ACSBG2
protein-codingacyl-CoA synthetase bubblegum family member 2, the group of Acyl-CoA synthetase family
Gene summary
Enables arachidonate-CoA ligase activity and fatty acyl-CoA hydrolase activity. Acts upstream of or within fatty acid metabolic process. Located in cytosol and mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~57.8 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to ACSBG2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_030924.5. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 3 | 1 | 5 | ||
| missense | 102 | 5 | 1 | 108 | ||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 2 | 2 | ||||
| Total | 0 | 0 | 106 | 8 | 2 | 116 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_112186.3 | 13 | MANE Select | |
| Ensembl | ENSP00000466336.2 | 13 | MANE Select | |
| RefSeq | NP_001276106.1 | 13 | Standard | |
| RefSeq | NP_001276107.1 | 13 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Adipocytokine signaling pathway - Homo sapiens (human)
- Fatty acid degradation - Homo sapiens (human)
- Fatty acid biosynthesis - Homo sapiens (human)
- PPAR signaling pathway - Homo sapiens (human)
- PPAR signaling pathway
Biological Process
- long-chain fatty acid metabolic process
- fatty acid metabolic process
- multicellular organism development
- spermatogenesis
- cell differentiation
Molecular Function
- long-chain fatty acid-CoA ligase activity
- ATP binding
- very long-chain fatty acid-CoA ligase activity
- acyl-CoA hydrolase activity
- decanoate-CoA ligase activity
Cellular Component
- cytoplasm
- mitochondrion
- cytosol
- membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000586696
- Coding exons
- 13
- Length
- 57855
- Individuals with no LoFs
- 125324
- Homozygous LoFs
- 2
- Heterozygous LoFs
- 422
- Defined
- 125748
- p
- 0.00169
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.220 | 351 | 363 | 0.968 | 0.0000189 | 4405 |
| Missense (PolyPhen) | 129 | 139.08 | 0.92754 | 1730 | ||
| Synonymous | -1.02 | 155 | 140 | 1.11 | 0.00000825 | 1239 |
| Loss of Function | 1.94 | 21 | 33.0 | 0.636 | 0.00000170 | 383 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.015 | 0.015 | notable |
| Latino/Admixed American | 0.00087 | 0.00084 | rare |
| Ashkenazi Jewish | 0.000099 | 0.000099 | rare |
| East Asian | 0.00077 | 0.00076 | rare |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0.00049 | 0.00048 | rare |
| South Asian | 0.0027 | 0.0026 | notable |
| Other | 0.0013 | 0.0013 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Mediates activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Able to activate long-chain fatty acids. Also able to activate very long-chain fatty acids; however, the relevance of such activity is unclear in vivo. Has increased ability to activate oleic and linoleic acid. May play a role in spermatogenesis.;
Recessive Scores
- pRec
- 0.0908
Intolerance Scores
- LoFtool
- 0.950
- RVIS EVS
- 1.72
- RVIS percentile EVS
- 96.48
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.414
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |