SLC37A4 Chromosome 11
Solute carrier family 37 member 4
Upload your DNA to see your personal genotypes for variants in SLC37A4.
What This Gene Does
This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009]
Gene Info
Gene Group
Solute carrier family 37
Locus Type
gene with protein product
Location
11q23.3
Ensembl
ENSG00000137700
Associated Conditions (14)
Glucose-6-phosphate transport defect
Phosphate transport defect
Glycogen storage disease
type I
Congenital disorder of glycosylation
type IIw
Inborn genetic diseases
Glycogen storage disease type 1 due to SLC37A4 mutation
SLC37A4-related disorder
6 conditions
Malignant tumor of urinary bladder
Malignant tumor of esophagus
Gastric cancer
See cases
Key Variants
RS1272300904
Conflicting classifications of pathogenicity
Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect, Phosphate transport defect
Health Risk
RS1326123837
Conflicting classifications of pathogenicity
Glucose-6-phosphate transport defect, Phosphate transport defect, Glycogen storage disease
Health Risk
RS1376674013
Conflicting classifications of pathogenicity
Glycogen storage disease, type I, Glucose-6-phosphate transport defect
Health Risk
RS1432360280
Conflicting classifications of pathogenicity
Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
Health Risk
RS145369754
Conflicting classifications of pathogenicity
Glycogen storage disease, type I, Glycogen storage disease
Health Risk
RS148971334
Conflicting classifications of pathogenicity
Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
Health Risk
RS149974794
Conflicting classifications of pathogenicity
Glucose-6-phosphate transport defect, Congenital disorder of glycosylation, type IIw
Health Risk
RS1555191880
Conflicting classifications of pathogenicity
Glycogen storage disease, type I, Glucose-6-phosphate transport defect
Health Risk
RS1592107594
Conflicting classifications of pathogenicity
Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
Health Risk
RS186476316
Conflicting classifications of pathogenicity
Glucose-6-phosphate transport defect, Phosphate transport defect, Congenital disorder of glycosylation
Health Risk
RS193302877
Conflicting classifications of pathogenicity
Glucose-6-phosphate transport defect, Phosphate transport defect, Congenital disorder of glycosylation
Health Risk
RS193302889
Conflicting classifications of pathogenicity
Glycogen storage disease, type I, 6 conditions
Health Risk
All Variants (181)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1272300904 | Health Risk | Conflicting classifications of pathogenicity | Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect, Phosphate transport defect |
| RS1326123837 | Health Risk | Conflicting classifications of pathogenicity | Glucose-6-phosphate transport defect, Phosphate transport defect, Glycogen storage disease |
| RS1376674013 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease, type I, Glucose-6-phosphate transport defect |
| RS1432360280 | Health Risk | Conflicting classifications of pathogenicity | Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS145369754 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease, type I, Glycogen storage disease |
| RS148971334 | Health Risk | Conflicting classifications of pathogenicity | Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS149974794 | Health Risk | Conflicting classifications of pathogenicity | Glucose-6-phosphate transport defect, Congenital disorder of glycosylation, type IIw |
| RS1555191880 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease, type I, Glucose-6-phosphate transport defect |
| RS1592107594 | Health Risk | Conflicting classifications of pathogenicity | Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS186476316 | Health Risk | Conflicting classifications of pathogenicity | Glucose-6-phosphate transport defect, Phosphate transport defect, Congenital disorder of glycosylation |
| RS193302877 | Health Risk | Conflicting classifications of pathogenicity | Glucose-6-phosphate transport defect, Phosphate transport defect, Congenital disorder of glycosylation |
| RS193302889 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease, type I, 6 conditions |
| RS199764888 | Health Risk | Conflicting classifications of pathogenicity | Glucose-6-phosphate transport defect, Inborn genetic diseases, SLC37A4-related disorder |
| RS200147602 | Health Risk | Conflicting classifications of pathogenicity | Glucose-6-phosphate transport defect, Inborn genetic diseases, SLC37A4-related disorder |
| RS200703321 | Health Risk | Conflicting classifications of pathogenicity | SLC37A4-related disorder, Glucose-6-phosphate transport defect, Inborn genetic diseases |
| RS201036248 | Health Risk | Conflicting classifications of pathogenicity | Glucose-6-phosphate transport defect, Glycogen storage disease, type I |
| RS201967384 | Health Risk | Conflicting classifications of pathogenicity | Glucose-6-phosphate transport defect, Inborn genetic diseases, SLC37A4-related disorder |
| RS202209699 | Health Risk | Conflicting classifications of pathogenicity | Glucose-6-phosphate transport defect, SLC37A4-related disorder, Glucose-6-phosphate transport defect |
| RS2497032088 | Health Risk | Conflicting classifications of pathogenicity | Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS369399624 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease, type I, Glucose-6-phosphate transport defect |
| RS534659292 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease, type I, SLC37A4-related disorder |
| RS547488738 | Health Risk | Conflicting classifications of pathogenicity | Glucose-6-phosphate transport defect, Inborn genetic diseases, SLC37A4-related disorder |
| RS561701030 | Health Risk | Conflicting classifications of pathogenicity | Glucose-6-phosphate transport defect, SLC37A4-related disorder, Inborn genetic diseases |
| RS776272750 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease, type I, Glucose-6-phosphate transport defect |
| RS781887799 | Health Risk | Conflicting classifications of pathogenicity | Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS782292086 | Health Risk | Conflicting classifications of pathogenicity | Glucose-6-phosphate transport defect, Congenital disorder of glycosylation, type IIw |
| RS782308530 | Health Risk | Conflicting classifications of pathogenicity | Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS786204477 | Health Risk | Conflicting classifications of pathogenicity | Glucose-6-phosphate transport defect, Phosphate transport defect, SLC37A4-related disorder |
| RS80356492 | Health Risk | Conflicting classifications of pathogenicity | Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS863224211 | Health Risk | Conflicting classifications of pathogenicity | Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS1064795433 | Health Risk | Likely pathogenic | — |
| RS1182102272 | Health Risk | Likely pathogenic | Glucose-6-phosphate transport defect, Phosphate transport defect, Congenital disorder of glycosylation |
| RS121908977 | Health Risk | Likely pathogenic | Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS1227989495 | Health Risk | Likely pathogenic | Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS1356550790 | Health Risk | Likely pathogenic | Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS1449998297 | Health Risk | Likely pathogenic | Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS1451674068 | Health Risk | Likely pathogenic | Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS1555190559 | Health Risk | Likely pathogenic | Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS1555190745 | Health Risk | Likely pathogenic | Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS1555190956 | Health Risk | Likely pathogenic | Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS1555190969 | Health Risk | Likely pathogenic | Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS1555190992 | Health Risk | Likely pathogenic | Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS1555191105 | Health Risk | Likely pathogenic | Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS1555191211 | Health Risk | Likely pathogenic | — |
| RS1555191406 | Health Risk | Likely pathogenic | Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS1555191573 | Health Risk | Likely pathogenic | Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS1555191580 | Health Risk | Likely pathogenic | Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS1555191595 | Health Risk | Likely pathogenic | — |
| RS1592109970 | Health Risk | Likely pathogenic | Glucose-6-phosphate transport defect, Phosphate transport defect, Glucose-6-phosphate transport defect |
| RS1592111559 | Health Risk | Likely pathogenic | Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |