BTK Gene (Protein Coding)

Bruton Tyrosine Kinase

GC0XM101349
GIFtS:
53
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. Alternative splicing results in multiple transcript variants encoding different isof... See more...

Aliases for BTK Gene

Aliases for BTK Gene

  • Bruton Tyrosine Kinase 2 3 4 5
  • ATK 2 3 4
  • Bruton Agammaglobulinemia Tyrosine Kinase 2 3
  • Tyrosine-Protein Kinase BTK 3 4
  • Bruton'S Tyrosine Kinase 2 3
  • B-Cell Progenitor Kinase 3 4
  • EC 2.7.10.2 4 51
  • PSCTK1 2 3
  • AGMX1 3 4
  • BPK 3 4
  • XLA 2 3
  • Tyrosine-Protein Kinase BTK Isoform (Lacking Exon 13 To 17) 3
  • Dominant-Negative Kinase-Deficient Brutons Tyrosine Kinase 3
  • Tyrosine-Protein Kinase BTK Isoform (Lacking Exon 14) 3
  • Truncated Bruton Agammaglobulinemia Tyrosine Kinase 3
  • Agammaglobulinaemia Tyrosine Kinase 3
  • Agammaglobulinemia Tyrosine Kinase 4
  • EC 2.7.10 51
  • IGHD3 3
  • IMD1 3
  • BTK 5
  • AT 3

External Ids for BTK Gene

Previous HGNC Symbols for BTK Gene

  • AGMX1
  • IMD1

Previous GeneCards Identifiers for BTK Gene

  • GC0XM095896
  • GC0XM097575
  • GC0XM098640
  • GC0XM099376
  • GC0XM100410
  • GC0XM100491
  • GC0XM100604
  • GC0XM090410

Summaries for BTK Gene

Entrez Gene Summary for BTK Gene

  • 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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]

CIViC Summary for BTK Gene

GeneCards Summary for BTK Gene

BTK (Bruton Tyrosine Kinase) is a Protein Coding gene. Diseases associated with BTK include Agammaglobulinemia, X-Linked and Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia. Among its related pathways are Antigen processing-Cross presentation and B cell receptor signaling pathway (KEGG). Gene Ontology (GO) annotations related to this gene include identical protein binding and protein kinase activity. An important paralog of this gene is TEC.

UniProtKB/Swiss-Prot Summary for BTK Gene

  • 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.

Tocris Summary for BTK Gene

  • 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 initially activated by membrane localization which is stimulated by the generation of PIP3.

Gene Wiki entry for BTK Gene

Additional gene information for BTK Gene

No data available for PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BTK Gene

Genomics for BTK Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for BTK Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH0XJ101390 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 -1.1 -1125 3.4 GATAD2A CTCF PRDM10 ZNF629 REST TFE3 LEF1 IKZF1 ZNF692 POLR2A RPL36A BTK RPL36A-HNRNPH2 ARMCX4 ARMCX2 ARL13A ZMAT1 CENPI PPIAP90 BEX5
GH0XJ101383 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE 608.9 +5.5 5516 3.8 RFX1 IKZF1 POLR2A PRDM1 MTA2 PKNOX1 SMAD5 NR2C1 IKZF2 TRIM22 BTK lnc-BTK-1 lnc-ARMCX4-3 ARMCX4 ARL13A GLA BEX5 ARMCX3 TIMM8A
GH0XJ101381 Promoter 0.3 EPDnew 600.4 +9.8 9762 0.1 RF00017-8592 BTK lnc-ARMCX4-3 lnc-BTK-1 TIMM8A
GH0XJ101346 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 12.5 +42.9 42872 3.8 CREB1 PRDM10 ZNF629 POLR2A ZNF692 LARP7 GABPA PRDM1 ZNF143 RBFOX2 TIMM8A piR-58450-002 ARMCX4 BTK RPL36A BEX5 lnc-BTK-1 TAF7L
GH0XJ100625 Enhancer 0.7 Ensembl 10 +765.0 764995 0.8 TCF12 IKZF2 EED ARID3A DPF2 RUNX3 BCLAF1 CBFB BCL11A IKZF1 BTK LOC105373298 TSPAN6 lnc-SYTL4-2 TNMD
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BTK on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BTK

Top Transcription factor binding sites by QIAGEN in the BTK gene promoter:
  • AREB6
  • C/EBPbeta
  • CREB
  • deltaCREB
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • STAT3

Genomic Locations for BTK Gene

Genomic Locations for BTK Gene
chrX:101,349,447-101,390,796
(GRCh38/hg38)
Size:
41,350 bases
Orientation:
Minus strand
chrX:100,604,435-100,641,212
(GRCh37/hg19)
Size:
36,778 bases
Orientation:
Minus strand

Genomic View for BTK Gene

Genes around BTK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BTK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BTK Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for BTK Gene

Proteins for BTK Gene

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  3. Assay

  • Protein details for BTK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q06187-BTK_HUMAN
    Recommended name:
    Tyrosine-protein kinase BTK
    Protein Accession:
    Q06187
    Secondary Accessions:
    • B2RAW1
    • Q32ML5

    Protein attributes for BTK Gene

    Size:
    659 amino acids
    Molecular mass:
    76281 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Binds GTF2I through the PH domain. Interacts with SH3BP5 via the SH3 domain. Interacts with IBTK via its PH domain. Interacts with ARID3A, CAV1, FASLG, PIN1, TLR8 and TLR9.
    Miscellaneous:
    • [Isoform BTK-C]: Produced by alternative promoter usage. Predominant form in many tumor cells where it may function as an anti-apoptotic cell survival factor.

    Three dimensional structures from OCA and Proteopedia for BTK Gene

    Alternative splice isoforms for BTK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BTK Gene

Protein Expression for BTK Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for BTK Gene

Q06187:
  • RDLAARN
  • KKPLPPTPE
  • EAMEYLE
  • HEKLVQLY
  • LSYYEYD
  • LVQLYGVC
  • YHQHNSAG
  • NGCLLNYL
  • YYLAEKH
  • RLYRPHLA

Post-translational modifications for BTK Gene

  • 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 recruitment.
  • Ubiquitination at Lys322 and Lys406
  • Modification sites at PhosphoSitePlus

Other Protein References for BTK Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for BTK

Domains & Families for BTK Gene

Gene Families for BTK Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for BTK Gene

InterPro:
Blocks:
  • SH2 domain signature
  • Tyrosine protein kinase, active site
  • SH3 domain signature
  • Pleckstrin-like
  • Tec/Btk domain signature
ProtoNet:

Suggested Antigen Peptide Sequences for BTK Gene

GenScript: Design optimal peptide antigens:
  • Bruton tyrosine kinase (BTK_HUMAN)
  • Tyrosine-protein kinase BTK isoform (Lacking exon 14) (Q572P0_HUMAN)
  • Tyrosine-protein kinase BTK isoform (Lacking exon 15 to 18) (Q572P1_HUMAN)
  • Tyrosine-protein kinase BTK isoform (Lacking exon 13 to 17) (Q572P2_HUMAN)
  • Tyrosine-protein kinase BTK isoform 52 (Q572P3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q06187

UniProtKB/Swiss-Prot:

BTK_HUMAN :
  • The PH domain mediates the binding to inositol polyphosphate and phosphoinositides, leading to its targeting to the 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.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. TEC subfamily.
Domain:
  • The PH domain mediates the binding to inositol polyphosphate and phosphoinositides, leading to its targeting to the 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.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. TEC subfamily.
genes like me logo Genes that share domains with BTK: view

Function for BTK Gene

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  2. CRISPR
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Molecular function for BTK Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA-COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.2; Evidence={ECO:0000255|PROSITE-ProRule:PRU10028};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by phosphorylation. In primary B lymphocytes, is almost always non-phosphorylated and is thus 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:
B cell progenitor tyrosine kinase

Enzyme Numbers (IUBMB) for BTK Gene

Gene Ontology (GO) - Molecular Function for BTK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004713 protein tyrosine kinase activity IEA,TAS 11913944
GO:0004715 non-membrane spanning protein tyrosine kinase activity IEA,TAS 19290921
GO:0005515 protein binding IEA,IPI 8892607
genes like me logo Genes that share ontologies with BTK: view
genes like me logo Genes that share phenotypes with BTK: view

Human Phenotype Ontology for BTK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BTK Gene

MGI Knock Outs for BTK:
  • Btk Btk<tm1a(EUCOMM)Hmgu>
  • Btk Btk<tm1Gsv>
  • Btk Btk<tm1Wk>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BTK

Clone Products

  • Addgene plasmids for BTK

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for BTK Gene

Localization for BTK Gene

Subcellular locations from UniProtKB/Swiss-Prot for BTK Gene

Cytoplasm. Cell membrane. Peripheral membrane protein. Nucleus. Note=In steady state, BTK is predominantly 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BTK gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
mitochondrion 3
lysosome 3
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BTK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 19290921
GO:0005737 cytoplasm TAS 15046600
GO:0005829 cytosol IDA,TAS 19290921
GO:0005886 plasma membrane IDA,TAS 19290921
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with BTK: view

Pathways & Interactions for BTK Gene

PathCards logo

SuperPathways for BTK Gene

SuperPathway Contained pathways
1 PEDF Induced Signaling
MIF Mediated Glucocorticoid Regulation
.94
MIF Regulation of Innate Immune Cells
.94
PEDF Induced Signaling
.73
all-trans-Retinoic Acid Signaling in Brain
.71
RAR-Gamma-RXR-Alpha Degradation
.62
IL-6 Pathway
.61
NFAT Signaling and Lymphocyte Interactions
.57
PGC1Alpha Pathway
.51
STAT3 Pathway
.47
Endothelin-1 Signaling Pathway
.46
Glucocorticoid Receptor Signaling
.43
2 Activated TLR4 signalling
Activated TLR4 signalling
.91
Toll Like Receptor 4 (TLR4) Cascade
.91
MyD88-Mal cascade initiated on plasma membrane
.85
Toll Like Receptor 2 (TLR2) Cascade
.85
Toll Like Receptor TLR1-TLR2 Cascade
.85
Toll Like Receptor TLR6-TLR2 Cascade
.85
Toll-Like Receptors Cascades
.82
3 TGF-Beta Pathway
MAPK Family Pathway
.60
TGF-Beta Pathway
.60
JAK-STAT Pathway
.57
JNK Pathway
.51
Regulation of eIF4 and p70S6K
.43
SOCS Pathway
.41
4 Immune response Fc epsilon RI pathway
Immune response BCR pathway
.44
Immune response Fc epsilon RI pathway
.44
Fc epsilon RI signaling pathway
.41
Fc-epsilon receptor I signaling in mast cells
.34
5 Diseases associated with the TLR signaling cascade
Diseases associated with the TLR signaling cascade
.46
Diseases of Immune System
.46
MyD88 deficiency (TLR2/4)
.46
IRAK4 deficiency (TLR2/4)
.01
genes like me logo Genes that share pathways with BTK: view

Pathways by source for BTK Gene

2 Sino Biological pathways for BTK Gene
8 GeneGo (Thomson Reuters) pathways for BTK Gene
  • Development EPO-induced MAPK pathway
  • G-protein signaling G-Protein alpha-12 signaling pathway
  • G-protein signaling G-Protein alpha-q signaling cascades
  • G-protein signaling G-Protein beta/gamma signaling cascades
  • G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins
38 Qiagen pathways for BTK Gene
  • Akt Signaling
  • all-trans-Retinoic Acid Signaling in Brain
  • Antioxidant Action of Vitamin-C
  • Endothelin-1 Signaling Pathway
  • ERK Signaling
2 Cell Signaling Technology pathways for BTK Gene

SIGNOR curated interactions for BTK Gene

Activates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for BTK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001805 positive regulation of type III hypersensitivity IEA --
GO:0001812 positive regulation of type I hypersensitivity IEA --
GO:0001818 negative regulation of cytokine production IEA --
GO:0002250 adaptive immune response TAS 19290921
GO:0002344 B cell affinity maturation IEA --
genes like me logo Genes that share ontologies with BTK: view

Drugs & Compounds for BTK Gene

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  1. Drug

(69) Drugs for BTK Gene - From: DrugBank, ClinicalTrials, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ibrutinib Approved Pharma Target, inhibitor Kinase Inhibitors 0
Zanubrutinib Approved, Investigational Pharma Target, inhibitor 33
Vincristine Approved, Investigational Pharma Microtubule disrupter,antitumor agent 1073
Tyrosine Approved, Investigational Nutra 1044
Acalabrutinib Approved, Investigational Pharma Target, inhibitor 0

(14) Additional Compounds for BTK Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
(-)-Terreic acid
121-40-4
PCI 29732
330786-25-9

(3) Tocris Compounds for BTK Gene

Compound Action Cas Number
(-)-Terreic acid Selective inhibitor of BTK 121-40-4
LFM-A13 Potent, selective BTK inhibitor 62004-35-7
PCI 29732 Potent BTK inhibitor 330786-25-9

(9) ApexBio Compounds for BTK Gene

Compound Action Cas Number
AVL-292 Btk inhibitor 1202757-89-8
Btk inhibitor 1 R enantiomer 1022150-12-4
CGI-1746 Btk inhibitor 910232-84-7
CNX-774 BTK inhibitor, orally active, irreversible and selective 1202759-32-7
LFM-A13 BTK-specific tyrosine kinase inhibitor 244240-24-2
ONO-4059 Highly potent and selective oral Btk inhibitor 1351635-67-0
PCI-32765 (Ibrutinib) Bruton's tyrosine kinase (BTK) inhibitor 936563-96-1
PCI-32765 Racemate BTK inhibitor 936563-87-0
RN486 Btk inhibitor,potent and selective 1242156-23-5
genes like me logo Genes that share compounds with BTK: view

Drug Products

Transcripts for BTK Gene

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mRNA/cDNA for BTK Gene

3 REFSEQ mRNAs :
42 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BTK

Clone Products

  • Addgene plasmids for BTK

Alternative Splicing Database (ASD) splice patterns (SP) for BTK Gene

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: - - - -
SP6:
SP7:
SP8:
SP9: - - - - - - - - - - - -
SP10: -
SP11: - -
SP12:

ExUns: 17 ^ 18 ^ 19a · 19b · 19c ^ 20a · 20b ^ 21a · 21b · 21c · 21d · 21e
SP1: -
SP2: - -
SP3: - -
SP4: - -
SP5:
SP6: - - -
SP7:
SP8: - -
SP9:
SP10:
SP11:
SP12:

Relevant External Links for BTK Gene

GeneLoc Exon Structure for
BTK

Expression for BTK Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BTK Gene

mRNA expression in normal human tissues for BTK Gene
mRNA expression by BioGPS for BTK GenemRNA expression by GTEx for BTK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BTK Gene

This gene is overexpressed in Whole Blood (x13.4) and Spleen (x5.8).

Protein differential expression in normal tissues from HIPED for BTK Gene

This gene is overexpressed in Peripheral blood mononuclear cells (24.0), Lymph node (18.3), Platelet (10.5), and Adipocyte (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BTK Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BTK

SOURCE GeneReport for Unigene cluster for BTK Gene:

Hs.159494

mRNA Expression by UniProt/SwissProt for BTK Gene:

Q06187-BTK_HUMAN
Tissue specificity: Predominantly expressed in B-lymphocytes.

Evidence on tissue expression from TISSUES for BTK Gene

  • Blood(4.7)
  • Lymph node(3.4)
  • Spleen(3.4)
  • Bone marrow(3.3)
  • Intestine(3)
  • Skin(2.7)
  • Lung(2.6)
  • Heart(2.6)
  • Nervous system(2.5)
  • Kidney(2.5)
  • Liver(2.5)
  • Stomach(2.1)
  • Bone(2.1)
  • Muscle(2.1)
  • Pancreas(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BTK Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • pharynx
  • pituitary gland
  • sinus
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
Pelvis:
  • pelvis
  • prostate
  • testicle
  • ureter
  • urethra
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • lymph node
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with BTK: view

No data available for Protein tissue co-expression partners for BTK Gene

Orthologs for BTK Gene

This gene was present in the common ancestor of animals.

Orthologs for BTK Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia BTK 30 31
  • 99.52 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia BTK 31
  • 95 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia BTK 30 31
  • 94.84 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia BTK 30 31
  • 93.73 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia BTK 31
  • 93 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Btk 30 17 31
  • 91.5 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Btk 30
  • 91.1 (n)
Chicken
(Gallus gallus)
 Aves BTK 30 31
  • 79.13 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia BTK 31
  • 78 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia btk 30
  • 69.76 (n)
Zebrafish
(Danio rerio)
 Actinopterygii btk 30 31
  • 65.51 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta Btk29A 31 32
  • 37 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea spe-8 32
  • 31 (a)
F09G2.1 32
  • 31 (a)
kin-24 32
  • 26 (a)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 33 (a)
 ManyToMany
Species where no ortholog for BTK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for BTK Gene

ENSEMBL:
Gene Tree for BTK (if available)
TreeFam:
Gene Tree for BTK (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BTK: view image

Paralogs for BTK Gene

Paralogs for BTK Gene

(58) SIMAP similar genes for BTK Gene using alignment to 9 proteins:

  • BTK_HUMAN
  • Q572P0_HUMAN
  • Q572P1_HUMAN
  • Q572P2_HUMAN
  • Q572P3_HUMAN
  • Q572P4_HUMAN
  • Q572P5_HUMAN
  • Q5JY90_HUMAN
  • U3NG26_HUMAN
genes like me logo Genes that share paralogs with BTK: view

Variants for BTK Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BTK Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
632728 Pathogenic: X-linked agammaglobulinemia; X-linked agammaglobulinemia with growth hormone deficiency 101,374,594(-) ATCT/A INFRAME_DELETION
636441 Likely Pathogenic: not provided 101,356,780(-) T/A INTRON_VARIANT
636572 Likely Pathogenic: not provided 101,353,919(-) T/G MISSENSE_VARIANT
636806 Uncertain Significance: X-linked agammaglobulinemia with growth hormone deficiency; not provided 101,353,259(-) G/A MISSENSE_VARIANT
636945 Likely Pathogenic: not provided 101,374,839(-) T/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for BTK Gene