GYS2 glycogen synthase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GYS2provided by HGNC
Official Full Name: glycogen synthase 2provided by HGNC
Primary source: HGNC:HGNC:4707
See related: Ensembl:ENSG00000111713 MIM:138571; AllianceGenome:HGNC:4707
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: The protein encoded by this gene, liver glycogen synthase, catalyzes the rate-limiting step in the synthesis of glycogen - the transfer of a glucose molecule from UDP-glucose to a terminal branch of the glycogen molecule. Mutations in this gene cause glycogen storage disease type 0 (GSD-0) - a rare type of early childhood fasting hypoglycemia with decreased liver glycogen content. [provided by RefSeq, Dec 2009]
Expression: Restricted expression toward liver (RPKM 35.4) See more
Orthologs: mouse all
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Genomic context

Location:: 12p12.1

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (21532577..21604847, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (21415082..21483766, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (21689041..21757781, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Whole-Exome sequencing identifies GYS2 biallelic variants in individuals with suspected epilepsy.
Title: Whole-Exome sequencing identifies GYS2 biallelic variants in individuals with suspected epilepsy.
Value of glycogen synthase 2 in intrahepatic cholangiocarcinoma prognosis assessment and its influence on the activity of cancer cells.
Title: Value of glycogen synthase 2 in intrahepatic cholangiocarcinoma prognosis assessment and its influence on the activity of cancer cells.
A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2: a case report and literature review.
Title: A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2: a case report and literature review.
Findings suggest that GYS2 serves as a prognostic factor and functions as a tumor suppressor in HCC. The newly identified HBx/GYS2/p53 axis is responsible for the deregulation of glycogen metabolism.
Title: A GYS2/p53 Negative Feedback Loop Restricts Tumor Growth in HBV-Related Hepatocellular Carcinoma.
Mutation in GYS2 gene is associated with hepatic glycogen synthase deficiency.
Title: The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency.
Sequencing of the GYS2 gene is more likely to be positive in patients with fasting ketotic hypoglycaemia and concomitant postprandial hyperglycaemia with hyperlactataemia.
Title: Mutational analysis of the GYS2 gene in patients diagnosed with ketotic hypoglycaemia.
The GYS2 gene is a new susceptibility gene that significantly affects the risk for ovary syndrome through obesity-related conditions.
Title: Genome-wide association study identifies GYS2 as a novel genetic factor for polycystic ovary syndrome through obesity-related condition.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Glycogen storage disorder due to hepatic glycogen synthase deficiency MedGen: C1855861 OMIM: 240600 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G62406 (e-PCR)
- UniSTS:139320

D12S1945 (e-PCR)
- UniSTS:28476

SHGC-105992 (e-PCR)
- UniSTS:169558

RH76620 (e-PCR)
- UniSTS:84572

G62378 (e-PCR)
- UniSTS:139398

RH79957 (e-PCR)
- UniSTS:84128

D12S155 (e-PCR)
- UniSTS:148903

SHGC-77946 (e-PCR)
- UniSTS:101358

D12S1066 (e-PCR), detects polymorphism
- UniSTS:82165

G62379 (e-PCR)
- UniSTS:139258

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity	EXP Inferred from Experiment more info	PubMed
enables alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity	IBA Inferred from Biological aspect of Ancestor more info
enables alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity	IDA Inferred from Direct Assay more info	PubMed
enables alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity	ISS Inferred from Sequence or Structural Similarity more info
enables glycogen synthase activity, transferring glucose-1-phosphate	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in glycogen biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glycogen biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glycogen biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in glycogen biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glycogen biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in glycogen biosynthetic process	TAS Traceable Author Statement more info
involved_in response to glucose	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cell cortex	ISS Inferred from Sequence or Structural Similarity more info
located_in cortical actin cytoskeleton	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoskeleton	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: glycogen [starch] synthase, liver

Names: glycogen synthase 2 (liver)

NP_068776.2

EC 2.4.1.11

XP_006719126.1

EC 2.4.1.11

XP_016874734.1

EC 2.4.1.11

XP_024304728.1

EC 2.4.1.11

XP_054227874.1

EC 2.4.1.11

XP_054227875.1

EC 2.4.1.11

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016167.1 RefSeqGene

Range

5001..73741

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GenBank, FASTA, Sequence Viewer (Graphics), LRG_1293

mRNA and Protein(s)

NM_021957.4 → NP_068776.2 glycogen [starch] synthase, liver

See identical proteins and their annotated locations for NP_068776.2

Status: REVIEWED

Source sequence(s)

AC006559, AV653197, BC126310, DB185936

Consensus CDS

CCDS8690.1

UniProtKB/Swiss-Prot

A0AVD8, P54840

Related

ENSP00000261195.2, ENST00000261195.3

Conserved Domains (1) summary

pfam05693
Location:33 → 658

Glycogen_syn; Glycogen synthase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

21532577..21604847 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024448960.2 → XP_024304728.1 glycogen [starch] synthase, liver isoform X1

UniProtKB/Swiss-Prot

A0AVD8, P54840

Conserved Domains (1) summary

pfam05693
Location:33 → 658

Glycogen_syn; Glycogen synthase
XM_006719063.4 → XP_006719126.1 glycogen [starch] synthase, liver isoform X2

Conserved Domains (2) summary

pfam05693
Location:3 → 581

Glycogen_syn; Glycogen synthase

cl10013
Location:3 → 538

Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...
XM_017019245.3 → XP_016874734.1 glycogen [starch] synthase, liver isoform X3