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Aliases for GYG2 Gene

Aliases for GYG2 Gene

  • Glycogenin 2 2 3 5
  • Glycogenin Glucosyltransferase 2 3
  • EC 2.4.1.186 4 61
  • GN-2 3 4
  • GN2 3 4
  • Glycogenin-2 3

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. Among its related pathways are Metabolism and Glycogen Metabolism. 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 for GYG2 Gene

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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GYG2 Gene

Genomics for GYG2 Gene

Regulatory Elements for GYG2 Gene

Enhancers for GYG2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF002847 1 Ensembl ENCODE 4.6 +20.2 20227 2.4 HDAC1 KLF1 SAP130 CEBPG TEAD3 CTBP1 GATA3 FOS ZNF687 RFX1 GYG2 GYG2-AS1
GH0XF002828 0.7 ENCODE 5.9 +0.1 107 0.2 ELK4 SAP130 KLF6 ZBTB7A RARA POLR2A RCOR2 BCL6 ZFX THAP11 GYG2 GYG2-AS1
GH0XF002783 0.6 FANTOM5 1.6 -45.1 -45076 0.3 MEF2D RAD51 POLR2A EED IKZF1 ZNF512 ARSH GYG2 XG
GH0XF002829 0.5 ENCODE 0.8 +0.4 407 0.2 POLR2A ZBTB7A ZFX GYG2 GYG2-AS1
GH0XF002802 1 Ensembl ENCODE 0.3 -24.7 -24668 3.5 JUN RAD21 ZIC2 ZNF366 ZNF157 HNF4G FOS TCF7L2 SMARCE1 RNF2 GYG2 XG
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GYG2 on UCSC Golden Path with GeneCards custom track

Promoters for GYG2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001915246 612 2001 SOX13 SAP130 RARA POLR2A ZNF652 EZH2 THAP11 GATAD2A ELK4 NFIA

Genomic Location for GYG2 Gene

Chromosome:
X
Start:
2,828,788 bp from pter
End:
2,882,820 bp from pter
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 Tyr 228
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for GYG2 Gene

Gene Families for GYG2 Gene

Protein Domains for GYG2 Gene

Suggested Antigen Peptide Sequences for GYG2 Gene

GenScript: Design optimal peptide antigens:

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

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
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-glucose + glycogenin = UDP + alpha-D-glucosylglycogenin.
UniProtKB/Swiss-Prot Function:
Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase.

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,IEA 9346895
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups 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

Flow Cytometry Products

No data available for 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
lysosome 4
nucleus 3
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GYG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0043202 lysosomal lumen 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 IEA,TAS --
GO:0005980 glycogen catabolic 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 34
Uridine diphosphate glucose Experimental Pharma 0
Uridine-5'-Diphosphate Experimental Pharma 0

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

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

Transcripts for GYG2 Gene

Unigene Clusters for GYG2 Gene

Glycogenin 2:
Representative Sequences:

Flow Cytometry Products

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
ECgene alternative splicing isoforms 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, PaxDb, MaxQB, and MOPED for GYG2 Gene



NURSA nuclear receptor signaling pathways regulating expression of GYG2 Gene:

GYG2

SOURCE GeneReport for Unigene cluster for GYG2 Gene:

Hs.567381

mRNA Expression by UniProt/SwissProt for GYG2 Gene:

O15488-GLYG2_HUMAN
Tissue specificity: Expressed preferentially in liver, heart, and pancreas.
genes like me logo Genes that share expression patterns with GYG2: view

Primer Products

No data available for Protein tissue co-expression partners 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 34 35
  • 99.13 (n)
dog
(Canis familiaris)
Mammalia GYG2 34 35
  • 79.72 (n)
cow
(Bos Taurus)
Mammalia GYG2 34 35
  • 76.63 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GYG2 35
  • 62 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GYG2 35
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves GYG2 34 35
  • 61.22 (n)
lizard
(Anolis carolinensis)
Reptilia GYG2 35
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gyg2 34
  • 60.03 (n)
zebrafish
(Danio rerio)
Actinopterygii gyg2 35
  • 44 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Glycogenin 35
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gyg-1 34 35
  • 56.85 (n)
T25E12.5 36
  • 50 (a)
M116.2 36 35
  • 49 (a)
Y73F8A.31 36
  • 46 (a)
gyg-2 35
  • 45 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLG2 35
  • 24 (a)
ManyToMany
GLG1 35
  • 18 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 50 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2083 34
Species where no ortholog for GYG2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for GYG2 Gene

Paralogs for GYG2 Gene

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

Pseudogenes.org Pseudogenes for GYG2 Gene

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

Variants for GYG2 Gene

Sequence variations from dbSNP and Humsavar for GYG2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs606231250 Uncertain significance 2,859,893(+) ACCTT(C/G)GAACT reference, missense
rs863223369 Uncertain significance 2,855,008(+) ATGTC(A/G)ATGAG reference, missense, utr-variant-5-prime
rs10156910 -- 2,845,597(+) tgtgt(A/G)tgtac intron-variant
rs10482433 -- 2,836,533(+) agcca(A/G)gtgtg intron-variant
rs10482442 -- 2,857,879(+) ttttg(A/C)tgcca intron-variant

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

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

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)

Relevant External Links for GYG2 Gene

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

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

Disorders for GYG2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GYG2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
glycogen storage disease type 0
  • glycogen storage disease 0
- elite association - COSMIC cancer census association via MalaCards
Search GYG2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GYG2

Human Genome Epidemiology (HuGE) Navigator
GYG2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 P.J. (J. Biol. Chem. 1998) 2 3 4 22 64
  2. Structure and chromosomal localization of the human glycogenin-2 gene GYG2. (PMID: 10721716) Zhai L. … Roach P.J. (Gene 2000) 3 4 22 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Cluster analysis of an extensive human breast cancer cell line protein expression map database. (PMID: 11840567) Harris R.A. … Zvelebil M.J. (Proteomics 2002) 3 4 64
  5. Glycogenin-2, a novel self-glucosylating protein involved in liver glycogen biosynthesis. (PMID: 9346895) Mu J. … Roach P.J. (J. Biol. Chem. 1997) 3 4 64

Products for GYG2 Gene

Sources for GYG2 Gene

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