G6PC3 (glucose-6-phosphatase catalytic subunit 3)

2012-05-01  

Identity

HGNC
G6PC3
LOCATION
17q21.31
LOCUSID
92579
ALIAS
SCN4,UGRP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 92579
MIM: 611045
HGNC: 24861
Ensembl: ENSG00000141349

Variants:

dbSNP: 92579
ClinVar: 92579
TCGA: ENSG00000141349
COSMIC: G6PC3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141349ENST00000269097Q9BUM1
ENSG00000141349ENST00000585361K7ENK1
ENSG00000141349ENST00000588558K7EQ13
ENSG00000141349ENST00000590253K7EJC5
ENSG00000141349ENST00000591696K7ESE6
ENSG00000141349ENST00000593115K7ENK1

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glycolysis / GluconeogenesisKEGGko00010
Galactose metabolismKEGGko00052
Starch and sucrose metabolismKEGGko00500
Insulin signaling pathwayKEGGko04910
Adipocytokine signaling pathwayKEGGko04920
Glycolysis / GluconeogenesisKEGGhsa00010
Galactose metabolismKEGGhsa00052
Starch and sucrose metabolismKEGGhsa00500
Insulin signaling pathwayKEGGhsa04910
Adipocytokine signaling pathwayKEGGhsa04920
Metabolic pathwaysKEGGhsa01100
Carbohydrate digestion and absorptionKEGGko04973
Carbohydrate digestion and absorptionKEGGhsa04973
PI3K-Akt signaling pathwayKEGGhsa04151
PI3K-Akt signaling pathwayKEGGko04151
FoxO signaling pathwayKEGGhsa04068
AMPK signaling pathwayKEGGhsa04152
AMPK signaling pathwayKEGGko04152
Glucagon signaling pathwayKEGGhsa04922
Glucagon signaling pathwayKEGGko04922
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Hexose transportREACTOMER-HSA-189200
Glucose transportREACTOMER-HSA-70153
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Insulin resistanceKEGGhsa04931

References

Pubmed IDYearTitleCitations
191183032009A syndrome with congenital neutropenia and mutations in G6PC3.93
123701222002Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein.30
204983022010Lack of glucose recycling between endoplasmic reticulum and cytoplasm underlies cellular dysfunction in glucose-6-phosphatase-beta-deficient neutrophils in a congenital neutropenia syndrome.29
213857942011G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction.28
206162192010Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis.27
216776672011Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia.20
129652222003Identification and characterisation of a new human glucose-6-phosphatase isoform.18
220508682012Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.16
202200652010Digenic mutations in severe congenital neutropenia.15
237587682013A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.15

Citation

Dessen P

G6PC3 (glucose-6-phosphatase catalytic subunit 3)

Atlas Genet Cytogenet Oncol Haematol. 2012-05-01

Online version: http://atlasgeneticsoncology.org/gene/52724/g6pc3