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5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ACSBG2
acyl-CoA synthetase bubblegum family member 2
Chromosome 19 · 19p13.3
NCBI Gene: 81616Ensembl: ENSG00000130377.14HGNC: HGNC:24174UniProt: A0A140VJD4
17PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmlong-chain fatty acid-CoA ligase activitycytosolfatty acyl-CoA hydrolase activitycongenital anomaly of cardiovascular systemMeniere diseaseovarian dysfunctionliver disease
✦AI Summary

ACSBG2 is an acyl-CoA synthetase that catalyzes the conversion of long-chain and very long-chain fatty acids to their active acyl-CoA forms, supporting both lipid synthesis and beta-oxidation 1. The enzyme demonstrates preferential activation of oleic acid (C18:1ω9) and linoleic acid (C18:2ω6) 1, with activity distributed across diverse saturated, monounsaturated, and polyunsaturated fatty acids. ACSBG2 expression is primarily confined to testis and brainstem, specifically in Sertoli cells and large motoneurons 1, indicating tissue-specific roles in reproductive and neuronal lipid metabolism. Disruption of ACSBG2 is implicated in male infertility pathophysiology. Multi-omics analysis identified ACSBG2 as a key gene dysregulated in non-obstructive azoospermia (NOA), with associated reductions in omega-3 polyunsaturated fatty acids, particularly docosahexaenoic acid 2. ACSBG2 is also identified among seven core genes involved in coronary atherosclerosis pathology 3 and appears dysregulated in early Alzheimer's disease cortex, where lipid metabolic dysfunction contributes to pathogenesis 4. These findings suggest ACSBG2 plays important roles in spermatogenesis, vascular homeostasis, and neuronal lipid metabolism, making it a potential biomarker and therapeutic target in reproductive, cardiovascular, and neurodegenerative disorders.

Sources cited
1
ACSBG2 is a testis- and brainstem-specific acyl-CoA synthetase with preferential activation of oleic and linoleic acids; localized to Sertoli cells and motoneurons
PMID: 16371355
2
ACSBG2 is dysregulated in non-obstructive azoospermia with associated omega-3 polyunsaturated fatty acid depletion affecting spermatogenesis
PMID: 39846195
3
ACSBG2 is among core genes dysregulated in early Alzheimer's disease cortex involved in lipid metabolism disorder
PMID: 38528586
4
ACSBG2 is identified as one of seven key fatty acid metabolism-related genes associated with coronary atherosclerosis
PMID: 39825440
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
congenital anomaly of cardiovascular systemOpen Targets
0.21Weak
Meniere diseaseOpen Targets
0.12Weak
ovarian dysfunctionOpen Targets
0.08Suggestive
liver diseaseOpen Targets
0.07Suggestive
idiopathic pulmonary fibrosisOpen Targets
0.04Suggestive
placenta praeviaOpen Targets
0.04Suggestive
osteoporosisOpen Targets
0.04Suggestive
postmenopausal osteoporosisOpen Targets
0.04Suggestive
melorheostosisOpen Targets
0.03Suggestive
pyknoachondrogenesisOpen Targets
0.03Suggestive
interstitial lung diseaseOpen Targets
0.02Suggestive
Cryptogenic Organizing PneumoniaOpen Targets
0.02Suggestive
sarcoidosisOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
COVID-19Open Targets
0.01Suggestive
asthmaOpen Targets
0.01Suggestive
obstructive sleep apneaOpen Targets
0.01Suggestive
head and neck squamous cell carcinomaOpen Targets
0.01Suggestive
systemic lupus erythematosusOpen Targets
0.01Suggestive
chronic lymphocytic leukemiaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LPLProtein interaction97%CPT1CProtein interaction91%ACSL1Protein interaction81%ACSL4Protein interaction81%CPT1AProtein interaction74%CPT1BProtein interaction74%
Tissue Expression6 tissues
Ovary
100%
Liver
57%
Lung
36%
Heart
21%
Brain
14%
Bone Marrow
11%
Gene Interaction Network
Click a node to explore
ACSBG2LPLCPT1CACSL1ACSL4CPT1ACPT1B
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q5FVE4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.99LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.80 [0.64–0.99]
RankingsWhere ACSBG2 stands among ~20K protein-coding genes
  • #14,910of 20,598
    Most Researched17
  • #9,507of 17,882
    Most Constrained (LOEUF)0.99
Genes detectedACSBG2
Sources retrieved5 papers
Response time—
📄 Sources
5
1
The second member of the human and murine bubblegum family is a testis- and brainstem-specific acyl-CoA synthetase.
PMID: 16371355
J Biol Chem · 2006
1.00
2
Multi-omics analysis and experimental verification reveal testicular fatty acid metabolism disorder in non-obstructive azoospermia.
PMID: 39846195
Zool Res · 2025
0.80
3
BetaScan2: Standardized Statistics to Detect Balancing Selection Utilizing Substitution Data.
PMID: 32011695
Genome Biol Evol · 2020
0.60
4
Cortical lipid metabolic pathway alteration of early Alzheimer's disease and candidate drugs screen.
PMID: 38528586
Eur J Med Res · 2024
0.40
5
Integrative bioinformatics and machine learning approach unveils potential biomarkers linking coronary atherosclerosis and fatty acid metabolism-associated gene.
PMID: 39825440
J Cardiothorac Surg · 2025
0.20