DSTYK: Dual Serine/Threonine and Tyrosine Protein Kinase
A dual-specificity kinase implicated in developmental disorders and cancer
Gene Information Card
| Symbol | DSTYK |
|---|---|
| Full Name | Dual serine/threonine and tyrosine protein kinase |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 25778 ncbi.nlm.nih.gov/gene/25778 |
| Ensembl ID | ENSG00000133048 |
| UniProt ID | Q6XUX3 |
| OMIM ID | 612666 |
| HGNC ID | 29037 |
| Aliases | RIP5, RIPK5, HDCMD38P |
Description
DSTYK (dual serine/threonine and tyrosine protein kinase) encodes a protein kinase that phosphorylates substrates on serine, threonine, and tyrosine residues. It is involved in MAPK signaling, cell survival, and development. Mutations in DSTYK are associated with congenital anomalies of the kidney and urinary tract (CAKUT) and have been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital anomalies of the kidney and urinary tract (CAKUT) | Loss-of-function mutations impair kinase activity, disrupting developmental signaling pathways | PMID: 23542697 |
| Prostate cancer | Somatic mutations and altered expression may contribute to tumor progression | PMID: 26689913 |
| Lung cancer | Overexpression and mutations linked to poor prognosis | PMID: 29187737 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Lung | 8.3 | Low |
| Brain | 6.1 | Low |
| Testis | 15.2 | High |
| Liver | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.0 | Embryonic kidney cells |
| A549 | 9.5 | Lung carcinoma cells |
| PC3 | 11.2 | Prostate cancer cells |
| HepG2 | 5.8 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358*) | Nonsense | Rare | Loss of function |
| c.1645G>A (p.Gly549Arg) | Missense | Rare | Impaired kinase activity |
| c.2380C>T (p.Arg794Trp) | Missense | Rare | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish kinase activity, leading to developmental defects such as CAKUT.
Gain of Function (GOF)
Not well characterized; some somatic mutations in cancer may enhance kinase activity.
Dominant Negative (DN)
Not reported for DSTYK.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004672 (GO:0004672) | • GO:0004674 (GO:0004674) |
| • GO:0005524 (GO:0005524) | • GO:0006468 (GO:0006468) |
| • GO:0016310 (GO:0016310) | • GO:0046777 (GO:0046777) |
Pathways
• MAPK signaling pathway (KEGG: hsa04010)
• Apoptosis (KEGG: hsa04210)
• ErbB signaling pathway (KEGG: hsa04012)
Protein Summary
DSTYK is a dual-specificity protein kinase that phosphorylates serine, threonine, and tyrosine residues. It contains an N-terminal kinase domain and a C-terminal domain with homology to receptor-interacting protein (RIP) kinases. DSTYK activates MAPK pathways and regulates cell survival and apoptosis. It is widely expressed, with highest levels in testis and kidney. Mutations cause CAKUT and are implicated in cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DSTYK Knockout HEK293 Cell Line | EDJ-KQ8222 | Human | 25778 | Details Get a Quote |
| DSTYK Knockout A-549 Cell Line | EDJ-KQ34120 | Human | 25778 | Details Get a Quote |
| DSTYK Knockout HCT 116 Cell Line | EDJ-KQ34121 | Human | 25778 | Details Get a Quote |
| DSTYK Knockout HeLa Cell Line | EDJ-KQ34122 | Human | 25778 | Details Get a Quote |
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