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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Enzymes FDA approved drug targets Human disease related genes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
X
Cytoband
q22.1
Chromosome location (bp)
101349338 - 101390796
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Non-receptor tyrosine kinase indispensable for B lymphocyte development, differentiation and signaling 1. Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation 2. 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 3. PLCG2 phosphorylation is performed in close cooperation with the adapter protein B-cell linker protein BLNK 4. BTK acts as a platform to bring together a diverse array of signaling proteins and is implicated in cytokine receptor signaling pathways 5,6. 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 7. The TLR pathway acts as a primary surveillance system for the detection of pathogens and are crucial to the activation of host defense 8. Especially, is a critical molecule in regulating TLR9 activation in splenic B-cells 9,10. Within the TLR pathway, induces tyrosine phosphorylation of TIRAP which leads to TIRAP degradation 11. BTK also plays a critical role in transcription regulation 12. Induces the activity of NF-kappa-B, which is involved in regulating the expression of hundreds of genes 13. BTK is involved on the signaling pathway linking TLR8 and TLR9 to NF-kappa-B 14. Acts as an activator of NLRP3 inflammasome assembly by mediating phosphorylation of NLRP3 15. Transiently phosphorylates transcription factor GTF2I on tyrosine residues in response to BCR 16. GTF2I then translocates to the nucleus to bind regulatory enhancer elements to modulate gene expression 17. ARID3A and NFAT are other transcriptional target of BTK 18. BTK is required for the formation of functional ARID3A DNA-binding complexes 19. There is however no evidence that BTK itself binds directly to DNA 20. BTK has a dual role in the regulation of apoptosis 21....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Kinase, Transferase, Tyrosine-protein kinase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0001780[neutrophil homeostasis] GO:0001805[positive regulation of type III hypersensitivity] GO:0001812[positive regulation of type I hypersensitivity] GO:0001818[negative regulation of cytokine production] GO:0002250[adaptive immune response] GO:0002344[B cell affinity maturation] GO:0002376[immune system process] GO:0002553[histamine secretion by mast cell] GO:0002639[positive regulation of immunoglobulin production] GO:0002721[regulation of B cell cytokine production] GO:0002755[MyD88-dependent toll-like receptor signaling pathway] GO:0002902[regulation of B cell apoptotic process] GO:0004672[protein kinase activity] GO:0004713[protein tyrosine kinase activity] GO:0004715[non-membrane spanning protein tyrosine kinase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005547[phosphatidylinositol-3,4,5-trisphosphate binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006468[protein phosphorylation] GO:0006915[apoptotic process] GO:0007249[I-kappaB kinase/NF-kappaB signaling] GO:0007498[mesoderm development] GO:0008289[lipid binding] GO:0010033[response to organic substance] GO:0016004[phospholipase activator activity] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0018108[peptidyl-tyrosine phosphorylation] GO:0019722[calcium-mediated signaling] GO:0030167[proteoglycan catabolic process] GO:0030889[negative regulation of B cell proliferation] GO:0030890[positive regulation of B cell proliferation] GO:0031410[cytoplasmic vesicle] GO:0032496[response to lipopolysaccharide] GO:0032693[negative regulation of interleukin-10 production] GO:0032755[positive regulation of interleukin-6 production] GO:0032760[positive regulation of tumor necrosis factor production] GO:0034614[cellular response to reactive oxygen species] GO:0035556[intracellular signal transduction] GO:0038083[peptidyl-tyrosine autophosphorylation] GO:0038095[Fc-epsilon receptor signaling pathway] GO:0042113[B cell activation] GO:0042802[identical protein binding] GO:0043274[phospholipase binding] GO:0045087[innate immune response] GO:0045121[membrane raft] GO:0045579[positive regulation of B cell differentiation] GO:0046777[protein autophosphorylation] GO:0046872[metal ion binding] GO:0048469[cell maturation] GO:0048471[perinuclear region of cytoplasm] GO:0050729[positive regulation of inflammatory response] GO:0050766[positive regulation of phagocytosis] GO:0050853[B cell receptor signaling pathway] GO:0050869[negative regulation of B cell activation] GO:0051092[positive regulation of NF-kappaB transcription factor activity] GO:0061516[monocyte proliferation] GO:0070664[negative regulation of leukocyte proliferation] GO:0071226[cellular response to molecule of fungal origin] GO:0097190[apoptotic signaling pathway] GO:0098761[cellular response to interleukin-7] GO:0150153[positive regulation of interleukin-17A production] GO:1900227[positive regulation of NLRP3 inflammasome complex assembly] GO:1901647[positive regulation of synoviocyte proliferation] GO:1990959[eosinophil homeostasis]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
