This gene encodes a member of the the glycogenin family. Glycogenin is a self-glucosylating protein involved in the initiation reactions of glycogen biosynthesis. A gene on chromosome 3 encodes the muscle glycogenin and this X-linked gene encodes the glycogenin mainly present in liver; both are involved in blood glucose homeostasis. This gene has a short version on chromosome Y... See more...

Aliases for GYG2 Gene

Aliases for GYG2 Gene

  • Glycogenin 2 2 3 5
  • GN-2 2 3 4
  • Glycogenin Glucosyltransferase 2 3
  • Glycogenin-2 3 4
  • EC 2.4.1.186 4 51
  • GN2 3 4
  • GYG2 5

External Ids for GYG2 Gene

Previous GeneCards Identifiers for GYG2 Gene

  • GC0XP002051
  • GC0XP001915
  • GC0XP002276
  • GC0XP002341
  • GC0XP002740
  • GC0XP000690

Summaries for GYG2 Gene

Entrez Gene Summary for GYG2 Gene

  • This gene encodes a member of the the glycogenin family. Glycogenin is a self-glucosylating protein involved in the initiation reactions of glycogen biosynthesis. A gene on chromosome 3 encodes the muscle glycogenin and this X-linked gene encodes the glycogenin mainly present in liver; both are involved in blood glucose homeostasis. This gene has a short version on chromosome Y, which is 3' truncated and can not make a functional protein. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, May 2010]

GeneCards Summary for GYG2 Gene

GYG2 (Glycogenin 2) is a Protein Coding gene. Diseases associated with GYG2 include Glycogen Storage Disease Type 0 and Glycogen Storage Disease. Among its related pathways are Diseases of carbohydrate metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and glycogenin glucosyltransferase activity. An important paralog of this gene is GYG1.

UniProtKB/Swiss-Prot Summary for GYG2 Gene

  • Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase.

Additional gene information for GYG2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GYG2 Gene

Genomics for GYG2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GYG2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ002828 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 605.8 +1.4 1388 3.8 GATAD2A RCOR2 RBFOX2 ZNF24 SP1 SOX13 ELK4 NR2C2 TEAD1 TFDP1 GYG2 lnc-ARSD-6 ARSD
GH0XJ002847 Enhancer 0.5 ENCODE 4.6 +20.3 20302 2.4 CEBPA SP1 CEBPB TEAD1 ZC3H11A NFIL3 TEAD3 HLF CEBPG GYG2 GYG2-AS1 lnc-ARSD-6 ARSD
GH0XJ002783 Enhancer 0.3 FANTOM5 1.6 -45.0 -44999 0.3 ZNF512 ARSH GYG2 piR-59907-031 XG NONHSAG055779.2-001
GH0XJ002894 Enhancer 1.5 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 0.2 +68.7 68667 5.8 CREB1 LEF1 ZHX2 FOXA1 PHF21A NR2C1 SP1 HDAC1 GABPA SOX6 HSALNG0136394 ARSH ARSD ARSL ARSD-AS1 GYG2
GH0XJ002802 Enhancer 0.8 ENCODE dbSUPER 0.4 -24.6 -24592 3.5 IKZF1 ZIC2 MGA CTBP1 FOSL1 TCF7L2 DPF2 ATF3 FOS JUN NONHSAG055779.2-001 piR-59907-031 GYG2 XG
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GYG2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GYG2

Genomic Locations for GYG2 Gene

Genomic Locations for GYG2 Gene
chrX:2,828,712-2,882,820
(GRCh38/hg38)
Size:
54,109 bases
Orientation:
Plus strand
chrX:2,746,829-2,800,861
(GRCh37/hg19)
Size:
54,033 bases
Orientation:
Plus strand

Genomic View for GYG2 Gene

Genes around GYG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GYG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GYG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GYG2 Gene

Proteins for GYG2 Gene

  • Protein details for GYG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15488-GLYG2_HUMAN
    Recommended name:
    Glycogenin-2
    Protein Accession:
    O15488
    Secondary Accessions:
    • B7WNN6
    • O15485
    • O15486
    • O15487
    • O15489
    • O15490

    Protein attributes for GYG2 Gene

    Size:
    501 amino acids
    Molecular mass:
    55184 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homodimer, tightly complexed to glycogen synthase.

    Three dimensional structures from OCA and Proteopedia for GYG2 Gene

    Alternative splice isoforms for GYG2 Gene

neXtProt entry for GYG2 Gene

Selected DME Specific Peptides for GYG2 Gene

O15488:
  • TDQAFVTL
  • SAAPDPGWPDCFNSGVFV
  • TLTKLHCW
  • AKVVHFLG

Post-translational modifications for GYG2 Gene

  • Self-glycosylated by the transfer of glucose residues from UDP-glucose to itself, forming an alpha-1,4-glycan of around 10 residues attached to Tyr-228.
  • Glycosylation at Tyr228
  • Modification sites at PhosphoSitePlus

Domains & Families for GYG2 Gene

Gene Families for GYG2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for GYG2 Gene

InterPro:
Blocks:
  • Glycosyl transferase, family 8
ProtoNet:

Suggested Antigen Peptide Sequences for GYG2 Gene

GenScript: Design optimal peptide antigens:
  • Glycogenin-2 (GLYG2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O15488

UniProtKB/Swiss-Prot:

GLYG2_HUMAN :
  • Belongs to the glycosyltransferase 8 family. Glycogenin subfamily.
Family:
  • Belongs to the glycosyltransferase 8 family. Glycogenin subfamily.
genes like me logo Genes that share domains with GYG2: view

Function for GYG2 Gene

Molecular function for GYG2 Gene

UniProtKB/Swiss-Prot Function:
Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-tyrosyl-[glycogenin] + UDP-alpha-D-glucose = alpha-D-glucosyl-L-tyrosyl-[glycogenin] + H(+) + UDP; Xref=Rhea:RHEA:23360, Rhea:RHEA-COMP:14604, Rhea:RHEA-COMP:14605, ChEBI:CHEBI:15378, ChEBI:CHEBI:46858, ChEBI:CHEBI:58223, ChEBI:CHEBI:58885, ChEBI:CHEBI:140573; EC=2.4.1.186; Evidence={ECO:0000269|PubMed:9346895, ECO:0000269|PubMed:9857012};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[1,4-alpha-D-glucosyl](n)-L-tyrosyl-[glycogenin] + UDP-alpha-D-glucose = [1,4-alpha-D-glucosyl](n+1)-L-tyrosyl-[glycogenin] + H(+) + UDP; Xref=Rhea:RHEA:56560, Rhea:RHEA-COMP:14606, Rhea:RHEA-COMP:14607, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:58885, ChEBI:CHEBI:140574; EC=2.4.1.186; Evidence={ECO:0000269|PubMed:9346895, ECO:0000269|PubMed:9857012};.
GENATLAS Biochemistry:
glycogenin self glycosylating protein 2,interacting with GYG,involved in initiation phase of glycogen biosynthesis,preferentially expressed in liver,heart and pancreas with several tissue specific,alternatively spliced isoforms

Enzyme Numbers (IUBMB) for GYG2 Gene

Gene Ontology (GO) - Molecular Function for GYG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008466 glycogenin glucosyltransferase activity EXP,IDA 9857012
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0046872 metal ion binding IEA --
GO:0102751 UDP-alpha-D-glucose:glucosyl-glycogenin alpha-D-glucosyltransferase activity IEA --
genes like me logo Genes that share ontologies with GYG2: view
genes like me logo Genes that share phenotypes with GYG2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GYG2

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GYG2 Gene

Localization for GYG2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GYG2 gene
Compartment Confidence
cytosol 5
nucleus 3
extracellular 2
golgi apparatus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GYG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with GYG2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GYG2 Gene

Pathways & Interactions for GYG2 Gene

genes like me logo Genes that share pathways with GYG2: view

Pathways by source for GYG2 Gene

UniProtKB/Swiss-Prot O15488-GLYG2_HUMAN

  • Pathway: Glycan biosynthesis; glycogen biosynthesis.

Gene Ontology (GO) - Biological Process for GYG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005978 glycogen biosynthetic process TAS --
genes like me logo Genes that share ontologies with GYG2: view

No data available for SIGNOR curated interactions for GYG2 Gene

Drugs & Compounds for GYG2 Gene

(3) Drugs for GYG2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 56
Uridine 5'-diphosphate Experimental Pharma 0
Uridine diphosphate glucose Experimental Pharma 0

(1) Additional Compounds for GYG2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Glycogen
  • Animal starch
  • Liver starch
  • Lyoglycogen
  • Phytoglycogen
9005-79-2
genes like me logo Genes that share compounds with GYG2: view

Transcripts for GYG2 Gene

mRNA/cDNA for GYG2 Gene

5 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GYG2

Alternative Splicing Database (ASD) splice patterns (SP) for GYG2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c · 14d
SP1: - -
SP2: - -
SP3:
SP4: - -
SP5: - -
SP6: -
SP7: - -
SP8: - - -

Relevant External Links for GYG2 Gene

GeneLoc Exon Structure for
GYG2

Expression for GYG2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GYG2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GYG2 Gene

This gene is overexpressed in Adipose - Subcutaneous (x10.4), Adipose - Visceral (Omentum) (x9.2), Breast - Mammary Tissue (x4.8), and Brain - Spinal cord (cervical c-1) (x4.4).

Protein differential expression in normal tissues from HIPED for GYG2 Gene

This gene is overexpressed in Liver (28.8), Retina (13.9), Spinal cord (10.8), and Fetal Brain (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GYG2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GYG2

SOURCE GeneReport for Unigene cluster for GYG2 Gene:

Hs.567381

mRNA Expression by UniProt/SwissProt for GYG2 Gene:

O15488-GLYG2_HUMAN
Tissue specificity: Detected in liver (at protein level) (PubMed:9857012). Expressed preferentially in liver, heart, and pancreas (PubMed:9346895).

Evidence on tissue expression from TISSUES for GYG2 Gene

  • Skin(4.5)
  • Liver(4.4)
  • Nervous system(2.3)
genes like me logo Genes that share expression patterns with GYG2: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for GYG2 Gene

Orthologs for GYG2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GYG2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GYG2 30 31
  • 99.13 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GYG2 30 31
  • 79.72 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GYG2 30 31
  • 76.63 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GYG2 31
  • 62 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GYG2 31
  • 57 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GYG2 30 31
  • 61.22 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GYG2 31
  • 55 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gyg2 30
  • 60.03 (n)
Zebrafish
(Danio rerio)
Actinopterygii gyg2 31
  • 44 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Glycogenin 31
  • 24 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea gyg-1 30 31
  • 56.85 (n)
ManyToMany
T25E12.5 32
  • 50 (a)
Y73F8A.31 32
  • 46 (a)
M116.2 31 32
  • 45 (a)
ManyToMany
gyg-2 31
  • 45 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLG2 31
  • 24 (a)
ManyToMany
GLG1 31
  • 18 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 50 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2083 30
Species where no ortholog for GYG2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for GYG2 Gene

ENSEMBL:
Gene Tree for GYG2 (if available)
TreeFam:
Gene Tree for GYG2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GYG2: view image

Paralogs for GYG2 Gene

Paralogs for GYG2 Gene

(1) SIMAP similar genes for GYG2 Gene using alignment to 3 proteins:

  • GLYG2_HUMAN
  • E5RIC9_HUMAN
  • J3QSZ3_HUMAN

Pseudogenes.org Pseudogenes for GYG2 Gene

genes like me logo Genes that share paralogs with GYG2: view

Variants for GYG2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GYG2 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
667519 Likely Benign: not provided 2,828,991(+) G/GC INTRON_VARIANT
669492 Benign: not provided 2,856,949(+) G/T INTRON_VARIANT
672601 Benign: not provided 2,875,502(+) GACTCACATCACCTCC INTRON_VARIANT
672602 Benign: not provided 2,876,176(+) G/C INTRON_VARIANT
673078 Likely Benign: not provided 2,854,779(+) A/G INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for GYG2 Gene

Structural Variations from Database of Genomic Variants (DGV) for GYG2 Gene

Variant ID Type Subtype PubMed ID
dgv1392e199 CNV deletion 23128226
dgv264e55 CNV gain 17911159
esv2739883 CNV deletion 23290073
esv2739888 CNV deletion 23290073
esv2739889 CNV deletion 23290073
esv2739890 CNV deletion 23290073
esv2739891 CNV deletion 23290073
esv2739892 CNV deletion 23290073
esv2739893 CNV deletion 23290073
esv2739894 CNV deletion 23290073
esv2758855 CNV gain 17122850
esv32744 CNV loss 17666407
esv34985 CNV gain 17911159
esv3573433 CNV loss 25503493
esv3576721 CNV gain 25503493
nsv1115252 CNV deletion 24896259
nsv1142563 CNV tandem duplication 24896259
nsv1152581 CNV duplication 26484159
nsv516388 CNV gain 19592680
nsv526612 CNV loss 19592680

Variation tolerance for GYG2 Gene

Residual Variation Intolerance Score: 74.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.48; 64.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GYG2 Gene

Human Gene Mutation Database (HGMD)
GYG2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GYG2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GYG2 Gene

Disorders for GYG2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for GYG2 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GYG2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GYG2

genes like me logo Genes that share disorders with GYG2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GYG2 Gene

Publications for GYG2 Gene

  1. Characterization of human glycogenin-2, a self-glucosylating initiator of liver glycogen metabolism. (PMID: 9857012) Mu J … Roach PJ (The Journal of biological chemistry 1998) 2 3 4 23
  2. Structure and chromosomal localization of the human glycogenin-2 gene GYG2. (PMID: 10721716) Zhai L … Roach PJ (Gene 2000) 3 4 23
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Cluster analysis of an extensive human breast cancer cell line protein expression map database. (PMID: 11840567) Harris RA … Zvelebil MJ (Proteomics 2002) 3 4
  5. Glycogenin-2, a novel self-glucosylating protein involved in liver glycogen biosynthesis. (PMID: 9346895) Mu J … Roach PJ (The Journal of biological chemistry 1997) 3 4

Products for GYG2 Gene

Sources for GYG2 Gene