SLC5A11 Gene - Sodium/Myo-Inositol Cotransporter
SLC5A11 encodes a sodium-coupled myo-inositol transporter involved in osmoregulation and cellular stress response.
Gene Information Card
| Symbol | SLC5A11 |
|---|---|
| Full Name | Solute carrier family 5 member 11 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p12.1 |
| NCBI Gene ID | 6522 ncbi.nlm.nih.gov/gene/6522 |
| Ensembl ID | ENSG00000140992 |
| UniProt ID | Q8WWX8 |
| OMIM ID | 608216 |
| HGNC ID | 11038 |
| Aliases | SMIT2, FLJ20160 |
Description
SLC5A11 (solute carrier family 5 member 11) encodes a sodium/myo-inositol cotransporter (SMIT2) that mediates the electrogenic uptake of myo-inositol and sodium ions. It plays a key role in cellular osmoregulation, particularly in the kidney and brain, and is involved in the response to hypertonic stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal osmoregulatory disorders | Impaired myo-inositol transport in kidney medulla | Inferred from functional studies (UniProt) |
| Diabetic nephropathy | Altered SMIT2 expression in hyperglycemic conditions | Reported in literature (PMID: 19033658) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.3 | Medium |
| Brain | 8.7 | Medium |
| Liver | 2.1 | Low |
| Heart | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression in transfected cells |
| HepG2 | 3.4 | Moderate endogenous expression |
| SH-SY5Y | 6.8 | Neuronal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Unknown functional effect (ClinVar) |
| c.1576G>A (p.Val526Ile) | Missense | <0.01% | Likely benign (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
Not reported in ClinVar or COSMIC for SLC5A11.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • myo-inositol:sodium symporter activity (GO:0005369) | • L-amino acid transmembrane transporter activity (GO:0015179) |
| • membrane (GO:0016020) | • integral component of plasma membrane (GO:0005887) |
| • sodium ion transport (GO:0006814) | • myo-inositol transport (GO:0015758) |
| • response to osmotic stress (GO:0006970) |
Pathways
• Myo-inositol transport (Reactome: R-HSA-429083)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
Protein Summary
SLC5A11 encodes the sodium/myo-inositol cotransporter 2 (SMIT2), a 648-amino acid membrane protein with 12 transmembrane domains. It functions as a symporter, coupling the inward transport of myo-inositol with sodium ions, driven by the electrochemical gradient. SMIT2 is essential for maintaining intracellular myo-inositol levels, particularly under hypertonic conditions, and is expressed in kidney, brain, and other tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC5A11 Knockout HEK293 Cell Line | EDJ-KQ7526 | Human | 115584 | Details Get a Quote |
| SLC5A11 Knockout A-549 Cell Line | EDJ-KQ32805 | Human | 115584 | Details Get a Quote |
| SLC5A11 Knockout HeLa Cell Line | EDJ-KQ57957 | Human | 115584 | Details Get a Quote |
| SLC5A11 Knockout HCT 116 Cell Line | EDJ-KQ74869 | Human | 115584 | Details Get a Quote |
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