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 1 - 10 of 72 in total
DO ID Disease Name Source
DOID:0040085 bacterial sepsis
DOID:0050589 inflammatory bowel disease
DOID:0050590 severe congenital neutropenia
DOID:0050632 oculocutaneous albinism
DOID:0050908 myelodysplastic syndrome
DOID:0060180 colitis
DOID:0060189 ileitis
DOID:0060190 ileocolitis
DOID:0060192 Crohn's colitis
DOID:0110106 atrial heart septal defect 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 50 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000010 Recurrent urinary tract infections
HP:0000023 Inguinal hernia
HP:0000028 Cryptorchidism
HP:0000126 Hydronephrosis
HP:0000155 Oral ulcer
HP:0000175 Cleft palate
HP:0000218 High palate
HP:0000252 Microcephaly
HP:0000365 Hearing impairment
Displaying 1 entry
Disease ID Disease Name
OMIM:612541
  • autosomal recessive severe congenital neutropenia due to G6PC3 deficiency

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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