ACSM2B

Chr 16

acyl-CoA synthetase medium chain family member 2B

Also known as: ACSM2, HXMA, HYST1046

NCBI Gene: 348158ENSG00000066813UniProt: Q68CK6

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

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.42
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

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 OE?1.08 (0.83–1.42)
0≤0.351.4
Missense OE?1.31 (1.21–1.42)
0≤0.61.4
Synonymous OE?1.31
0≤1.21.6
LoF obs/exp: 37 / 34.3Missense obs/exp: 417 / 317.7Syn Z: -2.61

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

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

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients