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Aliases for BTK Gene

Aliases for BTK Gene

  • Bruton Agammaglobulinemia Tyrosine Kinase 2 3
  • AGMX1 3 4 6
  • B-Cell Progenitor Kinase 3 4
  • EC 2.7.10.2 4 63
  • IMD1 3 6
  • XLA 3 6
  • ATK 3 4
  • BPK 3 4
  • AT 3 6
  • 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
  • Bruton Tyrosine Kinase 4
  • EC 2.7.10 63
  • PSCTK1 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]

GeneCards Summary for BTK Gene

BTK (Bruton Agammaglobulinemia Tyrosine Kinase) is a Protein Coding gene. Diseases associated with BTK include agammaglobulinemia, x-linked 1 and agammaglobulinemia and isolated hormone deficiency. Among its related pathways are PI-3K cascade and Signaling by FGFR. GO annotations related to this gene include identical protein binding and non-membrane spanning protein tyrosine kinase activity. An important paralog of this gene is FER.

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 activated firstly by membrane localization stimulated by PIP3 generation, and subsequently, by transphosphorylation of Tyr-551 by Src family kinases. Activated BTK is involved in the phosphorylation of a number of signaling molecules involved in the PLCgamma, JNK and p38 MAPK pathways, leading to Ca2+ mobilization, mRNA stabilization and the induction of NF-kappaB and AP-1 transcription factors. BTK activity is negatively regulated by a number of proteins including inhibitor of BTK (IBTK), Sab and c-Cbl. Mutations in this enzyme are known in humans and result in the immunological disorder X-linked agammaglobulemia.

Gene Wiki entry for BTK Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BTK Gene

Genomics for BTK Gene

Regulatory Elements for BTK Gene

Genomic Location for BTK Gene

Start:
101,349,447 bp from pter
End:
101,390,796 bp from pter
Size:
41,350 bases
Orientation:
Minus strand

Genomic View for BTK Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Binds 1 zinc ion per subunit.;
    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

Proteomics data for BTK Gene at MOPED

Selected DME Specific Peptides 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 Lys322 and Lys406
  • Modification sites at PhosphoSitePlus

Other Protein References for BTK Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for BTK (Btk)

Domains for BTK Gene

Gene Families for BTK Gene

HGNC:
  • PLEKH :Pleckstrin homology (PH) domain containing
  • SH2D :SH2 domain containing
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

Q06187

UniProtKB/Swiss-Prot:

BTK_HUMAN :
  • Q06187
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.
  • Contains 1 PH domain.
  • Contains 1 protein kinase domain.
  • Contains 1 SH2 domain.
  • Contains 1 SH3 domain.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. TEC subfamily.
Similarity:
  • Contains 1 Btk-type zinc finger.
genes like me logo Genes that share domains with BTK: view

Function for BTK Gene

Molecular function for BTK Gene

GENATLAS Biochemistry: B cell progenitor tyrosine kinase
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.
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.

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 --
GO:0004713 protein tyrosine kinase activity TAS 11913944
GO:0004715 non-membrane spanning protein tyrosine kinase activity TAS 19290921
GO:0005102 NOT receptor binding IBA --
GO:0005515 protein binding IPI 11788586
genes like me logo Genes that share ontologies with BTK: view
genes like me logo Genes that share phenotypes with BTK: view

Animal Models for BTK Gene

MGI Knock Outs for BTK:

Animal Model Products

CRISPR Products

miRNA for BTK Gene

miRTarBase miRNAs that target BTK

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BTK

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting 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
Jensen Localization Image for BTK Gene COMPARTMENTS Subcellular localization image for BTK gene
Compartment Confidence
cytosol 5
nucleus 5
plasma membrane 5
mitochondrion 2
cytoskeleton 1
extracellular 1

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 TAS 19290921
GO:0005886 plasma membrane TAS 19290921
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane IBA --
genes like me logo Genes that share ontologies with BTK: view

Pathways for BTK Gene

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

PCR Array Products

Gene Ontology (GO) - Biological Process for BTK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002224 toll-like receptor signaling pathway TAS --
GO:0002250 adaptive immune response TAS 19290921
GO:0002553 histamine secretion by mast cell IEA --
GO:0002721 regulation of B cell cytokine production TAS 19290921
GO:0002755 MyD88-dependent toll-like receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with BTK: view

Compounds for BTK Gene

Compound Products

(2) 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]

(4) ApexBio Compounds for BTK Gene

Compound Action Cas Number
AVL-292 covalent, highly selective, orally active small molecule inhibitor of Btk [1202757-89-8]
CGI-1746 small-molecule Brutons tyrosine kinase (Btk) inhibitor [910232-84-7]
PCI-32765 (Ibrutinib) inhibitor of Brutons tyrosine kinase (BTK) [936563-96-1]
QL47 inhibits BTK kinase activity [1469988-75-7]

(2) HMDB Compounds for BTK Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0

(1) Drugbank Compounds for BTK Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Inositol 1,3,4,5-Tetrakisphosphate
target

(36) Novoseek inferred chemical compound relationships for BTK Gene

Compound -log(P) Hits PubMed IDs
tyrosine 89 260
phosphatidylinositol-3,4,5-trisphosphate 75.7 7
phosphoinositide 62 17
piceatannol 57.9 1
phosphatidylinositol 57 16
genes like me logo Genes that share compounds with BTK: view

Transcripts for BTK Gene

Unigene Clusters for BTK Gene

Bruton agammaglobulinemia tyrosine kinase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BTK

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for BTK

Flow Cytometry Products

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 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 (13.4) and Spleen (5.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BTK Gene

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

In Situ Assay Products

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 35
  • 99.52 (n)
  • 99.71 (a)
BTK 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BTK 35
  • 93.73 (n)
  • 98.63 (a)
BTK 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BTK 35
  • 94.84 (n)
  • 98.94 (a)
BTK 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Btk 35
  • 91.5 (n)
  • 98.33 (a)
Btk 16
Btk 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BTK 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BTK 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Btk 35
  • 91.1 (n)
  • 98.33 (a)
chicken
(Gallus gallus)
Aves BTK 35
  • 79.13 (n)
  • 86.11 (a)
BTK 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BTK 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia btk 35
  • 69.76 (n)
  • 73.68 (a)
zebrafish
(Danio rerio)
Actinopterygii btk 35
  • 65.51 (n)
  • 65.35 (a)
btk 36
  • 63 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Btk29A 36
  • 37 (a)
OneToMany
Btk29A 37
  • 52 (a)
worm
(Caenorhabditis elegans)
Secernentea kin-24 37
  • 26 (a)
spe-8 37
  • 31 (a)
F09G2.1 37
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
ManyToMany
Species with no ortholog for BTK:
  • 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)

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 Sequence Context AA Info Type MAF
rs1108401 -- 101,356,478(+) AGAAA(A/C)AAGTC intron-variant
rs1135363 -- 101,353,203(-) AGTTG(A/C/T)TGGCA stop-gained, reference, synonymous-codon
rs1883787 -- 101,383,217(+) tatgt(A/G)tgtat intron-variant
rs2071222 -- 101,362,384(-) TCTCC(A/G)AGCTA intron-variant
rs2071223 -- 101,354,559(-) TGTTA(C/T)AGTTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv524411 CNV Loss 19592680

Relevant External Links for BTK Gene

HapMap Linkage Disequilibrium report
BTK
Human Gene Mutation Database (HGMD)
BTK
Locus Specific Mutation Databases (LSDB)
BTK

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

Disorders for BTK Gene

(2) OMIM Diseases for BTK Gene (300300)

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:8634718, ECO:0000269 PubMed:8695804, ECO:0000269 PubMed:8723128, ECO:0000269 PubMed:8834236, 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). Note=The disease may be caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for BTK Gene

(37) Novoseek inferred disease relationships for BTK Gene

Disease -log(P) Hits PubMed IDs
x-linked agammaglobulinemia 98.8 125
agammaglobulinemia 94.2 39
hypogammaglobulinemia 78.6 9
hypogammaglobulinemia x-linked 75.1 2
immunodeficiency 74.7 106

Relevant External Links for BTK

GeneTests
BTK
GeneReviews
BTK
Genetic Association Database (GAD)
BTK
Human Genome Epidemiology (HuGE) Navigator
BTK
genes like me logo Genes that share disorders with BTK: view

Publications for BTK Gene

  1. Identification of Btk mutations in 20 unrelated patients with X- linked agammaglobulinaemia (XLA). (PMID: 7633420) Jin H. … Vetrie D. (Hum. Mol. Genet. 1995) 3 4 23
  2. Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia. (PMID: 7849006) Vihinen M. … Smith C.I.E. (Biochemistry 1995) 3 4 23
  3. Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase. (PMID: 7849697) Conley M.E. … Rohrer J. (Hum. Mol. Genet. 1994) 3 4 23
  4. Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X- linked agammaglobulinemia families. (PMID: 7849721) Zhu Q. … Ochs H.D. (Hum. Mol. Genet. 1994) 3 4 23
  5. Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia. (PMID: 7880320) Hagemann T.L. … Kwan S.-P. (Hum. Mol. Genet. 1994) 3 4 23

Products for BTK Gene

  • Addgene plasmids for BTK

Sources for BTK Gene

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