SLC2A14: Solute Carrier Family 2 Member 14
Glucose Transporter GLUT14: Genetic Variants, Expression, and Disease Associations
Gene Information Card
| Symbol | SLC2A14 |
|---|---|
| Full Name | Solute Carrier Family 2 Member 14 |
| Gene Type | protein-coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 144195 ncbi.nlm.nih.gov/gene/144195 |
| Ensembl ID | ENSG00000168542 |
| UniProt ID | Q8TDB8 |
| OMIM ID | 611210 |
| HGNC ID | 13440 |
| Aliases | GLUT14, GLUT-14, SLC2A14P1 |
Description
SLC2A14 (Solute Carrier Family 2 Member 14) encodes GLUT14, a facilitative glucose transporter belonging to the GLUT family. It is highly expressed in testis and also detected in other tissues. The protein mediates glucose uptake and may play a role in spermatogenesis and metabolic regulation. Alternative splicing generates multiple isoforms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetes Mellitus, Type 2 | Altered glucose transport may contribute to insulin resistance; SLC2A14 variants associated with T2D risk in some populations. | PMID: 20628086 |
| Obesity | Expression changes in adipose tissue linked to glucose homeostasis and adiposity. | PMID: 23300278 |
| Male Infertility | High testis expression suggests role in sperm energy metabolism; variants may affect fertility. | PMID: 21910245 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 32.5 | High |
| Adipose Tissue | 4.2 | Low |
| Brain | 2.1 | Low |
| Liver | 1.8 | Low |
| Kidney | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 3.8 | Moderate expression |
| HeLa | 2.1 | Low expression |
| HepG2 | 1.5 | Low expression |
| K562 | 0.9 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs11558471 (c.105G>A) | SNP | 0.15 (1000 Genomes) | Missense (p.Val35Ile); associated with T2D risk |
| rs5400 (c.45T>C) | SNP | 0.20 (1000 Genomes) | Synonymous; possible regulatory effect |
| c.124C>T | SNP | <0.01 (ExAC) | Nonsense (p.Arg42*); predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Nonsense variant p.Arg42* leads to premature truncation and likely loss of glucose transport activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • glucose transmembrane transporter activity (GO:0005355) | • transmembrane transport (GO:0055085) |
| • glucose transport (GO:0015758) | • integral component of membrane (GO:0016021) |
| • plasma membrane (GO:0005886) |
Pathways
• Glucose transport (Reactome: R-HSA-189200)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
Protein Summary
GLUT14 is a 497-amino acid facilitative glucose transporter with 12 transmembrane domains. It shares high sequence similarity with GLUT3 (SLC2A3) and is primarily expressed in testis. The protein mediates bidirectional glucose transport across the plasma membrane and is essential for energy supply in spermatogenesis. Isoforms differ in N-terminal length and tissue distribution.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC2A14 Knockout HEK293 Cell Line | EDJ-KQ9694 | Human | 144195 | Details Get a Quote |
| SLC2A14 Knockout HeLa Cell Line | EDJ-KQ58504 | Human | 144195 | Details Get a Quote |
| SLC2A14 Knockout A-549 Cell Line | EDJ-KQ66992 | Human | 144195 | Details Get a Quote |
| SLC2A14 Knockout HCT 116 Cell Line | EDJ-KQ75392 | Human | 144195 | Details Get a Quote |
| SLC2A14 Knockout Huh-7 Cell Line | EDC09843 | Human | 144195 | Details Get a Quote |
