G6PC3
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
G6PC3 (HGNC:24861) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
glucose-6-phosphatase catalytic subunit 3
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
UGRP
%HI
43.93(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.01(Read more about gnomAD LOEUF score)
Cytoband
17q21.31
Genomic Coordinates
GRCh37/hg19: chr17:42148041-42153712 NCBI Ensembl UCSC
GRCh38/hg38: chr17:44070673-44076344 NCBI Ensembl UCSC
MANE Select Transcript
NM_138387.4 ENST00000269097.9 (Read more about MANE Select)
Function
Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. May form with the glucose-6-phosphate transporter (SLC37A4/G6PT) a ubiquitously expressed complex responsible for glucose production through glycogenolysis and gluconeogenesis. Probably required for normal neutrophil function. {ECO:0000269|PubMed:12370122, ECO:0000269|PubMed:12965222, ECO:0000269|PubMed:13129915}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-9152
ClinGen Curation ID:
CCID:007172
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
04/30/2020

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Monarch
HI Evidence Comments:
Biallelic loss of function mutations in the G6PC3 gene causes Severe Congenical Neutropenia 4 (SCN4) and Dursun Syndrome. Both of them are autosomal recessive conditions supported by clinical observation as well as functional analyses. Lin et al. (2015) (PMID 25492228) functionally characterized 16 of the 19 known missense mutations using recombinant adenoviral vector-mediated expression system. Vectors carrying entire coding region of G6Pase-B (wild type, and mutants generated by PCR-directed mutagenesis) transfected the COS-1 cells. Phosphohydrolase activities and Western blot were carried out for the measurement of functional implications of mutants. Among 16 missense mutants tested, 14 showed a phosphoryhydrolase activity close to the background and two missense mutants showed an activity level at approximately 48-48% of wild type. Boztug et al (2012) (PMID 22050868) reported a 31 patients with syndromic severe congenital neuropenia. Biallelic mutations were found in 61% of the patients. one invariant splicing site mutation, c.218+1G>A, was detected and 5 truncating mutation were detected. These findings support a loss-of-function mutation mechanism.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
no evidence for dosage pathogenicity

Genomic View

Select assembly: (NC_000017.10) (NC_000017.11)