SLC2A12: Solute Carrier Family 2 Member 12
Glucose Transporter GLUT12 - Gene Overview and Biomedical Significance
Gene Information Card
| Symbol | SLC2A12 |
|---|---|
| Full Name | Solute Carrier Family 2 Member 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q23.2 |
| NCBI Gene ID | 154091 ncbi.nlm.nih.gov/gene/154091 |
| Ensembl ID | ENSG00000146411 |
| UniProt ID | Q8TD20 |
| OMIM ID | 610372 |
| HGNC ID | 18057 |
| Aliases | GLUT12, GLUT-12 |
Description
SLC2A12 (Solute Carrier Family 2 Member 12) encodes GLUT12, a facilitative glucose transporter belonging to the SLC2 family. GLUT12 is involved in insulin-sensitive glucose uptake and is expressed in various tissues including heart, skeletal muscle, and adipose tissue. It may play a role in glucose homeostasis and has been implicated in cancer cell metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of GLUT12 may enhance glucose uptake in tumor cells, supporting proliferation. | PMID: 19029980; COSMIC |
| Prostate cancer | Elevated GLUT12 expression correlates with aggressive disease and poor prognosis. | PMID: 22952442; COSMIC |
| Type 2 diabetes | Altered GLUT12 expression in insulin-sensitive tissues may contribute to insulin resistance. | PMID: 15629114; OMIM 610372 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 10.2 | Medium |
| Skeletal muscle | 8.5 | Medium |
| Adipose tissue | 6.1 | Low |
| Kidney | 4.3 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 12.5 | High expression |
| LNCaP (prostate cancer) | 9.8 | Moderate expression |
| HepG2 (liver cancer) | 2.1 | Low expression |
| HEK293 (embryonic kidney) | 1.5 | Not detected |
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; predicted benign |
| c.1234G>A (p.Gly412Ser) | Missense | <0.01% | Unknown; predicted possibly damaging |
| c.1462_1463insA (p.Thr488Asnfs*12) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift variant p.Thr488Asnfs*12 likely results in a truncated non-functional protein.
Gain of Function (GOF)
No gain-of-function mutations reported in SLC2A12.
Dominant Negative (DN)
No dominant-negative mutations described for SLC2A12.
View complete mutation data:
Gene Ontology (GO)
| • GO:0005355 - glucose transmembrane transporter activity | • GO:0015758 - glucose transport |
| • GO:0005886 - plasma membrane | • GO:0016021 - integral component of membrane |
| • GO:0055085 - transmembrane transport |
Pathways
• Glucose transport (Reactome: R-HSA-189200)
• Insulin regulation of glucose uptake (Reactome: R-HSA-189222)
Protein Summary
GLUT12 is a 617-amino acid facilitative glucose transporter with 12 transmembrane domains. It shares ~40% sequence identity with GLUT4 and is expressed in insulin-sensitive tissues. GLUT12 localizes to the plasma membrane and intracellular vesicles, and its translocation to the cell surface is stimulated by insulin. It may contribute to glucose uptake in muscle and fat, and its overexpression in certain cancers suggests a role in metabolic reprogramming.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC2A12 Knockout HEK293 Cell Line | EDC08224 | Human | 154091 | Details Get a Quote |
| SLC2A12 Knockout HeLa Cell Line | EDJ-KQ39879 | Human | 154091 | Details Get a Quote |
| SLC2A12 Knockout A-549 Cell Line | EDJ-KQ67220 | Human | 154091 | Details Get a Quote |
| SLC2A12 Knockout HCT 116 Cell Line | EDJ-KQ75620 | Human | 154091 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records