ACSM2B

Chr 16

acyl-CoA synthetase medium chain family member 2B

Also known as: ACSM2, HXMA, HYST1046

NCBI Gene: 348158ENSG00000066813UniProt: Q68CK6OMIM: 614359

ACSM2B encodes a mitochondrial enzyme that activates medium-chain fatty acids (C4-C10) and certain xenobiotics like benzoate by conjugating them with CoA, representing the first step in fatty acid metabolism. This gene is not well-constrained against loss-of-function variants and no definitive disease associations have been established in the provided data. Additional clinical and genetic studies would be needed to determine if ACSM2B variants cause human disease.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 1.42
Clinical Summary— ACSM2B
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
14 unique Pathogenic / Likely Pathogenic· 64 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
1.42LOEUF
pLI 0.000
Z-score -0.43
OE 1.08 (0.83–1.42)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-1.98Z-score
OE missense 1.31 (1.21–1.42)
417 obs / 317.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.08 (0.83–1.42)
0≤0.351.4
Missense OE1.31 (1.21–1.42)
0≤0.61.4
Synonymous OE1.31
0≤1.21.6
LoF obs/exp: 37 / 34.3Missense obs/exp: 417 / 317.7Syn Z: -2.61
DN
0.7035th %ile
GOF
0.6151th %ile
LOF
0.3649th %ile

The highest-scoring mechanism for this gene is dominant-negative.

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

Pathogenic14
VUS64
Likely Benign4
Benign3
14
Pathogenic
64
VUS
4
Likely Benign
3
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
14
0
14
Likely Pathogenic
0
0
0
0
0
VUS
0
57
7
0
64
Likely Benign
0
3
1
0
4
Benign
0
1
0
2
3
Total06122285

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

View in ClinVar →

Protein Context — Lollipop Plot

ACSM2B · 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
Lipid metabolizing enzyme ACSM2B is a potential negative regulator of liver cancer progression.
Xu Z et al.·Asian J Surg
2024
Genes Involved in Lipid, Carbohydrate, and Protein Metabolism as Candidates Affecting Beef Flavor.
Rando A et al.·Animals (Basel)
2026
Identification of an isoform catalyzing the CoA conjugation of nonsteroidal anti-inflammatory drugs and the evaluation of the expression levels of acyl-CoA synthetases in the human liver.
Hashizume H et al.·Biochem Pharmacol
2021
Genome-wide association study of metabolites in patients with coronary artery disease identified novel metabolite quantitative trait loci
Wang Z et al.·Clin Transl Med
2021Cohort
Aspirin and hepatocellular carcinoma risk in metabolic dysfunction-associated steatotic liver disease: nationwide cohort study with genetic risk analysis
Ahn J et al.·Clin Mol Hepatol
2025Cohort
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 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