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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GALK2
galactokinase 2
Chromosome 15 · 15q21.1-q21.2
NCBI Gene: 2585Ensembl: ENSG00000156958.15HGNC: HGNC:4119UniProt: B4DW43
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
galactokinase activitycytosolgalactose metabolic processcarbohydrate metabolic processneurodegenerative diseasenontoxic goitergastroesophageal reflux diseaseParkinson disease
✦AI Summary

GALK2 (galactokinase 2) is a GHMP family kinase that phosphorylates N-acetylgalactosamine (GalNAc) using ATP as the phosphate donor, with kinetic parameters of Km(ATP) = 14 ± 3 μM, Km(GalNAc) = 40 ± 14 μM, and kcat = 1.0 ± 0.1 s⁻¹ 1. The enzyme operates via an ordered ternary complex mechanism with ATP binding first 1. GALK2 functions as a key component of the galactose/GalNAc salvage pathway, enabling cells to reutilize free GalNAc derived from complex carbohydrate degradation and generate UDP-galactose for O-linked glycosylation 2. When GALK2 is disrupted alongside UDP-galactose-4-epimerase (GALE), O-glycosylation is completely eliminated and cannot be rescued by exogenous galactose or GalNAc supplementation 2. Primary hepatocytes express GALK2 to facilitate survival in glucose-depleted media containing galactose, whereas induced pluripotent stem cells, which express minimal GALK2, undergo apoptosis under these conditions 3. Beyond carbohydrate metabolism, GALK2 may have broader biological roles, as DNA methylation of GALK2 has been identified as a potential epigenetic marker for cognitive-behavioral therapy response in obsessive-compulsive disorder 4. Additionally, circular RNA derived from GALK2 (circ-GALK2) regulates vascular smooth muscle cell calcification through a miR-134-3p/CD36 axis 5.

Sources cited
1
GALK2 kinetic parameters, ATP/GalNAc binding mechanism, and GHMP family classification
PMID: 19874134
2
GALK2 role in galactose/GalNAc salvage pathway and O-glycosylation; knockout effects on glycosylation
PMID: 28654657
3
GALK2 expression in primary hepatocytes vs. induced pluripotent stem cells; survival in glucose-free medium
PMID: 23967260
4
GALK2 DNA methylation as epigenetic marker in obsessive-compulsive disorder
PMID: 40324706
5
Circular RNA from GALK2 gene (circ-GALK2) regulates vascular smooth muscle cell calcification
PMID: 40826429
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.35Weak
nontoxic goiterOpen Targets
0.28Weak
gastroesophageal reflux diseaseOpen Targets
0.20Weak
Parkinson diseaseOpen Targets
0.12Weak
Alzheimer diseaseOpen Targets
0.12Weak
lysosomal storage diseaseOpen Targets
0.12Weak
multiple sclerosisOpen Targets
0.12Weak
goiterOpen Targets
0.09Suggestive
hypothyroidismOpen Targets
0.07Suggestive
lung adenocarcinomaOpen Targets
0.07Suggestive
hyperthyroidismOpen Targets
0.07Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.05Suggestive
retinitis pigmentosaOpen Targets
0.05Suggestive
birdshot chorioretinopathyOpen Targets
0.04Suggestive
snowflake vitreoretinal degenerationOpen Targets
0.04Suggestive
Coats diseaseOpen Targets
0.04Suggestive
Cone rod dystrophyOpen Targets
0.04Suggestive
cone-rod dystrophy 16Open Targets
0.04Suggestive
Toxic Nodular GoiterOpen Targets
0.04Suggestive
exudative vitreoretinopathy 2, X-linkedOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DHDHProtein interaction83%UAP1Protein interaction78%IL11RAProtein interaction77%GALMProtein interaction73%GALTProtein interaction68%GALEProtein interaction56%
Tissue Expression6 tissues
Heart
100%
Liver
95%
Brain
68%
Lung
63%
Ovary
60%
Bone Marrow
44%
Gene Interaction Network
Click a node to explore
GALK2DHDHUAP1IL11RAGALMGALTGALE
PROTEIN STRUCTURE
Preparing viewer…
PDB2A2C · 1.65 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.00LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.72 [0.53–1.00]
RankingsWhere GALK2 stands among ~20K protein-coding genes
  • #14,432of 20,598
    Most Researched19
  • #9,754of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedGALK2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
HEK293T cell lines defective for O-linked glycosylation.
PMID: 28654657
PLoS One · 2017
1.00
2
Exploring genetic and epigenetic markers for predicting or monitoring response to cognitive-behavioral therapy in obsessive-compulsive disorder: A systematic review.
PMID: 40324706
Neurosci Biobehav Rev · 2025
0.90
3
Mechanistic studies on human N-acetylgalactosamine kinase.
PMID: 19874134
J Enzyme Inhib Med Chem · 2010
0.80
4
Cell death in a co-culture of hepatocellular carcinoma cells and human umbilical vascular endothelial cells in a medium lacking glucose and arginine.
PMID: 28123551
Oncol Lett · 2017
0.70
5
Exploring the role of circ-GALK2 in vascular smooth muscle cell calcification: mechanisms and implications.
PMID: 40826429
Eur J Med Res · 2025
0.60