SLC2A4RG
Chr 20SLC2A4 regulator
Also known as: GEF, GLUT4EF, HDBP-1, HDBP1, Si-1-2, Si-1-2-19
SLC2A4RG encodes a nuclear transcription factor that activates transcription of the SLC2A4 gene (encoding GLUT4 glucose transporter) and other targets by binding to specific DNA sequences and interacting with myocyte enhancer factor 2. Mutations cause autosomal recessive intellectual disability with seizures, hypotonia, and distinctive facial features, typically presenting in early childhood. The gene shows moderate constraint against loss-of-function variants, suggesting some tolerance to haploinsufficiency.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
153 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 33 | 0 | 33 |
Likely Pathogenic | 0 | 0 | 8 | 0 | 8 |
VUS | 0 | 75 | 14 | 0 | 89 |
Likely Benign | 0 | 7 | 0 | 1 | 8 |
Benign | 0 | 1 | 0 | 1 | 2 |
Conflicting | — | 1 | |||
| Total | 0 | 83 | 55 | 2 | 141 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SLC2A4RG · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools