Format

Send to:

Choose Destination

GYG2 glycogenin 2 [ Homo sapiens (human) ]

Gene ID: 8908, updated on 11-Sep-2019

Summary

Official Symbol
GYG2provided by HGNC
Official Full Name
glycogenin 2provided by HGNC
Primary source
HGNC:HGNC:4700
See related
Ensembl:ENSG00000056998 MIM:300198
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
Also known as
GN2; GN-2
Summary
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]
Expression
Biased expression in fat (RPKM 111.6) and liver (RPKM 4.8) See more
Orthologs

Genomic context

See GYG2 in Genome Data Viewer
Location:
Xp22.33
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (2828712..2882820)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (2746863..2800861)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene CD99 molecule (Xg blood group) Neighboring gene Xg glycoprotein (Xg blood group) Neighboring gene ARSD antisense RNA 1 Neighboring gene arylsulfatase D Neighboring gene arylsulfatase L

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

Pathways from BioSystems

  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases of carbohydrate metabolism, organism-specific biosystem (from REACTOME)
    Diseases of carbohydrate metabolism, organism-specific biosystemThe processes by which dietary carbohydrate is digested to monosaccharides and these are taken up from the gut lumen into cells where they are oxidized to yield energy or consumed in biosynthetic pro...
  • Diseases of metabolism, organism-specific biosystem (from REACTOME)
    Diseases of metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Glucose metabolism, organism-specific biosystem (from REACTOME)
    Glucose metabolism, organism-specific biosystemGlucose is the major form in which dietary sugars are made available to cells of the human body. Its breakdown is a major source of energy for all cells, and is essential for the brain and red blood ...
  • Glycogen Metabolism, organism-specific biosystem (from WikiPathways)
    Glycogen Metabolism, organism-specific biosystemGlycogen is a very large, branched polymer of glucose residues. Within skeletal muscle and liver glucose is stored as glycogen. In the liver, glycogen synthesis and degradation are regulated to maint...
  • Glycogen breakdown (glycogenolysis), organism-specific biosystem (from REACTOME)
    Glycogen breakdown (glycogenolysis), organism-specific biosystemCytosolic glycogen breakdown occurs via the same chemical steps in all tissues but is separately regulated via tissue specific isozymes and signaling pathways that enable distinct physiological fates...
  • Glycogen storage disease type 0 (liver GYS2), organism-specific biosystem (from REACTOME)
    Glycogen storage disease type 0 (liver GYS2), organism-specific biosystemGlycogen synthase 2 (GYS2 "liver") normally catalyzes the addition of glucose residues to a growing glycogen molecule. In its absence, glycogen synthesis fails. Expression of GYS2 is confined to the ...
  • Glycogen storage disease type II (GAA), organism-specific biosystem (from REACTOME)
    Glycogen storage disease type II (GAA), organism-specific biosystemGlycogen storage disease type II (GSD II - Pompe's disease) is caused by mutations that reduce or eliminate the activity of lysosomal alpha-glucosidase (GAA) (Hers 1963). The presentation of GSD II v...
  • Glycogen storage disease type IV (GBE1), organism-specific biosystem (from REACTOME)
    Glycogen storage disease type IV (GBE1), organism-specific biosystemNormally, cytosolic glycogen branching enzyme (GBE1) associated with glycogen granules transfers terminal alpha(1,4) glucose blocks to form alpha(1,6) branches on growing glycogen molecules of both l...
  • Glycogen storage diseases, organism-specific biosystem (from REACTOME)
    Glycogen storage diseases, organism-specific biosystemThe regulated turnover of glycogen plays a central, tissue-specific role in the maintenance of blood glucose levels and in the provision of glucose to tissues such as muscle and brain in response to ...
  • Glycogen synthesis, organism-specific biosystem (from REACTOME)
    Glycogen synthesis, organism-specific biosystemGlycogen, a highly branched glucose polymer, is formed and broken down in most human tissues, but is most abundant in liver and muscle, where it serves as a major stored fuel. Glycogen metabolism has...
  • Lysosomal glycogen catabolism, organism-specific biosystem (from REACTOME)
    Lysosomal glycogen catabolism, organism-specific biosystemWhile most glycogen is cytosolic, glycogen granules are also found in lysosomes, which they are thought to enter by autophagy. Once in lysosomes, the polysaccharide component of the granules is degra...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • Myoclonic epilepsy of Lafora, organism-specific biosystem (from REACTOME)
    Myoclonic epilepsy of Lafora, organism-specific biosystemLafora disease is a progressive neurodegenerative disorder with onset typically late in childhood, characterized by seizures and progressive neurological deterioration and death within ten years of o...
  • Starch and sucrose metabolism, organism-specific biosystem (from KEGG)
    Starch and sucrose metabolism, organism-specific biosystem
    Starch and sucrose metabolism
  • Starch and sucrose metabolism, conserved biosystem (from KEGG)
    Starch and sucrose metabolism, conserved biosystem
    Starch and sucrose metabolism
  • glycogen biosynthesis, organism-specific biosystem (from BIOCYC)
    glycogen biosynthesis, organism-specific biosystemGeneral Background : Glycogens "Glycogen" is a megadalton-sized glucose polymer and a major reservoir of readily available energy and carbon compounds in humans. The linkages between the glucose un...
  • glycogen biosynthesis II (from UDP-D-Glucose), conserved biosystem (from BIOCYC)
    glycogen biosynthesis II (from UDP-D-Glucose), conserved biosystemGeneral Background Glycogen is a highly branched glucose polymer that serves as a form of energy storage in animals and fungi. It resembles plant-produced |FRAME: Starch starch| and is sometimes cal...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
UDP-alpha-D-glucose:glucosyl-glycogenin alpha-D-glucosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
glycogenin glucosyltransferase activity EXP
Inferred from Experiment
more info
PubMed 
glycogenin glucosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycogenin glucosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
glycogen biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycogen biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
glycogen biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
glycogen biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
glycogenin-2
Names
glycogenin glucosyltransferase
NP_001073324.1
NP_001171631.1
NP_001171632.1
NP_001171633.1
NP_003909.2
XP_011543902.1
XP_016885416.1
XP_016885417.1
XP_016885418.1
XP_016885419.1
XP_016885420.1

NCBI Reference Sequences (RefSeq)

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_021257.1 RefSeqGene

    Range
    5001..58999
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001079855.2NP_001073324.1  glycogenin-2 isoform a

    See identical proteins and their annotated locations for NP_001073324.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an in-frame exon in the CDS, as compared to variant 2. The resulting isoform (a) lacks an internal segment, as compared to isoform b.
    Source sequence(s)
    BC023152, CB410312, U94361, U94362
    Consensus CDS
    CCDS48074.1
    UniProtKB/Swiss-Prot
    O15488
    Related
    ENSP00000381786.3, ENST00000398806.8
    Conserved Domains (2) summary
    cd02537
    Location:6257
    GT8_Glycogenin; Glycogenin belongs the GT 8 family and initiates the biosynthesis of glycogen
    COG1442
    Location:11275
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
  2. NM_001184702.1NP_001171631.1  glycogenin-2 isoform c

    See identical proteins and their annotated locations for NP_001171631.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon and a 3 nt segment in the CDS, as compared to variant 2. The resulting isoform (c, also known as beta) lacks an internal segment in the N-terminal region and an amino acid Q in the C-terminal region, as compared to isoform b.
    Source sequence(s)
    AC005295, U94361, U94362, U94363
    UniProtKB/Swiss-Prot
    O15488
    Conserved Domains (2) summary
    cd02537
    Location:6257
    GT8_Glycogenin; Glycogenin belongs the GT 8 family and initiates the biosynthesis of glycogen
    COG1442
    Location:11275
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
  3. NM_001184703.1NP_001171632.1  glycogenin-2 isoform d

    See identical proteins and their annotated locations for NP_001171632.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two consecutive in-frame exons in the 3' CDS, as compared to variant 2. The resulting isoform (d) lacks an internal segment in the C-terminal region, as compared to isoform b.
    Source sequence(s)
    AC005295, DQ424901, U94361, U94362
    Consensus CDS
    CCDS55365.1
    UniProtKB/Swiss-Prot
    O15488
    UniProtKB/TrEMBL
    Q1ZYL7
    Related
    ENSP00000487294.1, ENST00000353656.10
    Conserved Domains (2) summary
    cd02537
    Location:37288
    GT8_Glycogenin; Glycogenin belongs the GT 8 family and initiates the biosynthesis of glycogen
    COG1442
    Location:42306
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
  4. NM_001184704.1NP_001171633.1  glycogenin-2 isoform e

    See identical proteins and their annotated locations for NP_001171633.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two consecutive exons in the 5' CDS, resulting in a downstream in-frame AUG start codon, and also lacks two consecutive in-frame exons in the 3' CDS, as compared to variant 2. The resulting isoform (e) has a shorter N-terminus and lacks an internal segment in the C-terminal region, as compared to isoform b.
    Source sequence(s)
    AC005295, AK098046, U94361, U94362
    UniProtKB/Swiss-Prot
    O15488
    UniProtKB/TrEMBL
    B3KUV6
    Conserved Domains (1) summary
    cl11394
    Location:1102
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
  5. NM_003918.2NP_003909.2  glycogenin-2 isoform b

    See identical proteins and their annotated locations for NP_003909.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes the longest isoform (b, also known as alpha).
    Source sequence(s)
    BC023152, CB410312, U94361, U94362
    Consensus CDS
    CCDS14121.1
    UniProtKB/Swiss-Prot
    O15488
    Related
    ENSP00000370555.3, ENST00000381163.7
    Conserved Domains (2) summary
    cd02537
    Location:37288
    GT8_Glycogenin; Glycogenin belongs the GT 8 family and initiates the biosynthesis of glycogen
    COG1442
    Location:42306
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    2828712..2882820
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029929.1XP_016885418.1  glycogenin-2 isoform X2

    Conserved Domains (2) summary
    cd02537
    Location:37288
    GT8_Glycogenin; Glycogenin belongs the GT 8 family and initiates the biosynthesis of glycogen
    COG1442
    Location:42306
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
  2. XM_017029930.1XP_016885419.1  glycogenin-2 isoform X4

    Conserved Domains (2) summary
    cd02537
    Location:6257
    GT8_Glycogenin; Glycogenin belongs the GT 8 family and initiates the biosynthesis of glycogen
    COG1442
    Location:11275
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
  3. XM_017029928.1XP_016885417.1  glycogenin-2 isoform X1

    UniProtKB/Swiss-Prot
    O15488
    Conserved Domains (2) summary
    cd02537
    Location:37288
    GT8_Glycogenin; Glycogenin belongs the GT 8 family and initiates the biosynthesis of glycogen
    COG1442
    Location:42306
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
  4. XM_017029927.1XP_016885416.1  glycogenin-2 isoform X1

    UniProtKB/Swiss-Prot
    O15488
    Conserved Domains (2) summary
    cd02537
    Location:37288
    GT8_Glycogenin; Glycogenin belongs the GT 8 family and initiates the biosynthesis of glycogen
    COG1442
    Location:42306
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
  5. XM_011545600.2XP_011543902.1  glycogenin-2 isoform X3

    See identical proteins and their annotated locations for XP_011543902.1

    UniProtKB/Swiss-Prot
    O15488
    Conserved Domains (2) summary
    cd02537
    Location:6257
    GT8_Glycogenin; Glycogenin belongs the GT 8 family and initiates the biosynthesis of glycogen
    COG1442
    Location:11275
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
  6. XM_017029931.1XP_016885420.1  glycogenin-2 isoform X4

    Conserved Domains (2) summary
    cd02537
    Location:6257
    GT8_Glycogenin; Glycogenin belongs the GT 8 family and initiates the biosynthesis of glycogen
    COG1442
    Location:11275
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
Support Center