ACSF2

Chr 17

acyl-CoA synthetase family member 2

Also known as: ACSMW, AVYV493

NCBI Gene: 80221UniProt: Q96CM8

Enables medium-chain fatty acid-CoA ligase activity. Predicted to be involved in fatty acid metabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
0
ClinVar variants
0
Pathogenic / LP
2.0
Missense Z
0.65
LOEUF
12
Pubs (2 yr)
Clinical Summary— ACSF2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

ensembl: TimeoutError: The operation was aborted due to timeout

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.
0.65LOEUF
pLI 0.000
Z-score 3.12
OE 0.42 (0.28–0.65)
Tolerant

Typical tolerance to LoF variation

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.
1.98Z-score
OE missense 0.70 (0.63–0.78)
249 obs / 353.9 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.0.42 (0.28–0.65)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.70 (0.63–0.78)
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.0.90
0≤1.21.6
LoF obs/exp: 14 / 33.4Missense obs/exp: 249 / 353.9Syn Z: 0.99

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ACSF2 · 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
Identification of differentially expressed genes associated with ferroptosis in ulcerative colitis.
Zhang F et al.·PLoS One
2025
Biomarker Identification and Risk Prediction Model Development for Differentiated Thyroid Carcinoma Lung Metastasis Based on Primary Lesion Proteomics.
Peng X et al.·Clin Cancer Res
2024Functional
Identification and preliminary validation of biomarkers associated with mitochondrial and programmed cell death in pre-eclampsia.
Lin R et al.·Front Immunol
2025
Machine Learning Identify Ferroptosis-Related Genes as Potential Diagnostic Biomarkers for Gastric Intestinal Metaplasia.
Li T et al.·Technol Cancer Res Treat
2024
Lactylation in diabetes mellitus and its complications: mechanisms of action and therapeutic potential - recent advances.
Zhou M et al.·Front Endocrinol (Lausanne)
2025Review
The diagnostic value and associated molecular mechanism study for fibroblast-related mitochondrial genes on keloid.
Wei T et al.·Skin Res Technol
2024Functional
Identification of the prognostic value of ferroptosis-related gene signature in breast cancer patients.
Wang D et al.·BMC Cancer
2021Cohort
RWCFusion: identifying phenotype-specific cancer driver gene fusions based on fusion pair random walk scoring method.
Zhao J et al.·Oncotarget
2016
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
ACSF2-mediated ferroptosis is involved in ulcerative colitis.
Luo L et al.·Life Sci
2023
Genetic analysis of potential biomarkers and therapeutic targets in ferroptosis from psoriasis
Wu MN et al.·Front Immunol
2023
Targeted lipidomics analysis of lysine 179 acetylation of ACSF2 in rat hepatic stellate cells.
Wang M et al.·Prostaglandins Other Lipid Mediat
2022
Inhibition of ACSF2 protects against renal ischemia/reperfusion injury via mediating mitophagy in proximal tubular cells.
Shi H et al.·Free Radic Biol Med
2023
Identification of EGFR as an essential regulator in chondrocytes ferroptosis of osteoarthritis using bioinformatics, in vivo, and in vitro study
Sun H et al.·Heliyon
2023
Transcriptomic exploration of key genes related to mitochondria and ferroptosis in inflammatory bowel disease and experimental validation
Chen H et al.·Sci Rep
2025
Top 6 full-text resultsSearch PubTator3 ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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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