G6PC3 Glucose-6-phosphatase Catalytic Subunit 3 [ (human)] - NCBI

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Create FileAdd to ClipboardAdd to Collections G6PC3 glucose-6-phosphatase catalytic subunit 3 [ Homo sapiens (human) ] Gene ID: 92579, updated on 25-Nov-2025 Gene Sequences (FASTA) Transcript sequences (FASTA) Protein sequences(FASTA)

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Summary

Go to the top of the page Help Official Symbol G6PC3provided by HGNC Official Full Name glucose-6-phosphatase catalytic subunit 3provided by HGNC Primary source HGNC:HGNC:24861 See related Ensembl:ENSG00000141349 MIM:611045; AllianceGenome:HGNC:24861 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 SCN4; UGRP Summary This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in thyroid (RPKM 23.0), kidney (RPKM 18.2) and 25 other tissues See more Orthologs mouse all NEW Try the new Gene table Try the new Transcript table

Genomic context

Go to the top of the page Help See G6PC3 in Genome Data Viewer Location: 17q21.31 Exon count: 8
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (44070673..44076344)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (44923182..44928851)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42148041..42153712)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence: NC_000017.11 Chromosome 17 Reference GRCh38.p14 Primary Assembly NG_015818.1 RefSeqGene NC_060941.1 Chromosome 17 Alternate T2T-CHM13v2.0 NC_000017.10 Chromosome 17 Reference GRCh37.p13 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help See details Tissue-specific circular RNA induction during human fetal development RNA sequencing of total RNA from 20 human tissues HPA RNA-seq normal tissues
  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. Lentiviral gene therapy and vitamin B3 treatment enable granulocytic differentiation of G6PC3-deficient induced pluripotent stem cells. Hoffmann D, et al. Gene Ther, 2020 Jun. PMID 32051561
  2. A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family. Alangari AA, et al. J Clin Immunol, 2013 Nov. PMID 24105461
  3. A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations. Banka S, et al. Orphanet J Rare Dis, 2013 Jun 13. PMID 23758768, Free PMC Article
  4. Resolution of inflammatory colitis with pegfilgrastim treatment in a case of severe congenital neutropenia due to glucose 6 phosphatase catalytic subunit-3 deficiency. Kaya Z, et al. J Pediatr Hematol Oncol, 2014 Jul. PMID 24322501
  5. Testicular failure in a patient with G6PC3 deficiency. Yeshayahu Y, et al. Pediatr Res, 2014 Aug. PMID 24796372

See all (60) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. [Correction of the pathogenic mutation in the G6PC3 gene by adenine base editing in mutant embryos]. Title: [Correction of the pathogenic mutation in the G6PC3 gene by adenine base editing in mutant embryos].
  2. Severe Congenital Neutropenia Type 4: A Rare Disease Harboring a G6pc3 Gene Pathogenic Variant Particular to the Mexican Population. Title: Severe Congenital Neutropenia Type 4: A Rare Disease Harboring a G6pc3 Gene Pathogenic Variant Particular to the Mexican Population.
  3. Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review. Title: Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review.
  4. G6PC indicated poor prognosis in cervical cancer and promoted cervical carcinogenesis in vitro and in vivo. Title: G6PC indicated poor prognosis in cervical cancer and promoted cervical carcinogenesis in vitro and in vivo.
  5. Novel G6PC3 Mutations in Patients with Congenital Neutropenia: Case Reports and Review of the Literature. Title: Novel G6PC3 Mutations in Patients with Congenital Neutropenia: Case Reports and Review of the Literature.
  6. Altered Functions of Neutrophils in Two Chinese Patients With Severe Congenital Neutropenia Type 4 Caused by G6PC3 Mutations. Title: Altered Functions of Neutrophils in Two Chinese Patients With Severe Congenital Neutropenia Type 4 Caused by G6PC3 Mutations.
  7. A Novel Mutation in G6PC3 Gene Associated Non-syndromic Severe Congenital Neutropenia. Title: A Novel Mutation in G6PC3 Gene Associated Non-syndromic Severe Congenital Neutropenia.
  8. Lentiviral gene therapy and vitamin B3 treatment enable granulocytic differentiation of G6PC3-deficient induced pluripotent stem cells. Title: Lentiviral gene therapy and vitamin B3 treatment enable granulocytic differentiation of G6PC3-deficient induced pluripotent stem cells.
  9. The Transplantation Resistance of Type II Diabetes Mellitus Adipose-Derived Stem Cells Is Due to G6PC and IGF1 Genes Related to the FoxO Signaling Pathway. Title: The Transplantation Resistance of Type II Diabetes Mellitus Adipose-Derived Stem Cells Is Due to G6PC and IGF1 Genes Related to the FoxO Signaling Pathway.
  10. Deciphering Biochemical and Molecular Signatures Associated with Obesity in Context of Metabolic Health. Title: Deciphering Biochemical and Molecular Signatures Associated with Obesity in Context of Metabolic Health.
Submit: New GeneRIF Correction See all GeneRIFs (43)

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

Associated conditions

Description Tests
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MedGen: C2751630 OMIM: 612541 GeneReviews: G6PC3 Deficiency Compare labs

EBI GWAS Catalog

Description
A study assessing the association of glycated hemoglobin A1C (HbA1C) associated variants with HbA1C, chronic kidney disease and diabetic retinopathy in populations of Asian ancestry.EBI GWAS CatalogEBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

  • WI-17645 (e-PCR)
    • UniSTS:31975

Homology

  • NCBI Orthologs
    • Orthologs from OrthoDB

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables glucose-6-phosphatase activity EXP Inferred from Experimentmore info PubMed 
enables glucose-6-phosphatase activity IBA Inferred from Biological aspect of Ancestormore info  
enables glucose-6-phosphatase activity IEA Inferred from Electronic Annotationmore info  
enables glucose-6-phosphatase activity IMP Inferred from Mutant Phenotypemore info PubMed 
enables glucose-6-phosphatase activity TAS Traceable Author Statementmore info  
enables hydrolase activity IEA Inferred from Electronic Annotationmore info  
Process Evidence Code Pubs
involved_in gluconeogenesis IBA Inferred from Biological aspect of Ancestormore info  
involved_in gluconeogenesis IEA Inferred from Electronic Annotationmore info  
involved_in gluconeogenesis TAS Traceable Author Statementmore info  
involved_in glucose 6-phosphate metabolic process IBA Inferred from Biological aspect of Ancestormore info  
involved_in glucose 6-phosphate metabolic process IEA Inferred from Electronic Annotationmore info  
acts_upstream_of_or_within glucose-6-phosphate transport IEA Inferred from Electronic Annotationmore info  
Component Evidence Code Pubs
located_in endoplasmic reticulum IDA Inferred from Direct Assaymore info  
located_in endoplasmic reticulum IEA Inferred from Electronic Annotationmore info  
located_in endoplasmic reticulum membrane IEA Inferred from Electronic Annotationmore info  
located_in endoplasmic reticulum membrane TAS Traceable Author Statementmore info  
located_in membrane HDA more info PubMed 
is_active_in membrane IBA Inferred from Biological aspect of Ancestormore info  

General protein information

Go to the top of the page Help Preferred Names glucose-6-phosphatase 3 Names G-6-Pase 3 G6Pase 3 G6Pase-beta glucose 6 phosphatase, catalytic, 3 ubiquitous glucose-6-phosphatase catalytic subunit-related protein ubiquitously expressed G6Pase catalytic subunit-related protein NP_001306874.1
  • EC 3.1.3.9
NP_001371094.1
  • EC 3.1.3.9
NP_001371095.1
  • EC 3.1.3.9
NP_001371096.1
  • EC 3.1.3.9
NP_001371097.1
  • EC 3.1.3.9
NP_612396.1
  • EC 3.1.3.9
XP_011523776.1
  • EC 3.1.3.9
XP_054173776.1
  • EC 3.1.3.9

NCBI Reference Sequences (RefSeq)

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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_015818.1 RefSeqGene

    Range 5001..10615 Download GenBank, FASTA, Sequence Viewer (Graphics), LRG_182

mRNA and Protein(s)

  1. NM_001319945.2 → NP_001306874.1  glucose-6-phosphatase 3 isoform 4

    Status: REVIEWED

    Description Transcript Variant: This variant (4) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1. Source sequence(s) AC023855 Consensus CDS CCDS92335.1 UniProtKB/TrEMBL K7EJC5 Related ENSP00000465111.2, ENST00000590253.3 Conserved Domains (1) summary cl00474Location:38 → 141 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_001384165.1 → NP_001371094.1  glucose-6-phosphatase 3 isoform 2

    Status: REVIEWED

    Source sequence(s) AC023855 Consensus CDS CCDS92336.1 UniProtKB/TrEMBL A0A8Q3SIG5 Conserved Domains (1) summary cl00474Location:1 → 155 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 ...

  3. NM_001384166.1 → NP_001371095.1  glucose-6-phosphatase 3 isoform 2

    Status: REVIEWED

    Source sequence(s) AC023855 Consensus CDS CCDS92336.1 UniProtKB/TrEMBL A0A8Q3SIG5 Conserved Domains (1) summary cl00474Location:1 → 155 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 ...

  4. NM_001384167.1 → NP_001371096.1  glucose-6-phosphatase 3 isoform 2

    Status: REVIEWED

    Source sequence(s) AC023855 Consensus CDS CCDS92336.1 UniProtKB/TrEMBL A0A8Q3SIG5 Conserved Domains (1) summary cl00474Location:1 → 155 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 ...

  5. NM_001384168.1 → NP_001371097.1  glucose-6-phosphatase 3 isoform 2

    Status: REVIEWED

    Source sequence(s) AC023855 Consensus CDS CCDS92336.1 UniProtKB/TrEMBL A0A8Q3SIG5 Related ENSP00000512593.1, ENST00000696383.1 Conserved Domains (1) summary cl00474Location:1 → 155 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 ...

  6. NM_138387.4 → NP_612396.1  glucose-6-phosphatase 3 isoform 1

    See identical proteins and their annotated locations for NP_612396.1

    Status: REVIEWED

    Description Transcript Variant: This variant (1) encodes the longer isoform (1). Source sequence(s) AC023855 Consensus CDS CCDS11476.1 UniProtKB/Swiss-Prot Q8WU15, Q9BUM1 Related ENSP00000269097.3, ENST00000269097.9 Conserved Domains (1) summary cd03381Location:38 → 270 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: GCF_000001405.40-RS_2025_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range 44070673..44076344 Download GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525474.4 → XP_011523776.1  glucose-6-phosphatase 3 isoform X1

    See identical proteins and their annotated locations for XP_011523776.1

    UniProtKB/TrEMBL A0A8Q3SIG5 Conserved Domains (1) summary cl00474Location:1 → 155 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 ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range 44923182..44928851 Download GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054317801.1 → XP_054173776.1  glucose-6-phosphatase 3 isoform X1

    UniProtKB/TrEMBL A0A8Q3SIG5
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Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BUM1.2 GenPept UniProtKB/Swiss-Prot:Q9BUM1
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Locus-specific Databases

  • G6PC3 database

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
  • Interologous Interaction Database
    • Interologous Interaction Database
  • MilliporeSigma
    • G6pc3 products
Molecular Biology Databases
  • Bgee database
    • G6PC3 gene expression
  • BioGPS
    • BioGPS
  • BioGRID Open Repository of CRISPR Screens (ORCS)
    • BioGRID CRISPR Screen Phenotypes (16 hits/1438 screens)
  • CTD: Comparative Toxicogenomics Database
    • CTD: Comparative Toxicogenomics Database - G6PC3
  • Domain Mapping of Disease Mutations
    • G6PC3
  • Eukaryotic Promoter Database
    • G6PC3_1
  • GlyGen glycoinformatics resource
    • GlyGen glycoinformatics resource
  • Human eFP Browser
    • Human eFP Browser
    • Human eFP Browser
    • Human eFP Browser
  • Ingenuity Pathways Analysis
    • Ingenuity Pathways Analysis
  • InnateDB
    • InnateDB
  • InterMine
    • InterMine
  • Kyoto Encyclopedia of Genes and Genomes
    • Kyoto Encyclopedia of Genes and Genomes
  • OMA Browser: Orthologous MAtrix
    • OMA Browser: Orthologous MAtrix
  • OrthoDB catalog of orthologs
    • Orthologs
  • PhosphoSitePlus
    • PhosphoSitePlus® - comprehensive post-translational modification resource
  • The Weizmann Institute of Science GeneCards and MalaCards databases
    • GeneCard for G6PC3
Research Materials
  • Addgene Non-profit plasmid repository
    • Get Plasmids - Addgene
  • Bio-Techne
    • G6PC3 Lysates
    • G6PC3 Antibodies
    • G6PC3 Proteins
  • Creative Biogene
    • glucose 6 phosphatase, catalytic, 3
  • ExactAntigen/Labome
    • reagent review
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  • GenScript latest version of gene cDNA ORF Clone
    • GenScript latest version of gene cDNA ORF Clone
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    • Order shRNA clones
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    • Order miRNA target clones
Tools
  • GeneMANIA
    • GeneMANIA
Miscellaneous
  • Reactome
    • Reactome Event:Metabolism
    • Reactome Entity:Q9BUM1
    • Reactome Event:Disease
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Supplemental Content

Table of contents

  • Summary
  • Genomic context
  • Genomic regions, transcripts, and products
  • Expression
  • Bibliography
  • Phenotypes
  • Variation
  • Pathways from PubChem
  • Interactions
  • General gene information Markers, Homology, Gene Ontology
  • General protein information
  • NCBI Reference Sequences (RefSeq)
  • Related sequences
  • Additional links Locus-specific Databases

Genome Browsers

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Related information

  • Order cDNA clone Order cDNA clone
  • BioAssay by Target (List) BioAssays related to the gene by protein target or RNAi target
  • BioAssay, by Gene target PubChem BioAssays done on the Gene target
  • BioAssays, RNAi Target, Tested BioAssays that contain the gene as the target of a RNAi reagent
  • BioProjects BioProjects related to a gene
  • Books Books
  • CCDS Link to CCDS
  • ClinVar Related medical variations
  • Conserved Domains Related CDD
  • dbVar Link from Gene to dbVar
  • Full text in PMC PMC links
  • Full text in PMC_nucleotide Full text in PubMedCentral identified from shared sequence links
  • Functional Class Functional class of the sequence domain architecture
  • Gene neighbors Overlapping genes and two nearest non-overlapping genes on either side
  • Genes with a similar H3K4me3 profile Genes with a similar profile of promoter-activating H3K4me3 modifications across several tissue types
  • Genome Related Genome
  • GEO Profiles Related GEO
  • GTR Tests for this gene in the NIH Genetic Testing Registry
  • HomoloGene Related HomoloGene
  • MedGen Related information in MedGen
  • Nucleotide Link to related Nucleotide entry
  • OMIM Link to related OMIM entry
  • Protein Link to related protein entry
  • PubChem Compound PubChem Compounds
  • PubChem Substance PubChem Substances
  • PubMed Link to related PubMed entry
  • PubMed (GeneRIF) Link to related PubMed article from GeneRIFs
  • PubMed (OMIM) Gene links to PubMed derived from omim_pubmed_cited links
  • PubMed(nucleotide/PMC) Citations in PubMed identified from shared sequence and PMC links.
  • RefSeq Proteins Link to Protein RefSeqs
  • RefSeq RNAs Link to Nucleotide RefSeq RNAs
  • RefSeqGene Link to Nucleotide RefSeqGenes
  • Related gene-specific medical variations Related medical variations
  • SNP Related SNP records
  • Taxonomy Link to related taxonomy entry
  • Variation Viewer Related Variants

Links to other resources

  • HGNC
  • Ensembl
  • AllianceGenome
  • AceView
  • G6PC3 database
  • UCSC
  • MGC
  • HuGE Navigator
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