Entity Details

Primary name G6PC3
Entity type gene
Source Source Link

Details

PrimaryID92579
RefseqGeneNG_015818
SymbolG6PC3
Nameglucose-6-phosphatase catalytic subunit 3
Chromosome17
Location17q21.31
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-07-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsG6PC3_HUMAN

GO terms

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GOName
GO:0004346 glucose-6-phosphatase activity
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0006094 gluconeogenesis
GO:0015760 glucose-6-phosphate transport
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0051156 glucose 6-phosphate metabolic process

Diseases

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Disease IDSourceNameDescription
612541 OMIMNeutropenia, severe congenital 4, autosomal recessive (SCN4)A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. The disease is caused by variants affecting the gene represented in this entry.
612541 OMIMNeutropenia, severe congenital 4, autosomal recessive (SCN4)A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. The disease is caused by variants affecting the gene represented in this entry.

Interactions

5 interactions

InteractorPartnerSourcesPublicationsLink
G6PC3CCR9BioGRID, MINT28298427 details
G6PC3GPR37BioGRID, MINT28298427 details
G6PC3HTR2BBioGRID, MINT28298427 details
G6PC3PCNAUniProt26030842 details
G6PC3NR2C2BioGRID30463901 details