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    GYG2 glycogenin 2 [ Homo sapiens (human) ]

    Gene ID: 8908, updated on 3-Apr-2024

    Summary

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    Official Symbol
    GYG2provided by HGNC
    Official Full Name
    glycogenin 2provided by HGNC
    Primary source
    HGNC:HGNC:4700
    See related
    Ensembl:ENSG00000056998 MIM:300198; AllianceGenome:HGNC:4700
    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
    all
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    Genomic context

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    Location:
    Xp22.33
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (2828930..2882818)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (2441715..2495327)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (2746971..2800859)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene CD99 molecule (Xg blood group) Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:2699593-2700274 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2700956-2701636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2701637-2702317 Neighboring gene Xg glycoprotein (Xg blood group) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2711950-2712538 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2717356-2718298 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2718299-2719240 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2721222-2721887 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:2722445-2723644 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:2764748-2764850 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2766248-2766874 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:2807746-2808337 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:2809856-2810546 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2815103-2815898 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2815899-2816694 Neighboring gene ARSD antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:2841876-2842386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:2842387-2842896 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20638 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20639 Neighboring gene arylsulfatase D Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2878567-2879390 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2879391-2880216 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:2881867-2882690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29373 Neighboring gene arylsulfatase L

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Glycogen Synthesis in Glycogenin 1-Deficient Patients: A Role for Glycogenin 2 in Muscle. Krag TO, et al. J Clin Endocrinol Metab, 2017 Aug 1. PMID 28453664
    2. Glycogenin-2 is dispensable for liver glycogen synthesis and glucagon-stimulated glucose release. Irgens HU, et al. J Clin Endocrinol Metab, 2015 May. PMID 25751106
    3. LC-MS/MS characterization of combined glycogenin-1 and glycogenin-2 enzymatic activities reveals their self-glucosylation preferences. Nilsson J, et al. Biochim Biophys Acta, 2014 Feb. PMID 24239874
    4. Crystal structure of the autocatalytic initiator of glycogen biosynthesis, glycogenin. Gibbons BJ, et al. J Mol Biol, 2002 May 31. PMID 12051921
    5. Structure and chromosomal localization of the human glycogenin-2 gene GYG2. Zhai L, et al. Gene, 2000 Jan 25. PMID 10721716

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Transcriptome-wide analysis reveals GYG2 as a mitochondria-related aging biomarker in human subcutaneous adipose tissue.
      Title: Transcriptome-wide analysis reveals GYG2 as a mitochondria-related aging biomarker in human subcutaneous adipose tissue.
    2. Study demonstrates expression of glycogenin 2 in glycogenin 1-deficient patients, suggesting that glycogenin 2 rescues the formation of glycogen in patients with glycogenin 1 deficiency.
      Title: Glycogen Synthesis in Glycogenin 1-Deficient Patients: A Role for Glycogenin 2 in Muscle.
    3. This is the first evaluation of humans without GN2 expression. Our data indicate that GN2 is not required for liver glycogen synthesis and glucagon-stimulated glucose release.
      Title: Glycogenin-2 is dispensable for liver glycogen synthesis and glucagon-stimulated glucose release.
    4. The glucosylation of glycogenin-2 was enhanced to 2-4 glucose units by the co-presence of enzymatically active glycogenin-1.
      Title: LC-MS/MS characterization of combined glycogenin-1 and glycogenin-2 enzymatic activities reveals their self-glucosylation preferences.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

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

    General protein information

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    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
    XP_047298564.1
    XP_047298565.1
    XP_047298566.1
    XP_047298567.1
    XP_047298568.1
    XP_047298569.1
    XP_054184024.1
    XP_054184025.1
    XP_054184026.1
    XP_054184027.1
    XP_054184028.1
    XP_054184029.1
    XP_054184030.1
    XP_054184031.1
    XP_054184032.1
    XP_054184033.1
    XP_054184034.1
    XP_054184035.1

    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_021257.1 RefSeqGene

      Range
      5109..58997
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001079855.2 → NP_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/TrEMBL
      Q1ZYL7
      Related
      ENSP00000381786.3, ENST00000398806.8
      Conserved Domains (1) summary
      cd02537
      Location:6 → 257
      GT8_Glycogenin; Glycogenin belongs the GT 8 family and initiates the biosynthesis of glycogen

    2. NM_001184702.2 → NP_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/TrEMBL
      Q1ZYL7
      Conserved Domains (2) summary
      cd02537
      Location:6 → 257
      GT8_Glycogenin; Glycogenin belongs the GT 8 family and initiates the biosynthesis of glycogen
      COG1442
      Location:11 → 275
      RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]

    3. NM_001184703.2 → NP_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/TrEMBL
      Q1ZYL7
      Related
      ENSP00000487294.1, ENST00000353656.10
      Conserved Domains (2) summary
      cd02537
      Location:37 → 288
      GT8_Glycogenin; Glycogenin belongs the GT 8 family and initiates the biosynthesis of glycogen
      COG1442
      Location:42 → 306
      RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]

    4. NM_001184704.2 → NP_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
      UniProtKB/TrEMBL
      B3KUV6
      Related
      ENST00000381161.5
      Conserved Domains (1) summary
      cl11394
      Location:1 → 102
      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_003918.3 → NP_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
      B7WNN6, O15485, O15486, O15487, O15488, O15489, O15490
      UniProtKB/TrEMBL
      Q1ZYL7
      Related
      ENSP00000370555.3, ENST00000381163.7
      Conserved Domains (2) summary
      cd02537
      Location:37 → 288
      GT8_Glycogenin; Glycogenin belongs the GT 8 family and initiates the biosynthesis of glycogen
      COG1442
      Location:42 → 306
      RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      2828930..2882818
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029928.2 → XP_016885417.1  glycogenin-2 isoform X1

      UniProtKB/Swiss-Prot
      B7WNN6, O15485, O15486, O15487, O15488, O15489, O15490
      UniProtKB/TrEMBL
      Q1ZYL7
      Conserved Domains (2) summary
      cd02537
      Location:37 → 288
      GT8_Glycogenin; Glycogenin belongs the GT 8 family and initiates the biosynthesis of glycogen
      COG1442
      Location:42 → 306
      RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]

    2. XM_047442608.1 → XP_047298564.1  glycogenin-2 isoform X2

    3. XM_047442609.1 → XP_047298565.1  glycogenin-2 isoform X3

    4. XM_047442610.1 → XP_047298566.1  glycogenin-2 isoform X4

    5. XM_047442613.1 → XP_047298569.1  glycogenin-2 isoform X6

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

      UniProtKB/TrEMBL
      Q1ZYL7
      Conserved Domains (2) summary
      cd02537
      Location:37 → 288
      GT8_Glycogenin; Glycogenin belongs the GT 8 family and initiates the biosynthesis of glycogen
      COG1442
      Location:42 → 306
      RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]

    7. XM_017029930.2 → XP_016885419.1  glycogenin-2 isoform X6

      UniProtKB/TrEMBL
      Q1ZYL7
      Conserved Domains (2) summary
      cd02537
      Location:6 → 257
      GT8_Glycogenin; Glycogenin belongs the GT 8 family and initiates the biosynthesis of glycogen
      COG1442
      Location:11 → 275
      RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]

    8. XM_017029927.2 → XP_016885416.1  glycogenin-2 isoform X1

      UniProtKB/Swiss-Prot
      B7WNN6, O15485, O15486, O15487, O15488, O15489, O15490
      UniProtKB/TrEMBL
      Q1ZYL7
      Conserved Domains (2) summary
      cd02537
      Location:37 → 288
      GT8_Glycogenin; Glycogenin belongs the GT 8 family and initiates the biosynthesis of glycogen
      COG1442
      Location:42 → 306
      RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]

    9. XM_047442612.1 → XP_047298568.1  glycogenin-2 isoform X5

    10. XM_011545600.3 → XP_011543902.1  glycogenin-2 isoform X3

      See identical proteins and their annotated locations for XP_011543902.1

      UniProtKB/TrEMBL
      Q1ZYL7
      Conserved Domains (1) summary
      cd02537
      Location:6 → 257
      GT8_Glycogenin; Glycogenin belongs the GT 8 family and initiates the biosynthesis of glycogen

    11. XM_047442611.1 → XP_047298567.1  glycogenin-2 isoform X4

    12. XM_017029931.2 → XP_016885420.1  glycogenin-2 isoform X6

      UniProtKB/TrEMBL
      Q1ZYL7
      Conserved Domains (2) summary
      cd02537
      Location:6 → 257
      GT8_Glycogenin; Glycogenin belongs the GT 8 family and initiates the biosynthesis of glycogen
      COG1442
      Location:11 → 275
      RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      2441715..2495327
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328052.1 → XP_054184027.1  glycogenin-2 isoform X1

    2. XM_054328050.1 → XP_054184025.1  glycogenin-2 isoform X2

    3. XM_054328058.1 → XP_054184033.1  glycogenin-2 isoform X6

    4. XM_054328054.1 → XP_054184029.1  glycogenin-2 isoform X3

      UniProtKB/TrEMBL
      A8K8Y1

    5. XM_054328056.1 → XP_054184031.1  glycogenin-2 isoform X4

    6. XM_054328060.1 → XP_054184035.1  glycogenin-2 isoform X6

    7. XM_054328051.1 → XP_054184026.1  glycogenin-2 isoform X2

    8. XM_054328057.1 → XP_054184032.1  glycogenin-2 isoform X5

    9. XM_054328059.1 → XP_054184034.1  glycogenin-2 isoform X6

    10. XM_054328049.1 → XP_054184024.1  glycogenin-2 isoform X1

    11. XM_054328055.1 → XP_054184030.1  glycogenin-2 isoform X4

    12. XM_054328053.1 → XP_054184028.1  glycogenin-2 isoform X3

      UniProtKB/TrEMBL
      A8K8Y1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15488.2 GenPept UniProtKB/Swiss-Prot:O15488

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