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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLK
STE20 like kinase
Chromosome 10 · 10q24.33-q25.1
NCBI Gene: 9748Ensembl: ENSG00000065613.16HGNC: HGNC:11088UniProt: Q9H2G2
99PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of focal adhesion assemblycytoplasmextracellular exosomeprotein serine/threonine kinase activityneurodegenerative diseaseuterine fibroidstrokecoronary artery disease
✦AI Summary

SLK (STE20-like kinase) is a serine/threonine kinase that plays critical roles in cytoskeletal organization and neuronal development. The protein regulates microtubule polarity and is essential for proper neuronal cell polarization, dendritic arborization, and synapse maturation 1. SLK mediates these functions through its involvement in actin stress fiber dissolution and focal adhesion regulation, contributing to cell migration and morphological plasticity. Mechanistically, SLK phosphorylates downstream targets to coordinate cytoskeletal dynamics. Recent evidence demonstrates that SLK-mediated S716 phosphorylation of USP8 is required for USP8 interaction with O-GlcNAc transferase (OGT), a regulatory interaction relevant to ferroptosis pathways in hepatocellular carcinoma 2. Clinically, biallelic SLK variants cause autosomal recessive neurodevelopmental disorder (NDD) characterized by impaired neuronal maturation, abnormal cytoskeletal organization, and reduced dendritic complexity 1. Patient-derived cells and Drosophila models of Slik deficiency recapitulate these phenotypes, confirming that cytoskeleton-mediated neuronal dysfunction underlies disease pathogenesis. SLK was also identified as a novel candidate gene in a broader study of intellectual disability etiology 3. These findings establish SLK as essential for proper neuronal development and identify cytoskeletal dysfunction as the primary mechanism of SLK-related disease.

Sources cited
1
SLK regulates microtubule polarity and dendritic development; biallelic SLK variants cause autosomal recessive neurodevelopmental disorder with impaired neuronal maturation and dendritic arborization
PMID: 40347834
2
SLK-mediated S716 phosphorylation of USP8 is required for USP8 interaction with OGT in ferroptosis regulation
PMID: 37867237
3
SLK identified as a novel candidate gene associated with intellectual disability in a genetic heterogeneity study
PMID: 28940097
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.45Moderate
uterine fibroidOpen Targets
0.42Moderate
strokeOpen Targets
0.40Weak
coronary artery diseaseOpen Targets
0.33Weak
MenorrhagiaOpen Targets
0.26Weak
Gastrointestinal hemorrhageOpen Targets
0.24Weak
Uterine leiomyomaOpen Targets
0.19Weak
neuroinflammatory disorderOpen Targets
0.19Weak
attention deficit hyperactivity disorderOpen Targets
0.09Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.07Suggestive
movement disorderOpen Targets
0.07Suggestive
attention deficit-hyperactivity disorder 8Open Targets
0.07Suggestive
intellectual disability, autosomal recessive 59Open Targets
0.07Suggestive
schizophrenia 15Open Targets
0.07Suggestive
Phelan-McDermid syndromeOpen Targets
0.06Suggestive
X-linked non-syndromic intellectual disabilityOpen Targets
0.06Suggestive
autismOpen Targets
0.06Suggestive
Tourette syndromeOpen Targets
0.05Suggestive
melanomaOpen Targets
0.05Suggestive
cancerOpen Targets
0.05Suggestive
Pathogenic Variants1
NM_014720.4(SLK):c.1414G>T (p.Glu472Ter)Likely pathogenic
not provided
★☆☆☆2024→ Residue 472
View on ClinVar ↗
Related Genes
CDK1Protein interaction100%PLK1Protein interaction100%STK26Shared pathway25%STK10Shared pathway25%MAP3K3Shared pathway25%SIK2Shared pathway22%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
99%
Lung
78%
Ovary
67%
Brain
65%
Liver
32%
Gene Interaction Network
Click a node to explore
SLKCDK1PLK1STK26STK10MAP3K3SIK2
PROTEIN STRUCTURE
Preparing viewer…
PDB6HVD · 1.63 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.61LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.49 [0.40–0.61]
RankingsWhere SLK stands among ~20K protein-coding genes
  • #4,857of 20,598
    Most Researched99 · top quartile
  • #4,891of 5,498
    Most Pathogenic Variants1
  • #4,264of 17,882
    Most Constrained (LOEUF)0.61 · top quartile
Genes detectedSLK
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Expanding the genetic heterogeneity of intellectual disability.
PMID: 28940097
Hum Genet · 2017
1.00
2
Targeting USP8 Inhibits O-GlcNAcylation of SLC7A11 to Promote Ferroptosis of Hepatocellular Carcinoma via Stabilization of OGT.
PMID: 37867237
Adv Sci (Weinh) · 2023
0.90
3
Adenoid hypertrophy-​diagnosis and treatment: the new S2k guideline.
PMID: 37491540
HNO · 2023
0.80
4
Simultaneous Liver-Kidney Transplantation.
PMID: 35487613
Clin Liver Dis · 2022
0.70
5
Temsirolimus.
PMID: 24756806
Recent Results Cancer Res · 2014
0.60