SLC2A4RG: SLC2A4 Regulator Gene
Transcriptional regulator of the glucose transporter SLC2A4 (GLUT4) gene
Gene Information Card
| Symbol | SLC2A4RG |
|---|---|
| Full Name | SLC2A4 regulator |
| Gene Type | protein-coding |
| Chromosomal Location | 20q13.33 |
| NCBI Gene ID | 56731 ncbi.nlm.nih.gov/gene/56731 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9NSP4 |
| OMIM ID | 609354 |
| HGNC ID | 15870 |
| Aliases | MEF2D, MEF2Dbeta, MEF2Ddelta |
Description
SLC2A4RG encodes a transcription factor that binds to the promoter of the SLC2A4 (GLUT4) gene and regulates its expression. It is involved in glucose homeostasis and insulin signaling. The protein contains a MADS-box domain and is a member of the myocyte enhancer factor 2 (MEF2) family, playing a role in muscle and adipose tissue glucose uptake.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Type 2 Diabetes Mellitus | Reduced SLC2A4RG expression leads to decreased GLUT4 transcription, impairing insulin-stimulated glucose uptake in muscle and fat. | NCBI Gene, OMIM |
| Insulin Resistance | Dysregulation of SLC2A4RG contributes to impaired GLUT4 expression and peripheral insulin resistance. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal Muscle | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Adipose Tissue | 8.9 | Medium |
| Brain | 3.1 | Low |
| Liver | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 4.3 | Low expression |
| HepG2 | 2.1 | Low expression |
| C2C12 (myoblast) | 15.8 | High expression |
| 3T3-L1 (adipocyte) | 11.2 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown functional effect |
| c.245C>T | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.245C>T) likely cause loss of function by truncating the protein.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • GO:0000978 (GO:0000978) | • GO:0000981 (GO:0000981) |
| • GO:0003700 (GO:0003700) | • GO:0005634 (GO:0005634) |
| • GO:0006357 (GO:0006357) | • GO:0045944 (GO:0045944) |
Pathways
• Insulin signaling pathway (Reactome: R-HSA-422085)
• Glucose transport (Reactome: R-HSA-189200)
Protein Summary
SLC2A4RG is a 473-amino acid transcription factor with a MADS-box domain at the N-terminus. It forms homodimers and heterodimers with other MEF2 family members, binding to MEF2 response elements in the SLC2A4 promoter. The protein is predominantly expressed in skeletal muscle, heart, and adipose tissue, where it regulates GLUT4 expression and glucose uptake.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC2A4RG Knockout HEK293 Cell Line | EDJ-KQ16547 | Human | 56731 | Details Get a Quote |
| SLC2A4RG Knockout HCT 116 Cell Line | EDJ-KQ48168 | Human | 56731 | Details Get a Quote |
| SLC2A4RG Knockout HeLa Cell Line | EDJ-KQ48169 | Human | 56731 | Details Get a Quote |
| SLC2A4RG Knockout A-549 Cell Line | EDJ-KQ46850 | Human | 56731 | Details Get a Quote |
