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…

LOEUF 0.68

Clinical Summary— SLC2A4RG

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.26) despite low pLI — interpret in context.

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ClinVar Variants

75 VUS of 97 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.68LOEUF

pLI 0.219

Z-score 2.31

OE 0.26 (0.12–0.68)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.19Z-score

OE missense 0.96 (0.85–1.09)

181 obs / 188.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.26 (0.12–0.68)

0≤0.351.4

Missense OE?0.96 (0.85–1.09)

0≤0.61.4

Synonymous OE?1.08

0≤1.21.6

LoF obs/exp: 3 / 11.4Missense obs/exp: 181 / 188.3Syn Z: -0.56

ClinVar Variant Classifications

97 submitted variants in ClinVar

ClinVar

Classification Summary

VUS75

Likely Benign8

Benign2

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	75	0	75
Likely Benign	7	1	8
Benign	1	1	2
Total	83	2	85

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

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41 pathogenic / likely-pathogenic (of 56) ClinVar copy-number / structural variants overlap SLC2A4RG — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →