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    G6PC2 glucose-6-phosphatase catalytic subunit 2 [ Homo sapiens (human) ]

    Gene ID: 57818, updated on 28-Jun-2021

    Summary

    Official Symbol
    G6PC2provided by HGNC
    Official Full Name
    glucose-6-phosphatase catalytic subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:28906
    See related
    Ensembl:ENSG00000152254 MIM:608058
    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
    IGRP
    Summary
    This gene encodes an enzyme belonging to the glucose-6-phosphatase catalytic subunit family. These enzymes are part of a multicomponent integral membrane system that catalyzes the hydrolysis of glucose-6-phosphate, the terminal step in gluconeogenic and glycogenolytic pathways, allowing the release of glucose into the bloodstream. The family member encoded by this gene is found in pancreatic islets and does not exhibit phosphohydrolase activity, but it is a major target of cell-mediated autoimmunity in diabetes. Several alternatively spliced transcript variants of this gene have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in pancreas (RPKM 3.9), testis (RPKM 0.4) and 1 other tissue See more
    Orthologs
    NEW
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    Genomic context

    See G6PC2 in Genome Data Viewer
    Location:
    2q31.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (168901223..168910000)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (169757801..169766510)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ceramide synthase 6 Neighboring gene CERS6 antisense RNA 1 Neighboring gene nitric oxide synthase trafficking Neighboring gene SPC25 component of NDC80 kinetochore complex Neighboring gene ATP binding cassette subfamily B member 11 Neighboring gene Sharpr-MPRA regulatory region 4346

    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?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
    GeneReviews: Not available
    A polymorphism within the G6PC2 gene is associated with fasting plasma glucose levels.
    GeneReviews: Not available
    Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.
    GeneReviews: Not available
    Fasting glucose GWAS candidate region analysis across ethnic groups in the Multiethnic Study of Atherosclerosis (MESA).
    GeneReviews: Not available
    Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
    GeneReviews: Not available
    Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
    GeneReviews: Not available
    Genome-wide association study identifies common loci influencing circulating glycated hemoglobin (HbA1c) levels in non-diabetic subjects: the Long Life Family Study (LLFS).
    GeneReviews: Not available
    Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
    GeneReviews: Not available
    Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.
    GeneReviews: Not available
    Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.
    GeneReviews: Not available
    Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
    GeneReviews: Not available
    New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
    GeneReviews: Not available
    Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study.
    GeneReviews: Not available
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    GeneReviews: Not available
    Variants in MTNR1B influence fasting glucose levels.
    GeneReviews: Not available
    Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels.
    GeneReviews: Not available

    Pathways from PubChem

    General gene information

    Markers

    Homology

    Clone Names

    • MGC141936

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glucose-6-phosphatase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables glucose-6-phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gluconeogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in gluconeogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gluconeogenesis TAS
    Traceable Author Statement
    more info
     
    involved_in glucose 6-phosphate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in glucose homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of insulin secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    glucose-6-phosphatase 2
    Names
    G-6-Pase 2
    G6Pase 2
    glucose-6-phosphatase, catalytic, 2
    islet-specific G6CP-related protein
    islet-specific glucose-6-phosphatase catalytic subunit-related protein
    islet-specific glucose-6-phosphatase-related protein
    NP_001075155.1
    NP_066999.1
    XP_011509866.1
    XP_011509867.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_011682.1 RefSeqGene

      Range
      5052..13761
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001081686.2NP_001075155.1  glucose-6-phosphatase 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC069137, BC104778, BQ268961, CA865646, CR627438
      Consensus CDS
      CCDS46443.1
      UniProtKB/Swiss-Prot
      Q9NQR9
      Related
      ENSP00000396939.2, ENST00000429379.2
      Conserved Domains (1) summary
      cl00474
      Location:38140
      PAP2_like; PAP2_like proteins, a super-family of histidine phosphatases and vanadium haloperoxidases, includes type 2 phosphatidic acid phosphatase or lipid phosphate phosphatase (LPP), Glucose-6-phosphatase, Phosphatidylglycerophosphatase B and bacterial acid ...
    2. NM_021176.3NP_066999.1  glucose-6-phosphatase 2 isoform 1

      See identical proteins and their annotated locations for NP_066999.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC069137, BC104778, CA865646, CR627438
      Consensus CDS
      CCDS2230.1
      UniProtKB/Swiss-Prot
      Q9NQR9
      Related
      ENSP00000364512.3, ENST00000375363.8
      Conserved Domains (1) summary
      cd03381
      Location:38278
      PAP2_glucose_6_phosphatase; PAP2_like proteins, glucose-6-phosphatase subfamily. Glucose-6-phosphatase converts glucose-6-phosphate into free glucose and is active in the lumen of the endoplasmic reticulum, where it is bound to the membrane. The generation of free glucose is an ...

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      168901223..168910000
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511564.3XP_011509866.1  glucose-6-phosphatase 2 isoform X1

      See identical proteins and their annotated locations for XP_011509866.1

      Conserved Domains (1) summary
      cl00474
      Location:38202
      PAP2_like; PAP2_like proteins, a super-family of histidine phosphatases and vanadium haloperoxidases, includes type 2 phosphatidic acid phosphatase or lipid phosphate phosphatase (LPP), Glucose-6-phosphatase, Phosphatidylglycerophosphatase B and bacterial acid ...
    2. XM_011511565.3XP_011509867.1  glucose-6-phosphatase 2 isoform X2

      See identical proteins and their annotated locations for XP_011509867.1

      Conserved Domains (1) summary
      cl00474
      Location:1162
      PAP2_like; PAP2_like proteins, a super-family of histidine phosphatases and vanadium haloperoxidases, includes type 2 phosphatidic acid phosphatase or lipid phosphate phosphatase (LPP), Glucose-6-phosphatase, Phosphatidylglycerophosphatase B and bacterial acid ...

    Reference GRCh38.p13 ALT_REF_LOCI_1

    Genomic

    1. NW_003315909.1 Reference GRCh38.p13 ALT_REF_LOCI_1

      Range
      87918..96627
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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