SLC2A4RG

Chr 20

SLC2A4 regulator

Also known as: GEF, GLUT4EF, HDBP-1, HDBP1, Si-1-2, Si-1-2-19

NCBI Gene: 56731 ENSG00000125520 UniProt: Q9NR83 OMIM: 609493

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.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a nuclear transcription factor involved in the activation of the solute carrier family 2 member 4 gene. The encoded protein interacts with another transcription factor, myocyte enhancer factor 2, to activate transcription of this gene. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.68

LOEUF

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Mechanism