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Gene : G6PC3 Homo sapiens

Name  ? glucose-6-phosphatase catalytic subunit 3 Cytological Location  17q21.31
Brief Description  glucose-6-phosphatase catalytic subunit 3
description  This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
  • synonyms:
  • BC021574,
  • uc002iex.4,
  • SCN4,
  • UGRP,
  • OTTHUMG00000181805,
  • HGNC:24861,
  • NM_138387,
  • G6PC3,
  • UGRP,
  • glucose 6 phosphatase, catalytic, 3
  • identifiers:
  • 92579,
  • ENSG00000141349,
  • G6PC3

Genome feature

Region: gene ? Length: 5645  
Location: 17:44070700-44076344 Cyto location: 17q21.31


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

2011 SN Ps

4 Cross References

16 Data Sets

6 Homologues

0 Located Features

90 Rna Seq Results