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Aliases for BTK Gene

Aliases for BTK Gene

  • Bruton Tyrosine Kinase 2 3 4 5
  • Bruton Agammaglobulinemia Tyrosine Kinase 2 3
  • B-Cell Progenitor Kinase 3 4
  • Brutons Tyrosine Kinase 2 3
  • AGMX1 3 4
  • ATK 3 4
  • BPK 3 4
  • 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
  • Tyrosine-Protein Kinase BTK 3
  • EC 2.7.10.2 4
  • PSCTK1 3
  • IMD1 3
  • XLA 3
  • 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. Among its related pathways are Immune response Fc epsilon RI pathway and Akt Signaling. 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 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 , fRNAdb sequence ontologies and piRNA Summary for BTK Gene

Genomics for BTK Gene

GeneHancer (GH) Regulatory Elements for BTK Gene

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
GH0XJ101383 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE 658.9 +5.4 5446 3.6 HDGF HDAC1 PKNOX1 SMAD1 ZNF473 NFRKB IRF4 POLR2B EGR1 ATF7 BTK ARMCX4 ARL13A GLA BEX5 ARMCX3 TIMM8A
GH0XJ101390 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 -1.2 -1153 3.4 HNRNPUL1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 YY1 RPL36A BTK RPL36A-HNRNPH2 ARMCX4 ARL13A ARMCX2 ZMAT1 GLA CENPI PPIAP90
GH0XJ101381 Promoter 0.5 EPDnew 650.4 +9.8 9762 0.1 BTK TIMM8A
GH0XJ101346 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 12.5 +42.5 42472 3 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 POLR2B ZNF213 E2F8 ZNF143 PIR52449 TIMM8A RPL36A ARMCX4 BTK GLA BEX5
GH0XJ101402 Enhancer 0.2 ENCODE 9.7 -12.6 -12596 1.2 BTK BEX5 GLA RPL36A-HNRNPH2
- 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 UCSC Golden Path with GeneCards custom track

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

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 StructureGene Density

RefSeq DNA sequence for BTK Gene

Proteins for BTK Gene

  • 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.

    Three dimensional structures from OCA and Proteopedia for BTK Gene

    Alternative splice isoforms for BTK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BTK Gene

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 its recruitment.
  • Ubiquitination at Lys406 and posLast=322322
  • Modification sites at PhosphoSitePlus

Other Protein References for BTK Gene

Antibody Products

  • Abcam antibodies for BTK

No data available for DME Specific Peptides for BTK Gene

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

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

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:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
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:0004672 protein kinase activity IEA --
GO:0004713 protein tyrosine kinase activity TAS,IEA 11913944
GO:0004715 non-membrane spanning protein tyrosine kinase activity TAS,IEA 19290921
GO:0005102 signaling receptor binding IBA --
GO:0005515 protein binding IPI,IEA 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<tm1Wk>
  • Btk Btk<tm1Gsv>
  • Btk Btk<tm1a(EUCOMM)Hmgu>

Animal Model Products

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 2
lysosome 2
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BTK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus TAS 19290921
GO:0005737 cytoplasm TAS 15046600
GO:0005829 cytosol TAS 19290921
GO:0005886 plasma membrane TAS 19290921
genes like me logo Genes that share ontologies with BTK: view

Pathways & Interactions for BTK Gene

genes like me logo Genes that share pathways with BTK: view

SIGNOR curated interactions for BTK Gene

Activates:
Is activated 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

(60) Drugs for BTK Gene - From: DrugBank, ClinicalTrials, DGIdb, FDA Approved Drugs, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ibrutinib Approved Pharma inhibitor, Target Kinase Inhibitors 0
Acalabrutinib Approved, Investigational Pharma Target, inhibitor 0
Dasatinib Approved, Investigational Pharma Target Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 295
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Everolimus Approved Pharma mTOR inhibitor, mTOR Inhibitors, Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 2011

(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
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
(-)-Terreic acid
121-40-4

(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
genes like me logo Genes that share compounds with BTK: view

Drug Products

Transcripts for BTK Gene

mRNA/cDNA for BTK Gene

Unigene Clusters for BTK Gene

Bruton agammaglobulinemia tyrosine kinase:
Representative Sequences:

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
ECgene alternative splicing isoforms for
BTK

Expression for BTK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of BTK Gene:

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)
  • Bone marrow(2.8)
  • Lymph node(2.7)
  • Spleen(2.7)
  • Intestine(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 34 33
  • 99.52 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BTK 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BTK 34 33
  • 94.84 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BTK 34 33
  • 93.73 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BTK 34
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Btk 16 34 33
  • 91.5 (n)
rat
(Rattus norvegicus)
Mammalia Btk 33
  • 91.1 (n)
chicken
(Gallus gallus)
Aves BTK 34 33
  • 79.13 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BTK 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia btk 33
  • 69.76 (n)
zebrafish
(Danio rerio)
Actinopterygii btk 34 33
  • 65.51 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Btk29A 34 35
  • 37 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea spe-8 35
  • 31 (a)
F09G2.1 35
  • 31 (a)
kin-24 35
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 33 (a)
ManyToMany
Species where no ortholog for BTK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

genes like me logo Genes that share paralogs with BTK: view

Variants for BTK Gene

Sequence variations from dbSNP and Humsavar for BTK Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1034801451 uncertain-significance, X-linked agammaglobulinemia, Isolated Growth Hormone Deficiency 101,386,136(-) C/A 5_prime_UTR_variant, intron_variant
rs104894770 pathogenic, X-linked agammaglobulinemia, not provided, X-linked agammaglobulinemia (XLA) [MIM:300755] 101,353,935(-) C/G coding_sequence_variant, missense_variant
rs1057403 benign, X-linked agammaglobulinemia, Isolated Growth Hormone Deficiency 101,349,693(-) C/T 3_prime_UTR_variant
rs1057515724 uncertain-significance, X-linked agammaglobulinemia, Isolated Growth Hormone Deficiency 101,359,335(-) T/C coding_sequence_variant, synonymous_variant
rs1057519825 likely-pathogenic, Neoplasm of the breast 101,356,176(-) C/G coding_sequence_variant, intron_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for BTK Gene

Variant ID Type Subtype PubMed ID
nsv524411 CNV loss 19592680

Variation tolerance for BTK Gene

Residual Variation Intolerance Score: 28.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.42; 9.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BTK Gene

Human Gene Mutation Database (HGMD)
BTK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BTK

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTK Gene

Disorders for BTK Gene

MalaCards: The human disease database

(28) MalaCards diseases for BTK Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search BTK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BTK_HUMAN
  • X-linked agammaglobulinemia (XLA) [MIM:300755]: 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. {ECO:0000269 PubMed:10220140, ECO:0000269 PubMed:10612838, ECO:0000269 PubMed:10678660, ECO:0000269 PubMed:7627183, ECO:0000269 PubMed:7633420, ECO:0000269 PubMed:7633429, ECO:0000269 PubMed:7711734, ECO:0000269 PubMed:7809124, ECO:0000269 PubMed:7849006, ECO:0000269 PubMed:7849697, ECO:0000269 PubMed:7849721, ECO:0000269 PubMed:7880320, ECO:0000269 PubMed:7897635, ECO:0000269 PubMed:8013627, ECO:0000269 PubMed:8162018, ECO:0000269 PubMed:8162056, ECO:0000269 PubMed:8594569, ECO:0000269 PubMed:8634718, ECO:0000269 PubMed:8695804, ECO:0000269 PubMed:8723128, ECO:0000269 PubMed:8834236, ECO:0000269 PubMed:9016530, ECO:0000269 PubMed:9260159, ECO:0000269 PubMed:9280283, ECO:0000269 PubMed:9445504, ECO:0000269 PubMed:9545398}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • X-linked hypogammaglobulinemia and isolated growth hormone deficiency (XLA-IGHD) [MIM:307200]: In rare cases XLA is inherited together with isolated growth hormone deficiency (IGHD). {ECO:0000269 PubMed:8013627}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for BTK

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BTK: view

No data available for Genatlas for BTK Gene

Publications for BTK Gene

  1. Structures of human Bruton's tyrosine kinase in active and inactive conformations suggest a mechanism of activation for TEC family kinases. (PMID: 20052711) Marcotte DJ … Silvian LF (Protein science : a publication of t