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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]
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 Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway and TGF-Beta Pathway. Gene Ontology (GO) annotations related to this gene include identical protein binding and protein kinase activity. An important paralog of this gene is TEC.
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.
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 | IEA,TAS | 19290921 |
GO:0005515 | protein binding | IPI,IEA | 8892607 |
GO:0005524 | ATP binding | IEA,TAS | 11913944 |
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:0016020 | membrane | IEA | -- |
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 | ||
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
.40
|
4 | Immune response Fc epsilon RI pathway | ||
5 | Diseases associated with the TLR signaling cascade |
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,IBA | 19290921 |
GO:0002344 | B cell affinity maturation | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
ibrutinib | Approved | Pharma | Target, inhibitor | Kinase Inhibitors | 0 | |
Tyrosine | Approved, Investigational | Nutra | 938 | |||
Acalabrutinib | Approved, Investigational | Pharma | Target, inhibitor | 0 | ||
Dasatinib | Approved, Investigational | Pharma | Target | Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors | 312 | |
fostamatinib | Approved, Investigational | Pharma | Target, inhibitor | Kinase Inhibitors | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor | 58-64-0 | |||
(-)-Terreic acid |
|
121-40-4 |
|
|
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 |
Compound | Action | Cas Number |
---|---|---|
AVL-292 | Btk inhibitor | 1202757-89-8 |
AVL-292 benzenesulfonate | Selective Btk inhibitor | 1360053-81-1 |
Btk inhibitor 1 | 1412418-47-3 | |
Btk inhibitor 1 hydrochloride | ||
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 29732 | Inhibitor of Bruton's Tyrosine Kinase | 330786-25-9 |
PCI-32765 (Ibrutinib) | Bruton's tyrosine kinase (BTK) inhibitor | 936563-96-1 |
PCI-32765 Racemate | BTK inhibitor | 936563-87-0 |
QL47 | BTK kinase inhibitor | 1469988-75-7 |
RN486 | Btk inhibitor,potent and selective | 1242156-23-5 |
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | BTK 33 32 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | BTK 33 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | BTK 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | BTK 33 32 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | BTK 33 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Btk 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Btk 32 |
|
||
chicken (Gallus gallus) |
Aves | BTK 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | BTK 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | btk 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii |