SLC2A10

Chr 20AR

solute carrier family 2 member 10

Also known as: ATORS, ATS, GLUT10

NCBI Gene: 81031ENSG00000197496UniProt: O95528OMIM: 606145

This gene encodes a facilitative glucose transporter required for cardiovascular system development. Mutations cause arterial tortuosity syndrome, an autosomal recessive disorder characterized by vascular abnormalities. The gene is highly constrained against loss-of-function variants (LOEUF 1.39), consistent with its essential role in vascular development.

GeneReviewsOMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 1.391 OMIM phenotype
Clinical Summary— SLC2A10
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Gene-Disease Validity (ClinGen)
arterial tortuosity syndrome · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
44 unique Pathogenic / Likely Pathogenic· 234 VUS of 500 total submissions
Explore recent and relevant literature in Research Assistant →
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GeneReview available — SLC2A10
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.39LOEUF
pLI 0.000
Z-score 0.44
OE 0.88 (0.57–1.39)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.75Z-score
OE missense 1.12 (1.03–1.23)
338 obs / 301.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.88 (0.57–1.39)
0≤0.351.4
Missense OE1.12 (1.03–1.23)
0≤0.61.4
Synonymous OE1.17
0≤1.21.6
LoF obs/exp: 13 / 14.8Missense obs/exp: 338 / 301.1Syn Z: -1.53
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveSLC2A10-related arterial tortuosity syndromeLOFAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.77top 25%
GOF
0.74top 25%
LOF
0.2678th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

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

ClinVar Variant Classifications

500 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic26
Likely Pathogenic18
VUS234
Likely Benign182
Benign13
Conflicting16
26
Pathogenic
18
Likely Pathogenic
234
VUS
182
Likely Benign
13
Benign
16
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
15
3
8
0
26
Likely Pathogenic
10
7
1
0
18
VUS
1
224
9
0
234
Likely Benign
0
13
37
132
182
Benign
0
0
13
0
13
Conflicting
—16
Total2624768132489

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

View in ClinVar →

Protein Context — Lollipop Plot

SLC2A10 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

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 5 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