TXK Gene - Tyrosine Kinase Non-Receptor
A comprehensive overview of the TXK gene, its protein product, expression, and associated diseases.
Gene Information Card
| Symbol | TXK |
|---|---|
| Full Name | TXK tyrosine kinase |
| Gene Type | protein-coding |
| Chromosomal Location | 4p12 |
| NCBI Gene ID | 7294 ncbi.nlm.nih.gov/gene/7294 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | P42680 |
| OMIM ID | 186940 |
| HGNC ID | 12434 |
| Aliases | RLK, BTK11, TPK |
Description
TXK (TXK tyrosine kinase) is a protein-coding gene that belongs to the Tec family of non-receptor tyrosine kinases. It is primarily expressed in T cells and plays a critical role in T-cell receptor (TCR) signaling, cytokine production, and immune regulation. TXK is involved in the phosphorylation of downstream signaling molecules such as PLCγ1 and STAT3, influencing T-cell activation and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency | Mutations in TXK may impair T-cell signaling, leading to immune dysfunction. | ClinVar |
| Lymphoma | Altered TXK expression or activity may contribute to T-cell lymphoma pathogenesis. | COSMIC |
| Autoimmune diseases | Dysregulation of TXK-mediated signaling can promote aberrant T-cell responses. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lymph node | 10.3 | Medium |
| Thymus | 8.9 | Medium |
| Bone marrow | 5.2 | Low |
| Lung | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell) | 15.8 | High expression |
| Raji (B-cell) | 1.2 | Low expression |
| HEK293 (embryonic kidney) | 0.5 | Not expressed |
| K562 (leukemia) | 3.4 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg29Cys | Missense | <0.01% | Potential loss of function |
| p.Glu152Lys | Missense | <0.01% | Unknown functional impact |
| c.1234delA | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt kinase activity or protein stability, potentially impairing T-cell signaling.
Gain of Function (GOF)
Not well documented; no known activating mutations reported.
Dominant Negative (DN)
Not reported for TXK.
View complete mutation data：
Gene Ontology (GO)
Pathways
• T cell receptor signaling pathway (KEGG: hsa04660)
• Fc epsilon RI signaling pathway (KEGG: hsa04664)
• B cell receptor signaling pathway (KEGG: hsa04662)
Protein Summary
The TXK protein (also known as RLK) is a 527-amino acid non-receptor tyrosine kinase belonging to the Tec family. It contains an N-terminal PH domain, a SH3 domain, a SH2 domain, and a C-terminal kinase domain. TXK is predominantly expressed in T cells and is activated upon TCR stimulation. It phosphorylates PLCγ1, leading to calcium mobilization and activation of downstream transcription factors such as NFAT and AP-1. TXK also interacts with STAT3 to regulate cytokine gene expression. Its activity is essential for proper T-cell function and immune homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TXK Knockout HEK293 Cell Line | EDJ-KQ5984 | Human | 7294 | Details Get a Quote |
| TXK Knockout HCT 116 Cell Line | EDJ-KQ29559 | Human | 7294 | Details Get a Quote |
| TXK Knockout HeLa Cell Line | EDJ-KQ54711 | Human | 7294 | Details Get a Quote |
| TXK Knockout A-549 Cell Line | EDJ-KQ63201 | Human | 7294 | Details Get a Quote |
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