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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GYG2
glycogenin 2
Chromosome X · Xp22.33
NCBI Gene: 8908Ensembl: ENSG00000056998.22HGNC: HGNC:4700UniProt: A8K8Y1
25PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
glycogen biosynthetic processglycogenin glucosyltransferase activityprotein bindingcytoplasmdisorder of glycogen metabolismprimary ovarian insufficiencyAbnormality of neuronal migrationglioma
✦AI Summary

GYG2 encodes glycogenin-2, an X-linked protein that participates in glycogen biosynthesis by initiating primer formation for glycogen synthesis 1. Unlike its paralog GYG1, GYG2 exhibits minimal autoglycosylation activity and functions as a suppressor of glycogen formation, with both glycogenins coordinating glycogen synthase activity in a cell-type-dependent manner to maintain glucose homeostasis 2. GYG2 is subjected to X chromosome X in normal human fibroblasts 3, localizing to Xp22.3 near the X-Y pseudoautosomal region 1. Functionally, GYG2 is not essential for liver glycogen synthesis or glucagon-stimulated glucose release, as individuals with complete GYG2 deletions show normal glucose metabolism and liver histology 4. However, disease-causing mutations are clinically significant: a hemizygous missense mutation (W222S) impairs self-glucosylation and associates with Leigh syndrome in males 5. Additionally, GYG2 emerges as a novel aging biomarker in subcutaneous adipose tissue linked to mitochondrial function 6, and recent evidence suggests GYG2 suppresses glioma cell apoptosis, making it a potential oncolytic virus therapy target 7. GYG2 has been identified as a candidate disease gene in rare genetic disorders 8.

Sources cited
1
GYG2 gene structure (11 exons, >46 kb), chromosomal localization to Xp22.3, and role in glycogen synthesis initiation
PMID: 10721716
2
GYG2 exhibits minimal autoglycosylation activity, acts as suppressor of glycogen formation, and coordinates with GYG1 to regulate glucose homeostasis
PMID: 40670355
3
GYG2 is subjected to X chromosome inactivation in human fibroblasts
PMID: 19684479
4
GYG2 deletion carriers show normal glucose metabolism and liver glycogen synthesis
PMID: 25751106
5
Hemizygous GYG2 W222S mutation impairs self-glucosylation and associates with Leigh syndrome
PMID: 24100632
6
GYG2 is a mitochondria-related aging biomarker in subcutaneous adipose tissue
PMID: 38062989
7
GYG2 suppresses glioma cell apoptosis and is downregulated by oncolytic virus infection
PMID: 41350820
8
GYG2 identified as candidate disease gene in rare genetic disorders via clinical exome sequencing
PMID: 36964972
Disease Associationsⓘ20
disorder of glycogen metabolismOpen Targets
0.37Weak
primary ovarian insufficiencyOpen Targets
0.12Weak
Abnormality of neuronal migrationOpen Targets
0.11Weak
gliomaOpen Targets
0.07Suggestive
Barrett's esophagusOpen Targets
0.05Suggestive
colorectal adenocarcinomaOpen Targets
0.04Suggestive
esophageal adenocarcinomaOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.03Suggestive
cancerOpen Targets
0.02Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
Acute hepatic failureOpen Targets
0.01Suggestive
breast carcinomaOpen Targets
0.01Suggestive
breast ductal carcinoma in situOpen Targets
0.01Suggestive
invasive breast ductal carcinomaOpen Targets
0.01Suggestive
diabetes mellitusOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
metabolic diseaseOpen Targets
0.01Suggestive
psoriasisOpen Targets
0.01Suggestive
cardiomyopathyOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TRIM7Protein interaction96%ENPP3Protein interaction91%ENPP1Protein interaction91%EPM2AProtein interaction91%GYG1Protein interaction90%AMY1BProtein interaction84%
Tissue Expression6 tissues
Liver
100%
Brain
20%
Ovary
10%
Heart
7%
Bone Marrow
4%
Lung
1%
Gene Interaction Network
Click a node to explore
GYG2TRIM7ENPP3ENPP1EPM2AGYG1AMY1B
PROTEIN STRUCTURE
Preparing viewer…
PDB4UEG · 1.93 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.35LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.99 [0.74–1.35]
RankingsWhere GYG2 stands among ~20K protein-coding genes
  • #12,989of 20,598
    Most Researched25
  • #14,090of 17,882
    Most Constrained (LOEUF)1.35
Genes detectedGYG2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Clinical exome sequencing findings in 1589 patients.
PMID: 36964972
Am J Med Genet A · 2023
1.00
2
Structure and chromosomal localization of the human glycogenin-2 gene GYG2.
PMID: 10721716
Gene · 2000
0.90
3
MAOA and GYG2 are submitted to X chromosome inactivation in human fibroblasts.
PMID: 19684479
Epigenetics · 2009
0.80
4
Human glycogenins maintain glucose homeostasis by regulating glycogen metabolism.
PMID: 40670355
Nat Commun · 2025
0.70
5
A hemizygous GYG2 mutation and Leigh syndrome: a possible link?
PMID: 24100632
Hum Genet · 2014
0.60