HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
G6PC3
glucose-6-phosphatase catalytic subunit 3
Chromosome 17 Β· 17q21.31
NCBI Gene: 92579Ensembl: ENSG00000141349.10HGNC: HGNC:24861UniProt: A0A8Q3SIG5
60PubMed Papers
22Diseases
0Drugs
52Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
membraneglucose-6-phosphatase activityendoplasmic reticulumgluconeogenesisautosomal recessive severe congenital neutropenia due to G6PC3 deficiencysevere congenital neutropeniaimmunodeficiency diseasegenetic disorder
✦AI Summary

G6PC3 encodes glucose-6-phosphatase catalytic subunit 3, a ubiquitously expressed endoplasmic reticulum enzyme that hydrolyzes glucose-6-phosphate to glucose, functioning in gluconeogenesis and glycogenolysis 1. The enzyme likely operates as part of a complex with the glucose-6-phosphate transporter SLC37A4 to facilitate glucose production 2. Bi-allelic G6PC3 mutations cause severe congenital neutropenia type 4 (SCN4), a multi-system autosomal recessive disorder 1. Neutropenia results from defective metabolite repair leading to intracellular accumulation of 1,5-anhydroglucitol-6-phosphate (1,5-AG6P), which inhibits glycolysis in neutrophils and triggers increased apoptosis 34. Loss-of-function mutations reduce enzyme activity and induce endoplasmic reticulum stress 1. G6PC3 deficiency presents with severe congenital neutropenia, recurrent bacterial infections, thrombocytopenia, cardiac defects, and urogenital anomalies, with phenotypic heterogeneity including inflammatory bowel disease and growth retardation 15. SGLT2 inhibitors (empagliflozin, dapagliflozin) enhance urinary 1,5-AG excretion, reducing toxic metabolite accumulation and improving neutropenia and infections in pediatric patients 6. G-CSF treatment improves neutrophil numbers and prevents infections 1, while lentiviral gene therapy and vitamin B3 supplementation restore granulopoiesis in patient-derived iPSCs 7.

Sources cited
1
G6PC3 encodes ubiquitously expressed glucose-6-phosphatase; bi-allelic mutations cause severe congenital neutropenia type 4 with multi-system manifestations; loss of function results from decreased enzyme activity and ER stress
PMID: 23758768
2
G6PC3 mutations are associated with congenital neutropenia syndromes; involved in glucose metabolism
PMID: 20008220
3
G6PC3 deficiency causes severe congenital neutropenia type 4 driven by intracellular accumulation of 1,5-anhydroglucitol-6-phosphate inhibiting glycolysis
PMID: 39630167
4
Neutropenia in G6PC3 deficiency results from accumulation of 1,5-anhydroglucitol-6-phosphate; SGLT2 inhibitors enhance urinary excretion of the precursor metabolite
PMID: 40958355
5
Empagliflozin treatment in pediatric G6PC3 deficiency improves neutropenia, infections, and gastrointestinal health
PMID: 38635113
6
G6PC3 is classified as an immunometabolic monogenic IBD gene with expression across immune cell subsets
PMID: 34780721
7
G6PC3 mutations cause defects in granulopoiesis and increased apoptosis of neutrophils; lentiviral gene therapy and vitamin B3 restore granulopoiesis in patient iPSCs
PMID: 32051561
8
G6PC3 expression is upregulated in hypoxic glioblastoma neurospheres and associated with cancer stem cell phenotypes
PMID: 41317711
Disease Associationsβ“˜22
autosomal recessive severe congenital neutropenia due to G6PC3 deficiencyOpen Targets
0.86Strong
severe congenital neutropeniaOpen Targets
0.66Moderate
immunodeficiency diseaseOpen Targets
0.34Weak
genetic disorderOpen Targets
0.19Weak
neurodegenerative diseaseOpen Targets
0.19Weak
isolated agammaglobulinemiaOpen Targets
0.07Suggestive
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiencyOpen Targets
0.06Suggestive
infectionOpen Targets
0.06Suggestive
X-linked severe congenital neutropeniaOpen Targets
0.06Suggestive
neutrophil immunodeficiency syndromeOpen Targets
0.06Suggestive
Recurrent infection due to specific granule deficiencyOpen Targets
0.06Suggestive
immunodeficiency 86Open Targets
0.05Suggestive
autosomal recessive severe congenital neutropenia due to CSF3R deficiencyOpen Targets
0.05Suggestive
nonimmune chronic idiopathic neutropenia of adultsOpen Targets
0.05Suggestive
combined immunodeficiency due to moesin deficiencyOpen Targets
0.05Suggestive
neutropenia, severe congenital, 1, autosomal dominantOpen Targets
0.05Suggestive
autosomal recessive severe congenital neutropenia due to JAGN1 deficiencyOpen Targets
0.05Suggestive
primary immunodeficiency syndrome due to p14 deficiencyOpen Targets
0.05Suggestive
agammaglobulinemia 7, autosomal recessiveOpen Targets
0.05Suggestive
glioblastomaOpen Targets
0.05Suggestive
Dursun syndromeUniProt
Neutropenia, severe congenital 4, autosomal recessiveUniProt
Pathogenic Variants52
NM_138387.4(G6PC3):c.758G>A (p.Arg253His)Pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 253
NM_138387.4(G6PC3):c.210del (p.Phe71fs)Pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 71
NM_138387.4(G6PC3):c.207dup (p.Ile70fs)Pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 70
NM_138387.4(G6PC3):c.778G>C (p.Gly260Arg)Pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 260
NM_138387.4(G6PC3):c.765_766del (p.Ala257fs)Pathogenic
not provided|Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 257
NM_138387.4(G6PC3):c.481C>T (p.Arg161Ter)Pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 161
NM_138387.4(G6PC3):c.482G>A (p.Arg161Gln)Pathogenic
G6PC3-related disorder|Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 161
NM_138387.4(G6PC3):c.565C>T (p.Arg189Ter)Pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 189
NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser)Pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 44
NM_138387.4(G6PC3):c.325G>A (p.Gly109Ser)Likely pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 109
NM_138387.4(G6PC3):c.911dup (p.Gln305fs)Pathogenic
Inherited Immunodeficiency Diseases|Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
β˜…β˜…β˜†β˜†2023β†’ Residue 305
NM_138387.4(G6PC3):c.144C>A (p.Tyr48Ter)Pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 48
NM_138387.4(G6PC3):c.199_218+1delPathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency|not provided
β˜…β˜…β˜†β˜†2022
NM_138387.4(G6PC3):c.194A>C (p.Glu65Ala)Likely pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 65
NM_138387.4(G6PC3):c.295C>T (p.Gln99Ter)Pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 99
NM_138387.4(G6PC3):c.326G>T (p.Gly109Val)Pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 109
NM_138387.4(G6PC3):c.218+1G>APathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
β˜…β˜†β˜†β˜†2025
NM_138387.4(G6PC3):c.373_385del (p.Ile125fs)Pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 125
NM_138387.4(G6PC3):c.210_213del (p.Phe71fs)Pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 71
NM_138387.4(G6PC3):c.246G>A (p.Trp82Ter)Pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 82
View on ClinVar β†—
Related Genes
PCProtein interaction99%ALDOAProtein interaction98%ALDOBProtein interaction98%ALDOCProtein interaction98%AKR1B1Protein interaction98%G6PDProtein interaction98%
Tissue Expression6 tissues
Brain
100%
Heart
72%
Ovary
70%
Lung
68%
Bone Marrow
40%
Liver
38%
Gene Interaction Network
Click a node to explore
G6PC3PCALDOAALDOBALDOCAKR1B1G6PD
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9BUM1
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.01LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.74 [0.55–1.01]
RankingsWhere G6PC3 stands among ~20K protein-coding genes
  • #7,661of 20,598
    Most Researched60
  • #1,295of 5,498
    Most Pathogenic Variants52 Β· top quartile
  • #9,791of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedG6PC3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 25879134
1.00
2
Dapagliflozin and Empagliflozin in Paediatric Indications: A Systematic Review.
PMID: 38635113
Paediatr Drugs Β· 2024
0.90
3
Congenital neutropenia.
PMID: 20008220
Hematology Am Soc Hematol Educ Program Β· 2009
0.80
4
Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency.
PMID: 39630167
J Clin Immunol Β· 2024
0.70
5
An Integrated Taxonomy for Monogenic Inflammatory Bowel Disease.
PMID: 34780721
Gastroenterology Β· 2022
0.60