SLC16A13

Chr 17AD

solute carrier family 16 member 13

Also known as: MCT13

Predicted to enable monocarboxylic acid transmembrane transporter activity. Predicted to be involved in monocarboxylic acid transport and transmembrane transport. Located in Golgi apparatus and cytosol. [provided by Alliance of Genome Resources, Jul 2025]

Primary Disease Associations & Inheritance

{Type 2 diabetes mellitus, susceptibility to}MIM #125853
AD
{Type 2 diabetes mellitus, susceptibility to}MIM #125853
AD
{Type 2 diabetes mellitus, susceptibility to}MIM #125853
AD
Insulin resistance, severe, digenicMIM #125853
AD
{Diabetes, type 2}MIM #125853
AD
{Diabetes mellitus, noninsulin-dependent}MIM #125853
AD
{Diabetes mellitus, noninsulin-dependent, susceptibility to}MIM #125853
AD
{Diabetes mellitus, noninsulin-dependent, association with}MIM #125853
AD
{Diabetes mellitus, noninsulin-dependent}MIM #125853
AD
{Type 2 diabetes mellitus, susceptibility to}MIM #125853
AD
{Diabetes mellitus, non-insulin-dependent, susceptibility to}MIM #125853
AD
{Type 2 diabetes mellitus}MIM #125853
AD
Diabetes mellitus, noninsulin-dependent, late onsetMIM #125853
AD
Insulin resistance, severe, digenicMIM #125853
AD
Diabetes mellitus, type 2MIM #125853
AD
{Diabetes mellitus, noninsulin-dependent, susceptibility to}MIM #125853
AD
{Diabetes mellitus, type 2, susceptibility to}MIM #125853
AD
Diabetes mellitus, noninsulin-dependentMIM #125853
AD
{Diabetes mellitus, noninsulin-dependent}MIM #125853
AD
{Diabetes mellitus, type 2, susceptibility to}MIM #125853
AD
{Diabetes mellitus, noninsulin-dependent, 2}MIM #125853
AD
{Diabetes mellitus, type II, susceptibility to}MIM #125853
AD
{Diabetes mellitus, noninsulin-dependent}MIM #125853
AD
{Diabetes mellitus, noninsulin-dependent}MIM #125853
AD
Type 2 diabetes mellitusMIM #125853
AD
{Diabetes mellitus, noninsulin-dependent, susceptibility to}MIM #125853
AD
{Hypertension, insulin resistance-related, susceptibility to}MIM #125853
AD
Diabetes mellitus, type IIMIM #125853
AD
{Diabetes mellitus, noninsulin-dependent}MIM #125853
AD
{Insulin resistance, susceptibility to}MIM #125853
AD
82
ClinVar variants
20
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical SummarySLC16A13
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
20 Pathogenic / Likely Pathogenic· 59 VUS of 82 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.71LOEUF
pLI 0.000
Z-score -0.46
OE 1.14 (0.761.71)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.18Z-score
OE missense 0.97 (0.871.08)
228 obs / 235.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.1.14 (0.761.71)
00.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.97 (0.871.08)
00.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.90
01.21.6
LoF obs/exp: 15 / 13.2Missense obs/exp: 228 / 235.8Syn Z: 0.86

ClinVar Variant Classifications

82 submitted variants in 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.

OMIM — Genotype-Phenotype Relationships

2 OMIM entries

{Type 2 diabetes mellitus, susceptibility to}

MIM #125853

Molecular basis of disorder known

Autosomal dominant

{Type 2 diabetes mellitus, susceptibility to}

MIM #125853

Molecular basis of disorder known

Autosomal dominant

{Type 2 diabetes mellitus, susceptibility to}

MIM #125853

Molecular basis of disorder known

Autosomal dominant

Insulin resistance, severe, digenic

MIM #125853

Molecular basis of disorder known

Autosomal dominant

{Diabetes, type 2}

MIM #125853

Molecular basis of disorder known

Autosomal dominant

{Diabetes mellitus, noninsulin-dependent}

MIM #125853

Molecular basis of disorder known

Autosomal dominant

{Diabetes mellitus, noninsulin-dependent, susceptibility to}

MIM #125853

Molecular basis of disorder known

Autosomal dominant

{Diabetes mellitus, noninsulin-dependent, association with}

MIM #125853

Molecular basis of disorder known

Autosomal dominant

{Diabetes mellitus, noninsulin-dependent}

MIM #125853

Disorder mapped to chromosomal region

Autosomal dominant

{Type 2 diabetes mellitus, susceptibility to}

MIM #125853

Molecular basis of disorder known

Autosomal dominant

{Diabetes mellitus, non-insulin-dependent, susceptibility to}

MIM #125853

Molecular basis of disorder known

Autosomal dominant

{Type 2 diabetes mellitus}

MIM #125853

Molecular basis of disorder known

Autosomal dominant

Diabetes mellitus, noninsulin-dependent, late onset

MIM #125853

Molecular basis of disorder known

Autosomal dominant

Insulin resistance, severe, digenic

MIM #125853

Molecular basis of disorder known

Autosomal dominant

Diabetes mellitus, type 2

MIM #125853

Molecular basis of disorder known

Autosomal dominant

{Diabetes mellitus, noninsulin-dependent, susceptibility to}

MIM #125853

Molecular basis of disorder known

Autosomal dominant

{Diabetes mellitus, type 2, susceptibility to}

MIM #125853

Molecular basis of disorder known

Autosomal dominant

Diabetes mellitus, noninsulin-dependent

MIM #125853

Molecular basis of disorder known

Autosomal dominant

{Diabetes mellitus, noninsulin-dependent}

MIM #125853

Molecular basis of disorder known

Autosomal dominant

{Diabetes mellitus, type 2, susceptibility to}

MIM #125853

Molecular basis of disorder known

Autosomal dominant

{Diabetes mellitus, noninsulin-dependent, 2}

MIM #125853

Molecular basis of disorder known

Autosomal dominant

{Diabetes mellitus, type II, susceptibility to}

MIM #125853

Molecular basis of disorder known

Autosomal dominant

{Diabetes mellitus, noninsulin-dependent}

MIM #125853

Molecular basis of disorder known

Autosomal dominant

{Diabetes mellitus, noninsulin-dependent}

MIM #125853

Molecular basis of disorder known

Autosomal dominant

Type 2 diabetes mellitus

MIM #125853

Molecular basis of disorder known

Autosomal dominant

{Diabetes mellitus, noninsulin-dependent, susceptibility to}

MIM #125853

Molecular basis of disorder known

Autosomal dominant

{Hypertension, insulin resistance-related, susceptibility to}

MIM #125853

Molecular basis of disorder known

Autosomal dominant

Diabetes mellitus, type II

MIM #125853

Molecular basis of disorder known

Autosomal dominant

{Diabetes mellitus, noninsulin-dependent}

MIM #125853

Molecular basis of disorder known

Autosomal dominant

{Insulin resistance, susceptibility to}

MIM #125853

Molecular basis of disorder known

Autosomal dominant
Clinical Literature
Landmark / reviewRecent case evidence

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →