STK36
Serine/Threonine Kinase 36
Gene Information Card
| Symbol | STK36 |
|---|---|
| Full Name | Serine/Threonine Kinase 36 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q35 |
| NCBI Gene ID | 27148 ncbi.nlm.nih.gov/gene/27148 |
| Ensembl ID | ENSG00000115977 |
| UniProt ID | Q9NRP7 |
| OMIM ID | 607652 |
| HGNC ID | 17207 |
| Aliases | FU, Fused homolog |
Description
STK36 (serine/threonine kinase 36), also known as FU (fused homolog), encodes a protein kinase that is a key component of the Hedgehog (Hh) signaling pathway. It localizes to primary cilia and is essential for the activation of GLI transcription factors. STK36 functions downstream of SMO and upstream of SUFU, and its kinase activity is required for ciliary trafficking and signal transduction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia | Loss-of-function mutations in STK36 impair ciliary function and Hedgehog signaling, leading to defective mucociliary clearance. | ClinVar, PMID: 28798025 |
| Hedgehog-related developmental disorders | Disruption of STK36-mediated GLI activation can cause holoprosencephaly-like phenotypes and skeletal abnormalities. | OMIM, PMID: 16914492 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.1 | Low |
| Kidney | 4.3 | Low |
| Liver | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | RNA-seq |
| HeLa | 8.5 | RNA-seq |
| A549 | 5.2 | RNA-seq |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2113C>T (p.Arg705*) | Nonsense | Rare | Loss of function; truncation of kinase domain |
| c.1024G>A (p.Gly342Arg) | Missense | Rare | Impaired kinase activity; reduced GLI activation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that abolish kinase activity or protein stability, leading to defective Hedgehog signaling and ciliary dysfunction.
Gain of Function (GOF)
Not reported in STK36.
Dominant Negative (DN)
Not reported in STK36.
View complete mutation data:
Gene Ontology (GO)
| • Protein serine/threonine kinase activity | • Hedgehog signaling pathway |
| • Cilium assembly | • Intracellular signal transduction |
| • ATP binding |
Pathways
• Hedgehog signaling pathway (KEGG: hsa04340)
• Ciliary landscape (Reactome: R-HSA-5620912)
Protein Summary
STK36 is a 1,318-amino acid serine/threonine kinase with an N-terminal catalytic domain and a C-terminal regulatory region. It localizes to the base of primary cilia and phosphorylates GLI transcription factors to promote their activator forms. The protein is essential for Hedgehog signal transduction and ciliary homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STK36 Knockout HEK293 Cell Line | EDJ-KQ2071 | Human | 27148 | Details Get a Quote |
| STK36 Knockout A-549 Cell Line | EDJ-KQ22145 | Human | 27148 | Details Get a Quote |
| STK36 Knockout HCT 116 Cell Line | EDJ-KQ22146 | Human | 27148 | Details Get a Quote |
| STK36 Knockout HeLa Cell Line | EDJ-KQ22147 | Human | 27148 | Details Get a Quote |
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