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.

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 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
Displaying Records 1 To 4 Of 4 Records
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