane through its PH domain. Plasma membrane localization is a critical step in the activation of BTK. A fraction of BTK also shuttles between the nucleus and the cytoplasm, and nuclear export is mediated by the nuclear export receptor CRM1
6/20 PDB 3D structures from and Proteopedia for BTK (see all 20 ):1AWW (3D)
  1AWX (3D)
  1B55 (3D)
  1BTK (3D)
  1BWN (3D)
  1K2P (3D)
 
Secondary accessions : Q32ML5Explore the universe of human proteins at neXtProt for BTK: NX_Q06187 Post-translational modifications:
Following B-cell receptor (BCR) engagement, translocates to the plasma membrane where it gets phosphorylated at Tyr-551 by LYN and SYK. Phosphorylation at Tyr-551 is followed by autophosphorylation of Tyr-223 which may create a docking site for a SH2 containing protein. Phosphorylation at Ser-180 by PRKCB, leads in translocation of BTK back to the cytoplasmic fraction. Phosphorylation at Ser-21 and Ser-115 creates a binding site for PIN1 at these Ser-Pro motifs, and promotes it's recruitment1
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q06187 4/10 DME Specific Peptides for BTK (Q06187 ) (see all 10 )BTK Protein expression data from MOPED and PaxDb : About this image REFSEQ proteins: NP_000052.1 ENSEMBL proteins: ENSP00000361971 ENSP00000308176 Reactome Protein details: Q06187 Human Recombinant Protein Products for BTK: Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8 ): About this table
BTK for ontologies About GeneDecksing BTK Antibody Products: Assay Products for BTK:
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Protein
Domains / Familiesfor 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 5/11 InterPro domains/families (see all 11 ):
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 Domain : The PH domain mediates the binding to inositol polyphosphate and phosphoinositides, leading to its targeting tothe plasma membrane. It is extended in the BTK kinase family by a region designated the TH (Tec homology) domain, which consists of about 80 residues preceding the SH3 domain Similarity : Belongs to the protein kinase superfamily. Tyr protein kinase family. TEC subfamilySimilarity : Contains 1 Btk-type zinc fingerSimilarity : Contains 1 PH domainSimilarity : Contains 1 protein kinase domainSimilarity : Contains 1 SH2 domainSimilarity : Contains 1 SH3 domain
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Functionfor BTK gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory ,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase ,
shRNA from
OriGene ,
Sirion Biotech ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Sirion Biotech ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
Sirion Biotech ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Molecular Function: UniProtKB/Swiss-Prot Summary: BTK_HUMAN, Q06187 Function : Non-receptor tyrosine kinase indispensable for B lymphocyte development, differentiation and signaling.Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation. After BCR engagement and activation at the plasma membrane, phosphorylates PLCG2 at several sites, igniting the downstream signaling pathway through calcium mobilization, followed by activation of the protein kinase C (PKC) family members. PLCG2 phosphorylation is performed in close cooperation with the adapter protein B-cell linker protein BLNK. BTK acts as a platform to bring together a diverse array of signaling proteins and is implicated in cytokine receptor signaling pathways. Plays an important role in the function of immune cells of innate as well as adaptive immunity, as a component of the Toll-like receptors (TLR) pathway. The TLR pathway acts as a primary surveillance system for the detection of pathogens and are crucial to the activation of host defense. Especially, is a critical molecule in regulating TLR9 activation in splenic B-cells. Within the TLR pathway, induces tyrosine phosphorylation of TIRAP which leads to TIRAP degradation. BTK plays also a critical role in transcription regulation. Induces the activity of NF-kappa-B, which is involved in regulating the expression of hundreds of genes. BTK is involved on the signaling pathway linking TLR8 and TLR9 to NF-kappa-B. Transiently phosphorylates transcription factor GTF2I on tyrosine residues in response to BCR. GTF2I then translocates to the nucleus to bind regulatory enhancer elements to modulate gene expression. ARID3A and NFAT are other transcriptional target of BTK. BTK is required for the formation of functional ARID3A DNA-binding complexes. There is however no evidence that BTK itself binds directly to DNA. BTK has a dual role in the regulation of apoptosis Catalytic activity : ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphateEnzyme regulation : Activated by phosphorylation. In primary B lymphocytes, is almost always non-phosphorylated and isthus catalytically inactive. Stimulation of TLR8 and TLR9 causes BTK activation. As a negative feedback mechanism to fine-tune BCR signaling, activated PRKCB down-modulates BTK function via direct phosphorylation of BTK at Ser-180, resulting in translocation of BTK back to the cytoplasmic fraction. PIN1, SH3BP5, and IBTK were also identified as BTK activity inhibitors. Interaction with CAV1 leads to dramatic down-regulation of the kinase activity of BTK. LFM-13A is a specific inhibitor of BTK. Dasatinib, a cancer drug acting as a tyrosine kinase inhibitor, also blocks BTK activity
Genatlas biochemistry entry for BTK : B cell progenitor tyrosine kinase Enzyme Numbers (IUBMB): EC 2.7.10.2 1 2 EC 2.7.10 2 Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8 ): About this table
BTK for ontologies About GeneDecksing Phenotypes: 6 GenomeRNAi human phenotypes for BTK : 10 MGI mutant phenotypes (inferred from 6 alleles ) (MGI details for Btk) :
BTK for phenotypes About GeneDecksing Animal Models: Mouse knock-out Btk tm1Wk for BTKClone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for BTK (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for BTK (see all 2 )OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: BTK (NM_000061 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BTK Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat BTK
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTK
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Pathways & Interactionsfor BTK gene
(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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/42 super-pathways (see all 42 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 PEDF Induced Signaling 2 TRAF6 Mediated Induction of proinflammatory cytokines 3 TGF-Beta Pathway 4 G-protein signaling_Regulation of p38 and JNK signaling mediated by G-proteins 5 Immune response Fc epsilon RI pathway
Pathway sources See GeneCards unified pathways Show all pathways 5/8 EMD Millipore Pathways for BTK (see all 8 )5/38 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for BTK (see all 38 )2
Cell Signaling Technology (CST) Pathways for BTK 5/8 GeneGo (Thomson Reuters) Pathways for BTK (see all 8 )5/9 BioSystems Pathways for BTK (see all 9 ) 5/17
Reactome Pathways for BTK (see all 17 )4
Kegg Pathways (Kegg details for BTK) :
BTK for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BTK STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/181 Interacting proteins for BTK (Q06187 1 , 2 , 3 ENSP00000308176 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 181 )Interactant Interaction Details GeneCard External ID(s) GTF2I P78347 1 , 2 , 3 , ENSP00000322542 4 EBI-624835,EBI-359622 MINT-7230971 I2D:
score=3 STRING: ENSP00000322542 BLNK Q8WV28 2 , 3 , ENSP00000224337 4 MINT-59470 MINT-59465 MINT-3374560 MINT-3374585 I2D:
score=5 STRING: ENSP00000224337 IBTK Q9P2D0 2 , 3 , ENSP00000305721 4 MINT-49849 MINT-49797 MINT-49799 MINT-49793 I2D:
score=5 STRING: ENSP00000305721 ARID3A Q99856 2 , 3 , ENSP00000263620 4 MINT-7230949 MINT-7230913 MINT-7230932 MINT-7230971 I2D:
score=4 STRING: ENSP00000263620 DAAM1 Q9Y4D1 2 , 3 , ENSP00000247170 4 MINT-7146361 I2D:
score=1 STRING: ENSP00000247170
About this table Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (see all 24 ): About this table
BTK for ontologies About GeneDecksing
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Drugs & Compoundsfor BTK gene (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
BTK for compounds About GeneDecksing
Enzo Life Sciences drugs & compounds for BTK
Compounds for BTK available from Tocris Bioscience About this table Compound Action
CAS
# (-)-Terreic acid Selective inhibitor of BTK [121-40-4] LFM-A13 Potent, selective BTK inhibitor [62004-35-7]
2 HMDB Compounds for BTK About this table 1 DrugBank Compound for BTK About this table 10/36 Novoseek chemical compound relationships for BTK gene (see all 36 ) About this table
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 )
Search CenterWatch for drugs/clinical trials and news about BTK
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Transcriptsfor BTK gene (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 ,
Sirion Biotech ,
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 BTK gene: NM_000061.2 Unigene Cluster for BTK:
Bruton agammaglobulinemia tyrosine kinase Hs.159494 [show with all ESTs ] Unigene Representative Sequence: NM_000061 8 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000372880 (uc010nnn.2 ) ENST00000308731 (uc004ehf.2 uc010nnh.2 uc010nni.2 uc004ehe.2 uc010nnj.2 uc010nnk.2 uc010nnl.2 uc010nnm.2 uc004ehh.1 uc004ehg.2 uc004ehi.3 uc010nno.2 )ENST00000470069 ENST00000488970 ENST00000478995 ENST00000470329 ENST00000464006 ENST00000464567 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for BTK (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for BTK (see all 2 )OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: BTK (NM_000061 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BTK Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat BTK
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 BM458740 BQ059300 BI489714 BP345102 BM925197 AW402365 AI361486 BQ439666 CA435879 BI766828 AA346572 CD365313 BG106420 BM478046 BU619204 BQ642017 N75948 AF153758 AF153760 BE561776 BG256603 AF153761 AF153757 GeneLoc Exon Structure 5/12 Alternative Splicing Database (ASD) splice patterns (SP) for BTK (see all 12 ) About this scheme 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 :                        
ECgene alternative splicing isoforms for BTK
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Expression for BTK gene
(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 BTK expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: GATGAAGAATAbout this image BTK expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table
1 LifeMap In Vivo Development Anatomical Compartment/Cell Tissue Anatomical Compartment
Cell Category (developmental path) Liver Liver Lobule Liver Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
See BTK Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for BTK SOURCE GeneReport for Unigene cluster: Hs.159494 UniProtKB/Swiss-Prot: BTK_HUMAN, Q06187 Tissue specificity : Predominantly expressed in B-lymphocytes SABiosciences Expression via Pathway-Focused PCR Arrays including BTK : Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for BTKBrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat BTK QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat BTK QIAGEN QuantiFast Probe-based Assays in human , mouse , rat BTK In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTK
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Orthologsfor BTK gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl 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 BTK gene from 6/24 species (see all 24 ) About this table
ENSEMBL Gene Tree for BTK (if available)TreeFam Gene Tree for BTK (if available)
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Paralogsfor BTK gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for BTK gene TEC 2 FRK 2 LCK 2 BLK 2 FGR 2 ITK 2 LYN 2 TXK 2 HCK 2 YES1 2 PTK6 2 SRC 2 ABL1 2 FYN 2 BMX 2 ABL2 2 SRMS 2 18/54 SIMAP similar genes for BTK using alignment to 8 protein entries: BTK_HUMAN (see all proteins )
(see all similar genes ):BTK kinase deficient isoform 7 BTK kinase deficient isoform 9 BTK kinase deficient isoform 5 BTK kinase deficient isoform 4 BTK kinase deficient isoform 3 BTK kinase deficient isoform 1 BTK kinase deficient isoform 8 BTK kinase deficient isoform 2 BTK kinase deficient isoform 6 DKFZp686M05208 tec NTRK3 TXK ABL1 NTRK1 c-fgr ALK EML4-ALK
BTK for paralogs About GeneDecksing
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Genomic Variantsfor BTK gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
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
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr X pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for BTK (100604435 - 100641212 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for BTK: -- Human Gene Mutation Database (HGMD) : BTK Locus Specific Mutation Databases (LSDB): BTK SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing BTK
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Disorders
/ Diseasesfor BTK gene
(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
BTK for disorders About GeneDecksing OMIM gene information: 300300 OMIM 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) 20/49 diseases for BTK (see all 49 ): About MalaCards agammaglobulinemia mohr-tranebjaerg syndrome agammaglobulinemia, x-linked 1 isolated growth hormone deficiency growth hormone deficiency isolated growth hormone deficiency type 3 splenic marginal zone lymphoma wiskott-aldrich syndrome common variable immunodeficiency immunodeficiency gamma chain deficiency agammaglobulinemia and isolated hormone deficiency tropical spastic paraparesis paralytic poliomyelitis williams-beuren syndrome congenital hypogammaglobulinemia fabry disease poliomyelitis pyoderma spastic paraparesis 2 diseases from the University of Copenhagen DISEASES database for BTK :Agammaglobulinemia Tropical spastic paraparesis 10/37 Novoseek disease relationships for BTK gene (see all 37 ) About this table
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)
GeneTests: BTK X-Linked Agammaglobulinemia Genetic Association Database (GAD): BTK Human Genome Epidemiology (HuGE) Navigator: BTK (8 documents) Export disorders for BTK gene to outside databases
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Publicationsfor BTK gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for BTK gene, integrated from 9 sources (see all 554 ): (articles sorted by number of sources associating them with BTK) Utopia : connect your pdf to the dynamic world of online information
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) Structure of the PH domain and Btk motif from Bruton's tyrosine kinase: molecular explanations for X-linked agammaglobulinaemia. (PubMed id 9218782) 1 , 2 , 9 Hyvoenen M. and Saraste M. (1997) 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 , 9 Hashimoto S....Kishimoto T. (1996) Mutations in btk in patients with presumed X-linked agammaglobulinemia. (PubMed id 9545398) 1 , 2 , 9 Conley M.E.... Rohrer J. (1998) BAP-135, a target for Bruton's tyrosine kinase in response to B cell receptor engagement. (PubMed id 9012831) 1 , 2 , 9 Yang W. and Desiderio S. (1997) 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 , 9 Saha B.K.... Vihinen M. (1997) Regulation of Btk function by a major autophosphorylation site within the SH3 domain. (PubMed id 8630736) 1 , 2 , 9 Park H....Witte O.N. (1996) Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci. (PubMed id 7626884) 1 , 2 , 9 Oeltjen J.C....Gibbs R.A. (1995) Signaling by Toll-like receptors 8 and 9 requires Bruton's tyrosine kinase. (PubMed id 17932028) 1 , 2 , 9 Doyle S.L....O'Neill L.A. (2007) Bruton's tyrosine kinase is required for TLR2 and TLR4-induced TNF, but not IL-6, production. (PubMed id 16517732) 1 , 2 , 9 Horwood N.J....Foxwell B.M. (2006)
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External Searches for BTK gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing BTK gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing BTK gene
(According to HUGE )
About This Section --
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Specialized Databases showing BTK gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description
PharmGKB entry for BTK Pharmacogenomics, SNPs, Pathways ATLAS Chromosomes in Cancer entry for BTK Genetics and Cytogenetics in Oncology and Haematology BTKbase http://bioinf.uta.fi/BTKbase/ GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BTK
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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
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Productsfor BTK gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 and Sirion Biotech , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript , LifeMap BioReagents , and Sirion Biotech , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences , In Situ Hybridization Assays from Advanced Cell Diagnostics , Animal models from inGenious Targeting Laboratory )About This Section
OriGene Antibodies for BTK OriGene shRNA RFP for BTK OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for BTK OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for BTK OriGene Protein Over-expression Lysate for BTK Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for BTK OriGene 3'-UTR Clone for BTK OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for BTK OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for BTK Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs OriGene Purified Protein for BTK OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for BTK OriGene Custom Protein Services for BTK OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat BTK QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing BTK QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BTK QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat BTK QIAGEN QuantiFast Probe-based Assays in human , mouse , rat BTK QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat BTK
Antibodies & Assays for BTK  
Tocris compounds for BTK
BTK Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTK
ThermoFisher Antibody for BTK
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat BTK
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