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

Gene ID: 57818, updated on 24-Nov-2020

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

Genomic context

See G6PC2 in Genome Data Viewer
Location:
2q31.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (168901223..168910000)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (169757750..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 dehydrogenase/reductase 9

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

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 109.20201120

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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