SLC37A4
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SLC37A4 (HGNC:4061) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
solute carrier family 37 member 4
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
G6PT1, G6PT2, G6PT3
Alias symbols
GSD1b, GSD1c, GSD1d, G6PT, SPX4
%HI
31.13(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.25(Read more about gnomAD LOEUF score)
Cytoband
11q23.3
Genomic Coordinates
GRCh37/hg19: chr11:118894822-118901587 NCBI Ensembl UCSC
GRCh38/hg38: chr11:119024112-119030877 NCBI Ensembl UCSC
MANE Select Transcript
NM_001164277.2 ENST00000642844.3 (Read more about MANE Select)
Function
Inorganic phosphate and glucose-6-phosphate antiporter of the endoplasmic reticulum. Transports cytoplasmic glucose-6-phosphate into the lumen of the endoplasmic reticulum and translocates inorganic phosphate into the opposite direction (PubMed:33964207). Forms with glucose-6-phosphatase the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it plays a central role in homeostatic regulation of blood glucose levels. {ECO:0000269|PubMed:10026167, ECO:0000... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-34356
ClinGen Curation ID:
CCID:007880
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:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Biallelic variants in the SLC37A4 gene have been associated with the diseases Glycogen storage disease Ib and Glycogen storage disease Ic in OMIM. These diseases have significant phenotypic overlap so a more general MONDO term, Glycogen Storage Disease I MONDO:0002413, has been selected for this curation.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)