SLC5A4: Solute Carrier Family 5 Member 4
A low-affinity sodium-glucose cotransporter with potential roles in glucose homeostasis and cancer.
Gene Information Card
| Symbol | SLC5A4 |
|---|---|
| Full Name | Solute Carrier Family 5 Member 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q12.3 |
| NCBI Gene ID | 6527 ncbi.nlm.nih.gov/gene/6527 |
| Ensembl ID | ENSG00000100151 |
| UniProt ID | Q9NY91 |
| OMIM ID | 182391 |
| HGNC ID | 11038 |
| Aliases | SGLT3, SAAT1, DJ90G24.4 |
Description
SLC5A4 encodes a member of the sodium-glucose cotransporter (SGLT) family, specifically SGLT3. Unlike SGLT1 and SGLT2, SGLT3 is a low-affinity transporter that functions primarily as a glucose sensor rather than a major glucose transporter. It is expressed in the small intestine, skeletal muscle, and certain neurons, where it may modulate glucose-dependent signaling. Variants in SLC5A4 have been implicated in glucose homeostasis disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetes Mellitus, Non-Insulin-Dependent | Altered glucose sensing due to SLC5A4 variants may impair insulin secretion or peripheral glucose uptake. | PMID: 19096309 |
| Colorectal Cancer | SLC5A4 overexpression in tumor tissues may promote glucose uptake and cancer cell proliferation. | COSMIC: SLC5A4; PMID: 25910212 |
| Renal Cell Carcinoma | Dysregulation of SLC5A4 expression observed in clear cell renal cell carcinoma. | COSMIC: SLC5A4; PMID: 27197188 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small Intestine | 12.5 | Medium |
| Skeletal Muscle | 8.3 | Medium |
| Kidney | 4.1 | Low |
| Brain | 2.8 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (Colorectal) | 15.2 | High expression |
| HepG2 (Liver) | 1.1 | Low expression |
| HEK 293 (Embryonic Kidney) | 3.4 | Low expression |
| SH-SY5Y (Neuroblastoma) | 6.7 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100G>A (p.Gly34Arg) | Missense | <0.01% | Altered glucose transport activity; potential loss of function |
| c.452C>T (p.Thr151Met) | Missense | <0.01% | Unknown functional effect; reported in ClinVar |
| c.1234A>G (p.Ile412Val) | Missense | 0.02% | Likely benign; population frequency |
Mutation functional classification
Loss of Function (LOF)
p.Gly34Arg may reduce glucose transport capacity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not described for SLC5A4.
View complete mutation data：
Gene Ontology (GO)
| • glucose:sodium symporter activity (GO:0005412) | • transmembrane transport (GO:0055085) |
| • symporter activity (GO:0015293) | • plasma membrane (GO:0005886) |
| • sodium ion transport (GO:0006814) |
Pathways
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
• Glucose transport (KEGG: hsa04930)
Protein Summary
SLC5A4 encodes SGLT3, a 672-amino acid plasma membrane protein with 14 transmembrane domains. It functions as a low-affinity sodium-glucose symporter (Km ~2 mM for glucose) and is proposed to act as a glucose sensor in the intestine and muscle. The protein is not a major contributor to renal glucose reabsorption, distinguishing it from SGLT2. Post-translational modifications include N-glycosylation at Asn-248.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC5A4 Knockout HEK293 Cell Line | EDJ-KQ12142 | Human | 6527 | Details Get a Quote |
| SLC5A4 Knockout HeLa Cell Line | EDJ-KQ54488 | Human | 6527 | Details Get a Quote |
| SLC5A4 Knockout A-549 Cell Line | EDJ-KQ62974 | Human | 6527 | Details Get a Quote |
| SLC5A4 Knockout HCT 116 Cell Line | EDJ-KQ71445 | Human | 6527 | Details Get a Quote |
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