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STK36

Chr 2q35

serine/threonine kinase 36

Aliases:
KIAA1278, FU
MANE:
ENST00000295709.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Respiratory ciliopathies including non-CF bronchiectasis

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • ciliary dyskinesia, primary, 46

    0.56
  • primary ciliary dyskinesia

    0.39
  • neurodegenerative disease

    0.31
  • spermatogenic failure 18

    0.27
  • posterior cortical atrophy

    0.08
  • focal segmental glomerulosclerosis

    0.07
  • familial idiopathic steroid-resistant nephrotic syndrome

    0.07
  • Joubert syndrome

    0.05
  • proteinuria, chronic benign

    0.05
  • Abnormality of the skeletal system

    0.05

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Serine/threonine-protein kinase 36

Serine/threonine protein kinase which plays an important role in the smoothened pathway by regulating the activity of GLI transcription factors (PubMed:10806483, PubMed:28543983, PubMed:31279575, PubMed:38096226). Controls the activity of the transcriptional regulators GLI1, GLI2 and GLI3 by opposing the effect of SUFU and promoting their nuclear localization (PubMed:10806483, PubMed:31279575, PubMed:38096226). Acts by mediating phosphorylation of GLI proteins, promoting their dissociation from SUFU (PubMed:28543983, PubMed:31279575, PubMed:38096226). Also catalyzes phosphorylation of ULK4 adapter (PubMed:38096226). GLI2 requires an additional function of STK36 to become transcriptionally active, but the enzyme does not need to possess an active kinase catalytic site for this to occur (PubMed:10806483). Required for postnatal development, possibly by regulating the homeostasis of cerebral spinal fluid or ciliary function (PubMed:28543983). Essential for construction of the central pair apparatus of motile cilia (PubMed:28543983)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.