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GYS2 glycogen synthase 2 [ Homo sapiens (human) ]

Gene ID: 2998, updated on 23-Nov-2021

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
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
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Genomic context

See GYS2 in Genome Data Viewer
Location:
12p12.1
Exon count:
19
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (21531527..21604858, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (21689041..21757781, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene pyridine nucleotide-disulphide oxidoreductase domain 1 Neighboring gene elongin C pseudogene 31 Neighboring gene RecQ like helicase Neighboring gene golgi transport 1B Neighboring gene spexin hormone Neighboring gene uncharacterized LOC105369689 Neighboring gene lactate dehydrogenase B Neighboring gene uncharacterized LOC102724261

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables glycogen (starch) synthase activity EXP
Inferred from Experiment
more info
PubMed 
enables glycogen (starch) synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables glycogen (starch) synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables glycogen (starch) synthase 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 generation of precursor metabolites and energy TAS
Traceable Author Statement
more info
PubMed 
involved_in glycogen biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 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
PubMed 
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
 
located_in ectoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
glycogen [starch] synthase, liver
Names
glycogen synthase 2 (liver)
NP_068776.2
XP_006719126.1
XP_016874734.1
XP_024304728.1

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

  1. NG_016167.1 RefSeqGene

    Range
    5001..73741
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1293

mRNA and Protein(s)

  1. NM_021957.4NP_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
    P54840
    Related
    ENSP00000261195.2, ENST00000261195.3
    Conserved Domains (1) summary
    pfam05693
    Location:33658
    Glycogen_syn; Glycogen synthase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    21531527..21604858 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    pfam05693
    Location:33658
    Glycogen_syn; Glycogen synthase
  2. XM_006719063.3XP_006719126.1  glycogen [starch] synthase, liver isoform X2

    Conserved Domains (2) summary
    pfam05693
    Location:3581
    Glycogen_syn; Glycogen synthase
    cl10013
    Location:3538
    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 ...
  3. XM_017019245.2XP_016874734.1  glycogen [starch] synthase, liver isoform X3

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