BTK

Summary: 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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
NameBruton tyrosine kinase
OMIM IDMIM:300300
Ensembl IDEnsembl:ENSG00000010671
HGNC IDHGNC:HGNC:1133
PHARMGKB IDPA25454
Map LocationXq22.1

GO terms in BTK


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Term Type
Evidence Type
GO Term ID
GO Des.
MF EXP GO:0004713 protein tyrosine kinase activity
MF TAS GO:0004713 protein tyrosine kinase activity
MF IBA GO:0004715 non-membrane spanning protein tyrosine kinase activity
MF TAS GO:0004715 non-membrane spanning protein tyrosine kinase activity
MF IBA GO:0005102 signaling receptor binding
MF IPI GO:0005515 protein binding
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Gene expression in normal tissue: BTK

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

undefined10RTK signaling2Proteasome1IGFR signaling1Apoptosis regulation1Cell cycle1Other, kinases1

Pathways in BTK


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Database
Pathway ID
Pathway Des.
reactome R-HSA-1236974 ER-Phagosome pathway
reactome R-HSA-1236975 Antigen processing-Cross presentation
reactome R-HSA-1280218 Adaptive Immune System
reactome R-HSA-162582 Signal Transduction
reactome R-HSA-1643685 Disease
reactome R-HSA-166016 Toll Like Receptor 4 (TLR4) Cascade
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD562 Navitoclax 2
iGMDRD506 Fedratinib 2
iGMDRD284 Palbociclib 1
iGMDRD782 DC-45-A2 3
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in BTK

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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