SLC2A14

Chr 12

solute carrier family 2 member 14

Also known as: GLUT14, SLC2A3P3

NCBI Gene: 144195ENSG00000173262UniProt: Q8TDB8

This protein is a hexose transporter that mediates glucose and dehydroascorbate transport across cell membranes. Mutations cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities, typically presenting in early infancy. The gene shows moderate constraint against loss-of-function variants, suggesting some intolerance to complete protein loss.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
3
Pubs (1 yr)
44
P/LP submissions
0%
P/LP missense
0.60
LOEUF
Multiple*
Mechanism· predicted
Clinical Summary— SLC2A14
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.31) despite low pLI — interpret in context.
📋
ClinVar Variants
43 unique Pathogenic / Likely Pathogenic· 73 VUS of 146 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.60LOEUF
pLI 0.041
Z-score 2.85
OE 0.31 (0.17–0.60)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.32Z-score
OE missense 0.79 (0.71–0.88)
237 obs / 301.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.31 (0.17–0.60)
0≤0.351.4
Missense OE0.79 (0.71–0.88)
0≤0.61.4
Synonymous OE1.04
0≤1.21.6
LoF obs/exp: 6 / 19.6Missense obs/exp: 237 / 301.4Syn Z: -0.32
DN
0.85top 5%
GOF
0.74top 25%
LOF
0.1598th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

146 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic41
Likely Pathogenic2
VUS73
Likely Benign10
Benign6
41
Pathogenic
2
Likely Pathogenic
73
VUS
10
Likely Benign
6
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
41
0
41
Likely Pathogenic
0
0
2
0
2
VUS
0
65
8
0
73
Likely Benign
0
5
4
1
10
Benign
0
0
6
0
6
Total070611132

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

View in ClinVar →

Protein Context — Lollipop Plot

SLC2A14 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 4 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients