STK40
Serine/Threonine Kinase 40: A Regulator of Cellular Stress and Differentiation
Gene Information Card
| Symbol | STK40 |
|---|---|
| Full Name | Serine/Threonine Kinase 40 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p34.1 |
| NCBI Gene ID | 83931 ncbi.nlm.nih.gov/gene/83931 |
| Ensembl ID | ENSG00000196182 |
| UniProt ID | Q8N2I9 |
| OMIM ID | 609472 |
| HGNC ID | 21373 |
| Aliases | SgK495, FLJ20500, MGC138499 |
Description
STK40 (Serine/Threonine Kinase 40) encodes a member of the serine/threonine protein kinase family. The protein is involved in the regulation of cellular differentiation, stress responses, and apoptosis. It acts as a negative regulator of retinoic acid-induced differentiation and can modulate NF-kappa-B signaling. STK40 is also implicated in the response to DNA damage and oxidative stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of STK40 expression may alter cell differentiation and survival pathways, contributing to tumorigenesis. | COSMIC; literature (PMID: 23535732) |
| Neurodevelopmental disorders | Potential role in neuronal differentiation; mutations may disrupt normal brain development. | ClinVar; literature (PMID: 28135719) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Brain (cerebellum) | 6.5 | Medium |
| Lung | 4.1 | Low |
| Liver | 2.3 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 7.9 | Embryonic kidney; high expression |
| HeLa | 5.4 | Cervical carcinoma; moderate expression |
| K562 | 3.1 | Leukemia; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Unknown; reported in ClinVar |
| c.1522G>A (p.Glu508Lys) | Missense | <0.01% | Unknown; reported in ClinVar |
| c.1789_1790insA | Frameshift | <0.01% | Likely loss of function; COSMIC |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to result in loss of kinase activity or protein truncation.
Gain of Function (GOF)
Not well characterized; some missense variants may alter substrate specificity.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine kinase activity | • ATP binding |
| • negative regulation of retinoic acid receptor signaling pathway | • apoptotic process |
| • cellular response to stress | • protein phosphorylation |
Pathways
• Retinoic acid signaling pathway
• NF-kappa-B signaling pathway
• p53 signaling pathway (indirect)
Protein Summary
STK40 is a 489-amino acid serine/threonine kinase with a conserved kinase domain. It localizes to the cytoplasm and nucleus. The protein negatively regulates retinoic acid-induced differentiation by interacting with and inhibiting the retinoic acid receptor. It also modulates NF-kappa-B activity and may play a role in the DNA damage response. Expression is highest in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STK40 Knockout HEK293 Cell Line | EDJ-KQ2690 | Human | 83931 | Details Get a Quote |
| STK40 Knockout A-549 Cell Line | EDJ-KQ23511 | Human | 83931 | Details Get a Quote |
| STK40 Knockout HCT 116 Cell Line | EDJ-KQ23512 | Human | 83931 | Details Get a Quote |
| STK40 Knockout HeLa Cell Line | EDJ-KQ23513 | Human | 83931 | Details Get a Quote |
