SLC16A13

Chr 17AD

solute carrier family 16 member 13

Also known as: MCT13

NCBI Gene: 201232ENSG00000174327UniProt: Q7RTY0OMIM: 125853

The protein functions as a proton-linked monocarboxylate transporter that catalyzes transport of monocarboxylates across cellular membranes and is located in the Golgi apparatus and cytosol. Mutations cause severe insulin resistance and type 2 diabetes mellitus with autosomal dominant inheritance. The gene shows very low constraint against loss-of-function variants (pLI near 0, LOEUF 1.7), suggesting tolerance to protein loss.

OMIMResearchSummary from RefSeq, OMIM, UniProt
MultiplemechanismADLOEUF 1.7130 OMIM phenotypes
Clinical Summary— SLC16A13
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
20 unique Pathogenic / Likely Pathogenic· 59 VUS of 86 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
1.71LOEUF
pLI 0.000
Z-score -0.46
OE 1.14 (0.76–1.71)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.18Z-score
OE missense 0.97 (0.87–1.08)
228 obs / 235.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE1.14 (0.76–1.71)
0≤0.351.4
Missense OE0.97 (0.87–1.08)
0≤0.61.4
Synonymous OE0.90
0≤1.21.6
LoF obs/exp: 15 / 13.2Missense obs/exp: 228 / 235.8Syn Z: 0.86
DN
0.6647th %ile
GOF
0.81top 10%
LOF
0.2580th %ile

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

GOFprediction above median
DNprediction 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

86 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic19
Likely Pathogenic1
VUS59
Likely Benign3
19
Pathogenic
1
Likely Pathogenic
59
VUS
3
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
0
18
0
19
Likely Pathogenic
0
0
1
0
1
VUS
0
52
7
0
59
Likely Benign
0
3
0
0
3
Benign
0
0
0
0
0
Total15526082

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

View in ClinVar →

Protein Context — Lollipop Plot

SLC16A13 · 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 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
SLC16A13 Downregulation Contributes to Apoptosis Induction in A549 Lung Cancer Cell Line.
Zeinolabedini A et al.·Asian Pac J Cancer Prev
2025Open Access
Propofol pretreatment inhibits ferroptosis and alleviates myocardial ischemia-reperfusion injury through the SLC16A13-AMPK-GPX4 pathway.
Sun F et al.·Biomed Pharmacother
2024
Decreased SLC16A13 Expression Level Can Increase Apoptosis in KATO2 Cell Line, A Promising Biomarker.
Zavarpour S et al.·Asian Pac J Cancer Prev
2024Open Access
Monocarboxylate Transporter 13 (MCT13/SLC16A13) Functions as a Novel Plasma Membrane Oligopeptide Transporter.
Higuchi K et al.·Nutrients
2023Open Access
Deletion of the diabetes candidate gene Slc16a13 in mice attenuates diet-induced ectopic lipid accumulation and insulin resistance.
Schumann T et al.·Commun Biol
2021Open Access
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