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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GAK
cyclin G associated kinase
Chromosome 4 · 4p16.3
NCBI Gene: 2580Ensembl: ENSG00000178950.19HGNC: HGNC:4113UniProt: B4DS37
123PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
Golgi apparatusprotein serine/threonine kinase activitymembraneclathrin-coated vesicleParkinson diseaseAlzheimer diseaseneurodegenerative diseasemultiple sclerosis
✦AI Summary

GAK (cyclin G associated kinase) functions as an auxilin homolog involved in clathrin-mediated endocytosis and vesicle trafficking in non-neuronal cells. The protein associates with cyclin G and CDK5, and its expression oscillates during the cell cycle, peaking at G1 phase 1. GAK plays a critical role in the uncoating of clathrin-coated vesicles by Hsc70 and is involved in the dynamics of clathrin assembly and disassembly processes 2. The protein functions in clathrin-dependent endocytosis and intracellular trafficking pathways. Based on the provided abstracts, GAK appears to be part of protein interaction networks, as it was identified in a comprehensive human interactome study using quantitative proteomics approaches 3. However, specific disease associations or detailed mechanistic insights for GAK are not well-characterized in the available literature. The protein's role in cellular trafficking processes suggests potential clinical relevance in diseases involving endocytic dysfunction, though direct clinical significance requires further investigation.

Sources cited
1
GAK expression oscillates during cell cycle, peaking at G1 phase
PMID: 10625686
2
GAK involved in clathrin-mediated endocytosis and clathrin assembly/disassembly dynamics
PMID: 18489706
3
GAK identified as part of human protein interaction networks in quantitative proteomics study
PMID: 26496610
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Parkinson diseaseOpen Targets
0.44Moderate
Alzheimer diseaseOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.33Weak
lysosomal storage diseaseOpen Targets
0.33Weak
multiple sclerosisOpen Targets
0.33Weak
neuroinflammatory disorderOpen Targets
0.29Weak
breast cancerOpen Targets
0.20Weak
bone fractureOpen Targets
0.18Weak
Abnormality of the gastrointestinal tractOpen Targets
0.16Weak
Back painOpen Targets
0.13Weak
primary thrombocytopeniaOpen Targets
0.12Weak
type 2 diabetes mellitusOpen Targets
0.11Weak
osteoarthritisOpen Targets
0.08Suggestive
male infertilityOpen Targets
0.07Suggestive
cancerOpen Targets
0.05Suggestive
Abnormality of the skeletal systemOpen Targets
0.05Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.04Suggestive
Congenital dyserythropoietic anemia type IOpen Targets
0.04Suggestive
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
0.04Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CLTCL1Protein interaction100%RAB29Protein interaction100%AP2A1Protein interaction98%GBA1Protein interaction98%CLHC1Protein interaction98%CCNG1Protein interaction96%
Tissue Expression6 tissues
Lung
100%
Liver
88%
Ovary
83%
Bone Marrow
72%
Brain
32%
Heart
22%
Gene Interaction Network
Click a node to explore
GAKCLTCL1RAB29AP2A1GBA1CLHC1CCNG1
PROTEIN STRUCTURE
Preparing viewer…
PDB4O38 · 2.10 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.69LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.57 [0.47–0.69]
RankingsWhere GAK stands among ~20K protein-coding genes
  • #3,823of 20,598
    Most Researched123 · top quartile
  • #5,162of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedGAK
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Rewiring cancer drivers to activate apoptosis.
PMID: 37495688
Nature · 2023
1.00
2
Design and testing of a humanized porcine donor for xenotransplantation.
PMID: 37821590
Nature · 2023
0.90
3
Trial of Prasinezumab in Early-Stage Parkinson's Disease.
PMID: 35921451
N Engl J Med · 2022
0.80
4
Relocalizing transcriptional kinases to activate apoptosis.
PMID: 39361741
Science · 2024
0.70
5
Functional diversification of dietary plant small molecules by the gut microbiome.
PMID: 40056901
Cell · 2025
0.60