glucose-6-phosphatase catalytic subunit 3

Summary
Gene Symbol
  • G6PC3
Aliases
  • UGRP
Organism
Homo sapiens (human)
External Links
NCBI Gene
92579
HGNC
24861
KEGG Gene ID
hsa:92579
PubChem
92579
Alliance of Genome Resources
Annotation
Keyword
  • Disease variant
  • Endoplasmic reticulum
  • Gluconeogenesis
  • Hydrolase
  • Proteomics identification
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying all 3 entries
UniProt Protein Name
A0A8Q3SIG5
Q9BUM1
  • Glucose-6-phosphatase beta
  • Ubiquitous glucose-6-phosphatase catalytic subunit-related protein
K7EJC5
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K01084
Name
glucose-6-phosphatase [EC:3.1.3.9]
References
Disease
Disease Ontology
Displaying entries 41 - 50 of 72 in total
DO ID Disease Name Source
DOID:1588 thrombocytopenia
DOID:162 cancer
DOID:1682 congenital heart disease
DOID:1882 atrial heart septal defect
DOID:1924 hypogonadism
DOID:2224 essential thrombocythemia
DOID:2326 gastroenteritis
DOID:2355 anemia
DOID:2361 macrocytic anemia
DOID:2747 glycogen storage disease
The Human Phenotype Ontology
Displaying entries 31 - 40 of 50 in total
HPO ID HPO Term
HP:0001903 Anemia
HP:0002092 Pulmonary arterial hypertension
HP:0002093 Respiratory insufficiency
HP:0002205 Recurrent respiratory infections
HP:0002240 Hepatomegaly
HP:0002619 Varicose veins
HP:0002718 Recurrent bacterial infections
HP:0002783 Recurrent lower respiratory tract infections
HP:0002788 Recurrent upper respiratory tract infections
HP:0003198 Myopathy
Displaying 1 entry
Disease ID Disease Name
OMIM:612541
  • autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Ortholog

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024