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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GK
glycerol kinase
Chromosome X Β· Xp21.2
NCBI Gene: 2710Ensembl: ENSG00000198814.14HGNC: HGNC:4289UniProt: A0A8I5KXY7
55PubMed Papers
21Diseases
0Drugs
23Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedKinase
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
triglyceride metabolic processprotein bindingextracellular exosomemitochondrionGlycerol kinase deficiencyinborn glycerol kinase deficiencyisolated glycerol kinase deficiencygenetic disorder
✦AI Summary

Glycerol kinase (GK) is an X-linked enzyme that catalyzes the phosphorylation of glycerol to sn-glycerol 3-phosphate, a critical metabolic intermediate. This reaction is essential for multiple biosynthetic and catabolic pathways, including glycerolipid and triglyceride synthesis, glycogenesis, glycolysis, and gluconeogenesis. GK is localized to both the cytosol and mitochondria, reflecting its role as a hub in cellular energy metabolism and lipid biosynthesis 1. Regulation of GK expression is responsive to metabolic signals; glucocorticoid treatment modulates GK mRNA expression in white and brown adipocytes, with cortisone inducing short-term upregulation (1.5-6 fold) but suppressing long-term expression 1. GK deficiency is a recognized monogenic disorder affecting glycerol metabolism. Beyond its canonical metabolic role, genetic activation of GK (proxied by GCK variants) shows causal associations with improved frailty-related outcomes, including enhanced grip strength, increased appendicular lean mass, faster walking pace, and longer telomere length, with some effects mediated through reduced C-reactive protein 2. These findings suggest GK activators may have therapeutic potential in managing age-related decline and metabolic disease, though clinical validation remains necessary.

Sources cited
1
AQP7 is the primary glycerol transporter and GK expression is regulated by glucocorticoids in adipocytes
PMID: 32061341
2
Genetic evidence that glucokinase activation causally reduces frailty index and improves grip strength, appendicular lean mass, walking pace, and telomere length
PMID: 40035195
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
Glycerol kinase deficiencyOpen Targets
0.74Strong
inborn glycerol kinase deficiencyOpen Targets
0.74Strong
isolated glycerol kinase deficiencyOpen Targets
0.72Strong
genetic disorderOpen Targets
0.40Weak
glycerol kinase deficiency, adult formOpen Targets
0.37Weak
glycerol kinase deficiency, juvenile formOpen Targets
0.37Weak
Global developmental delayOpen Targets
0.12Weak
Absent speechOpen Targets
0.12Weak
SeizureOpen Targets
0.12Weak
azoospermiaOpen Targets
0.11Weak
spermatogenic failure 65Open Targets
0.09Suggestive
spermatogenic failure 58Open Targets
0.09Suggestive
spermatogenic failure 56Open Targets
0.09Suggestive
spermatogenic failure 92Open Targets
0.09Suggestive
spermatogenic failure 94Open Targets
0.09Suggestive
spermatogenic failure 84Open Targets
0.09Suggestive
spermatogenic failure 93Open Targets
0.09Suggestive
spermatogenic failure 10Open Targets
0.09Suggestive
spermatogenic failure 11Open Targets
0.09Suggestive
spermatogenic failure 40Open Targets
0.09Suggestive
Glycerol kinase deficiencyUniProt
Pathogenic Variants23
NM_001205019.2(GK):c.443dup (p.Tyr148Ter)Likely pathogenic
Inborn glycerol kinase deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 148
NM_001205019.2(GK):c.152+1G>CLikely pathogenic
Inborn genetic diseases|Inborn glycerol kinase deficiency
β˜…β˜…β˜†β˜†2019
NM_001205019.2(GK):c.1151+1G>TLikely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025
NM_001205019.2(GK):c.1236+2T>CLikely pathogenic
Uterine corpus endometrial carcinoma|Nonpapillary renal cell carcinoma|Inborn genetic diseases
β˜…β˜†β˜†β˜†2025
NM_001205019.2(GK):c.1144G>A (p.Ala382Thr)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2024β†’ Residue 382
NM_001205019.2(GK):c.1232G>A (p.Arg411Gln)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 411
NM_001205019.2(GK):c.89C>A (p.Ser30Ter)Likely pathogenic
GK-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 30
NM_001205019.2(GK):c.373_374del (p.Ser125_Leu126insTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 125
NM_001205019.2(GK):c.542G>A (p.Trp181Ter)Pathogenic
Inborn glycerol kinase deficiency|Nonpapillary renal cell carcinoma
β˜…β˜†β˜†β˜†2023β†’ Residue 181
NM_001205019.2(GK):c.259+1255G>APathogenic
Inborn glycerol kinase deficiency
β˜…β˜†β˜†β˜†2022
NM_001205019.2(GK):c.851+1G>APathogenic
not provided|Thyroid cancer, nonmedullary, 1
β˜…β˜†β˜†β˜†2021
NM_001205019.2(GK):c.385del (p.Arg129fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 129
NM_001205019.2(GK):c.553-2A>GLikely pathogenic
not provided|Thyroid cancer, nonmedullary, 1|Nonpapillary renal cell carcinoma
β˜…β˜†β˜†β˜†2020
NM_001205019.2(GK):c.907_908insC (p.Asp303fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 303
NM_001205019.2(GK):c.259+2T>CPathogenic
not provided
β˜…β˜†β˜†β˜†2015
NM_001205019.2(GK):c.514C>T (p.Arg172Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2015β†’ Residue 172
NM_001205019.2(GK):c.880A>G (p.Asn294Asp)Pathogenic
Inborn glycerol kinase deficiency
β˜†β˜†β˜†β˜†2000β†’ Residue 294
NM_001205019.2(GK):c.1525T>C (p.Trp509Arg)Pathogenic
Inborn glycerol kinase deficiency
β˜†β˜†β˜†β˜†1998β†’ Residue 509
NM_001205019.2(GK):c.1255C>T (p.Arg419Ter)Pathogenic
Inborn glycerol kinase deficiency
β˜†β˜†β˜†β˜†1998β†’ Residue 419
NC_000023.11:g.(30700906_30707555)_(30728743_?)delPathogenic
Inborn glycerol kinase deficiency
β˜†β˜†β˜†β˜†1998
View on ClinVar β†—
Related Genes
GPAMProtein interaction100%LPLProtein interaction97%NR0B1Protein interaction96%AKR1B1Protein interaction94%MGLLProtein interaction94%AKR1B10Protein interaction91%
Tissue Expression6 tissues
Liver
100%
Lung
45%
Brain
16%
Heart
12%
Ovary
7%
Bone Marrow
5%
Gene Interaction Network
Click a node to explore
GKGPAMLPLNR0B1AKR1B1MGLLAKR1B10
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P32189
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.28Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.16 [0.10–0.28]
RankingsWhere GK stands among ~20K protein-coding genes
  • #8,201of 20,598
    Most Researched55
  • #2,066of 5,498
    Most Pathogenic Variants23
  • #978of 17,882
    Most Constrained (LOEUF)0.28 Β· top 10%
Genes detectedGK
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Human trials exploring anti-aging medicines.
PMID: 38181790
Cell Metab Β· 2024
1.00
2
Long-term efficacy and safety of romiplostim in refractory aplastic anemia: follow-up of a phase 2/3 study.
PMID: 38134300
Blood Adv Β· 2024
0.90
3
TFEB promotes Ginkgetin-induced ferroptosis via TRIM25 mediated GPX4 lysosomal degradation in EGFR wide-type lung adenocarcinoma.
PMID: 40083935
Theranostics Β· 2025
0.80
4
Patritumab deruxtecan induces immunogenic cell death.
PMID: 40458967
Oncoimmunology Β· 2025
0.70
5
Gerogenes and gerosuppression: the pillars of precision geromedicine.
PMID: 38802575
Cell Res Β· 2024
0.60