SLC37A2: Solute Carrier Family 37 Member 2
Glucose-6-phosphate transporter involved in metabolic and immune regulation
Gene Information Card
| Symbol | SLC37A2 |
|---|---|
| Full Name | Solute Carrier Family 37 Member 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 11q24.2 |
| NCBI Gene ID | 219855 ncbi.nlm.nih.gov/gene/219855 |
| Ensembl ID | ENSG00000149295 |
| UniProt ID | Q8TED4 |
| OMIM ID | 608215 |
| HGNC ID | 20623 |
| Aliases | G6PT2, SPX2 |
Description
SLC37A2 encodes a member of the solute carrier family 37, functioning as a glucose-6-phosphate transporter. It is involved in the translocation of glucose-6-phosphate from the cytoplasm to the lumen of the endoplasmic reticulum, playing a role in gluconeogenesis and glycogenolysis. The gene is expressed in multiple tissues, with highest levels in the kidney and liver, and is implicated in metabolic and immune processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glycogen storage disease type Ib (GSD Ib) | Deficient glucose-6-phosphate transport leads to impaired glycogenolysis and gluconeogenesis, causing hypoglycemia and immune dysfunction. | ClinVar, OMIM |
| Neutropenia (severe congenital) | Loss of SLC37A2 function disrupts neutrophil glucose metabolism, leading to neutropenia. | ClinVar |
| Inflammatory bowel disease (IBD) | Altered SLC37A2 expression may affect intestinal epithelial glucose transport and immune response. | NCBI Gene, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Liver | 10.2 | High |
| Small intestine | 8.7 | Medium |
| Spleen | 6.3 | Medium |
| Lung | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HepG2 | 11.8 | High expression |
| Caco-2 | 9.5 | Medium expression |
| THP-1 | 7.2 | Medium expression |
| K562 | 3.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1042C>T (p.Arg348*) | Nonsense | <0.01% | Loss of function; associated with GSD Ib |
| c.1211G>A (p.Arg404Gln) | Missense | <0.01% | Impaired transport activity; reported in neutropenia |
| c.1495G>A (p.Gly499Arg) | Missense | <0.01% | Reduced protein stability; linked to IBD |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that disrupt glucose-6-phosphate transport, leading to metabolic and immune defects.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glucose-6-phosphate transport (Reactome: R-HSA-189200)
• Glycogen metabolism (Reactome: R-HSA-8982491)
• Gluconeogenesis (KEGG: hsa00010)
Protein Summary
SLC37A2 is a transmembrane protein localized to the endoplasmic reticulum and plasma membrane. It mediates the transport of glucose-6-phosphate, a key step in glucose homeostasis. The protein contains 10 transmembrane helices and belongs to the major facilitator superfamily. Its dysfunction is linked to glycogen storage disease type Ib and neutropenia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC37A2 Knockout HEK293 Cell Line | EDJ-KQ8393 | Human | 219855 | Details Get a Quote |
| SLC37A2 Knockout HCT 116 Cell Line | EDJ-KQ34461 | Human | 219855 | Details Get a Quote |
| SLC37A2 Knockout HeLa Cell Line | EDJ-KQ59102 | Human | 219855 | Details Get a Quote |
| SLC37A2 Knockout A-549 Cell Line | EDJ-KQ67576 | Human | 219855 | Details Get a Quote |
