ACOT13

Chr 6

acyl-CoA thioesterase 13

Also known as: HT012, PNAS-27, THEM2

NCBI Gene: 55856ENSG00000112304UniProt: Q9NPJ3

This gene encodes a member of the thioesterase superfamily. In humans, the protein co-localizes with microtubules and is essential for sustained cell proliferation. The orthologous mouse protein forms a homotetramer and is associated with mitochondria. The mouse protein functions as a medium- and long-chain acyl-CoA thioesterase. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2009]

33
ClinVar variants
6
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— ACOT13
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
6 Pathogenic / Likely Pathogenic· 27 VUS of 33 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
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.
1.94LOEUF
pLI 0.000
Z-score -1.08
OE 1.55 (0.81–1.94)
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.
0.10Z-score
OE missense 0.97 (0.81–1.17)
76 obs / 78.4 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.1.55 (0.81–1.94)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.97 (0.81–1.17)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.73
0≤1.21.6
LoF obs/exp: 7 / 4.5Missense obs/exp: 76 / 78.4Syn Z: 1.12

ClinVar Variant Classifications

33 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic5
Likely Pathogenic1
VUS27
5
Pathogenic
1
Likely Pathogenic
27
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
5
0
5
Likely Pathogenic
0
0
1
0
1
VUS
0
24
3
0
27
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total0249033

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

View in ClinVar →

Protein Context — Lollipop Plot

ACOT13 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Proteome-wide Mendelian randomization identifies therapeutic targets for ankylosing spondylitis.
Zhao W et al.·Front Immunol
2024
Identification and validation of a prognostic model based on immune-related genes in ovarian carcinoma.
Yu M et al.·PeerJ
2024Functional
Prognosis prediction and drug guidance of ovarian serous cystadenocarcinoma through mitochondria gene-based model.
Shen D et al.·Cancer Genet
2025Functional
Language impairment and dyslexia genes influence language skills in children with autism spectrum disorders.
Eicher JD et al.·Autism Res
2015Meta-analysis
Characterization of the DYX2 locus on chromosome 6p22 with reading disability, language impairment, and IQ.
Eicher JD et al.·Hum Genet
2014
Regulatory mechanism of fatty acid‑CoA metabolic enzymes under endoplasmic reticulum stress in lung cancer.
Liu KT et al.·Oncol Rep
2018Functional
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
A novel nanotherapeutic strategy: rescuing nucleus pulposus cells from fatty acid metabolic disorder and pyroptosis through ACOT13 by Chinese herbal formula nanoparticles.
Qi W et al.·J Nanobiotechnology
2026
Acyl-CoA thioesterase 13 (ACOT13) attenuates the progression of autosomal dominant polycystic kidney disease in vitro via triggering mitochondrial-related cell apoptosis.
Wang B et al.·Aging (Albany NY)
2024🔓 Open Access
Low expression of ACOT13 predicts poor prognosis and immunotherapy outcome in ovarian cancer.
Xie T et al.·Am J Transl Res
2024
Identification of ACOT13 and PTGER2 as novel candidate genes of autosomal dominant polycystic kidney disease through whole exome sequencing.
Du N et al.·Eur J Med Res
2021🔓 Open Access
gga-miRNA-18b-3p Inhibits Intramuscular Adipocytes Differentiation in Chicken by Targeting the ACOT13 Gene.
Sun G et al.·Cells
2019🔓 Open Access
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools