SLC5A9: Solute Carrier Family 5 Member 9
Sodium/glucose cotransporter 4 (SGLT4) – gene overview, expression, and disease relevance
Gene Information Card
| Symbol | SLC5A9 |
|---|---|
| Full Name | Solute Carrier Family 5 Member 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p33 |
| NCBI Gene ID | 200010 ncbi.nlm.nih.gov/gene/200010 |
| Ensembl ID | ENSG00000117569 |
| UniProt ID | Q2M3G0 |
| OMIM ID | 618438 |
| HGNC ID | 13838 |
| Aliases | SGLT4, SL5A9 |
Description
SLC5A9 encodes the sodium/glucose cotransporter 4 (SGLT4), a member of the solute carrier family 5. SGLT4 mediates the electrogenic transport of glucose and galactose across the plasma membrane, driven by an inward sodium gradient. It is primarily expressed in the small intestine and kidney, where it contributes to dietary sugar absorption and renal glucose reabsorption. The gene is located on chromosome 1p33 and is distinct from other SGLT family members in its substrate specificity and tissue distribution.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glucose-galactose malabsorption (suspected) | Impaired SGLT4-mediated intestinal glucose uptake may contribute to carbohydrate intolerance; direct evidence limited. | OMIM #618438; case reports |
| Renal glucosuria (possible modifier) | Reduced SGLT4 activity in kidney proximal tubule could lower glucose reabsorption threshold. | ClinVar; functional studies in vitro |
| Type 2 diabetes (association) | Variants in SLC5A9 may alter glucose homeostasis and insulin sensitivity. | GWAS catalog; population studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 12.5 | Medium |
| Kidney | 9.8 | Medium |
| Colon | 4.2 | Low |
| Liver | 1.1 | Not detected |
| Pancreas | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (intestinal) | 15.3 | High expression; model for intestinal glucose transport |
| HEK293 (embryonic kidney) | 7.6 | Moderate expression; used for heterologous expression studies |
| HepG2 (liver) | 0.5 | Negligible; consistent with low liver expression |
| MCF7 (breast) | 0.3 | Negligible |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100G>A (p.Gly34Arg) | Missense | <0.01% | Reduced glucose transport activity in vitro |
| c.452C>T (p.Thr151Met) | Missense | <0.01% | Altered substrate affinity; ClinVar uncertain significance |
| c.789delC (p.Phe263Leufs*12) | Frameshift | <0.01% | Loss of function; predicted nonsense-mediated decay |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants (e.g., c.789delC) lead to truncated protein or mRNA decay, abolishing transport activity.
Gain of Function (GOF)
No gain-of-function variants reported in SLC5A9.
Dominant Negative (DN)
No dominant-negative mechanisms described for SLC5A9.
View complete mutation data:
Gene Ontology (GO)
| • glucose:sodium symporter activity (GO:0005412) | • symporter activity (GO:0015293) |
| • transmembrane transport (GO:0055085) | • plasma membrane (GO:0005886) |
| • apical plasma membrane (GO:0016324) | • sodium ion transport (GO:0006814) |
| • glucose transmembrane transport (GO:0015758) |
Pathways
• REACT:21273 – SLC-mediated transmembrane transport
• REACT:15518 – Transport of glucose and other sugars
• bile salts and organic acids
• metal ions and amine compounds
• KEGG:04964 – Proximal tubule bicarbonate reclamation (indirect via sodium gradient)
Protein Summary
SGLT4 (UniProt Q2M3G0) is a 672-amino acid integral membrane protein with 14 transmembrane helices. It functions as a sodium/glucose cotransporter with a 2:1 Na+:glucose stoichiometry. The protein is localized to the apical membrane of enterocytes and renal proximal tubule cells. It exhibits lower affinity for glucose compared to SGLT1 but can also transport galactose and mannose. Post-translational modifications include N-glycosylation at Asn-248, which is essential for proper trafficking to the plasma membrane.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC5A9 Knockout HEK293 Cell Line | EDJ-KQ4338 | Human | 200010 | Details Get a Quote |
| SLC5A9 Knockout HeLa Cell Line | EDJ-KQ58996 | Human | 200010 | Details Get a Quote |
| SLC5A9 Knockout A-549 Cell Line | EDJ-KQ67481 | Human | 200010 | Details Get a Quote |
| SLC5A9 Knockout HCT 116 Cell Line | EDJ-KQ75876 | Human | 200010 | Details Get a Quote |
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