SLC2A13: Solute Carrier Family 2 Member 13 (HMT)
Glucose and fructose transporter with potential roles in metabolic and neurological disorders
Gene Information Card
| Symbol | SLC2A13 |
|---|---|
| Full Name | Solute Carrier Family 2 Member 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q12 |
| NCBI Gene ID | 114134 ncbi.nlm.nih.gov/gene/114134 |
| Ensembl ID | ENSG00000134690 |
| UniProt ID | Q96QE2 |
| OMIM ID | 611036 |
| HGNC ID | 15957 |
| Aliases | HMT, GLUT13, MGC138234 |
Description
SLC2A13 (Solute Carrier Family 2 Member 13) encodes a proton-coupled myo-inositol and glucose transporter, also known as HMT (H(+)-myo-inositol symporter) or GLUT13. It belongs to the facilitative glucose transporter family but functions as a symporter driven by a proton gradient. The protein is highly expressed in brain, particularly in hippocampus and cerebellum, and is involved in myo-inositol homeostasis, which is critical for osmoregulation and cell signaling. SLC2A13 has been implicated in metabolic disorders and neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetes Mellitus Type 2 | Altered glucose/fructose transport may contribute to insulin resistance and metabolic dysregulation | PMID: 19056867 |
| Alzheimer's Disease | Dysregulation of myo-inositol transport linked to amyloid-beta pathology and cognitive decline | PMID: 25619704 |
| Autism Spectrum Disorder | Variants in SLC2A13 associated with altered myo-inositol levels in brain | PMID: 27329760 |
| Epilepsy | Impaired myo-inositol transport may affect neuronal excitability | PMID: 28472656 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Brain (hippocampus) | 18.2 | High |
| Brain (cerebellum) | 15.8 | High |
| Testis | 6.3 | Low |
| Kidney | 4.1 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 14.7 | High expression |
| U-87 MG (glioblastoma) | 11.2 | Medium expression |
| HEK293 (embryonic kidney) | 3.5 | Low expression |
| HepG2 (hepatocellular carcinoma) | 1.8 | Not detected |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003C>T (p.Arg335Trp) | Missense | <0.01% | Reduced transport activity in vitro |
| c.1456G>A (p.Gly486Ser) | Missense | <0.01% | Altered substrate specificity |
| c.1789_1791del (p.Phe597del) | In-frame deletion | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
c.1789_1791del (p.Phe597del) leads to complete loss of myo-inositol transport activity.
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)
| • GO:0005355 (glucose transmembrane transporter activity) | • GO:0015145 (myo-inositol transmembrane transporter activity) |
| • GO:0015293 (symporter activity) | • GO:0055085 (transmembrane transport) |
| • GO:0016021 (integral component of membrane) |
Pathways
• REACT: R-HSA-425407 (SLC-mediated transmembrane transport)
• REACT: R-HSA-425393 (Transport of glucose and other sugars
• bile salts and organic acids
• metal ions and amine compounds)
• REACT: R-HSA-189200 (Cellular hexose transport)
Protein Summary
The SLC2A13 protein (HMT/GLUT13) is a 648-amino acid transmembrane transporter with 12 predicted helical domains. It functions as a proton-coupled symporter for myo-inositol and, to a lesser extent, glucose and fructose. The protein is predominantly expressed in brain, where it regulates myo-inositol levels, influencing osmoregulation, phosphoinositide signaling, and neuronal function. Structural studies indicate a conserved sugar-binding pocket and proton-binding site essential for transport activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC2A13 Knockout HEK293 Cell Line | EDC07996 | Human | 114134 | Details Get a Quote |
| SLC2A13 Knockout A-549 Cell Line | EDJ-KQ25580 | Human | 114134 | Details Get a Quote |
| SLC2A13 Knockout HCT 116 Cell Line | EDJ-KQ25581 | Human | 114134 | Details Get a Quote |
| SLC2A13 Knockout HeLa Cell Line | EDJ-KQ25582 | Human | 114134 | Details Get a Quote |
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