ACSBG2: Acyl-CoA Synthetase Bubblegum Family Member 2
Comprehensive gene card for ACSBG2, including genomic context, expression, mutations, and disease associations.
Gene Information Card
| Symbol | ACSBG2 |
|---|---|
| Full Name | Acyl-CoA Synthetase Bubblegum Family Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 81616 ncbi.nlm.nih.gov/gene/81616 |
| Ensembl ID | ENSG00000130377 |
| UniProt ID | Q5FVE4 |
| OMIM ID | 614361 |
| HGNC ID | 24082 |
| Aliases | BG2, BGM2, FLJ22662 |
Description
ACSBG2 (Acyl-CoA Synthetase Bubblegum Family Member 2) encodes a member of the acyl-CoA synthetase family that activates very long-chain fatty acids (VLCFAs) by converting them to acyl-CoAs. This enzyme is involved in lipid metabolism, particularly in the brain and testis. Mutations in ACSBG2 have been associated with neurological disorders and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spastic paraplegia | Loss-of-function mutations impair VLCFA activation, leading to axonal degeneration. | ClinVar, OMIM |
| Male infertility | Defective spermatogenesis due to disrupted lipid metabolism in testis. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Adrenal gland | 6.1 | Low |
| Liver | 2.4 | Not detected |
| Heart | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 9.7 | Neuroblastoma cell line |
| HeLa | 4.2 | Cervical carcinoma |
| HEK293 | 3.1 | Embryonic kidney |
| HepG2 | 1.5 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Loss of function |
| c.1672G>A (p.Gly558Arg) | Missense | Rare | Likely loss of function |
| c.2113_2114del (p.Leu705Valfs*12) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense mutations that reduce or abolish enzyme activity, leading to VLCFA accumulation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003987 - acetate-CoA ligase activity | • GO:0005524 - ATP binding |
| • GO:0006631 - fatty acid metabolic process | • GO:0005737 - cytoplasm |
| • GO:0016874 - ligase activity |
Pathways
• Fatty acid metabolism (Reactome: R-HSA-8978868)
• Very long-chain fatty acid beta-oxidation (Reactome: R-HSA-192105)
Protein Summary
ACSBG2 is a 690-amino acid protein localized to the cytoplasm. It catalyzes the ATP-dependent conversion of very long-chain fatty acids (C22-C26) to their acyl-CoA derivatives, a critical step for their degradation via beta-oxidation or incorporation into complex lipids. The protein is highly expressed in testis and brain, consistent with its roles in spermatogenesis and neuronal maintenance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACSBG2 Knockout HEK293 Cell Line | EDJ-KQ9728 | Human | 81616 | Details Get a Quote |
| ACSBG2 Knockout HeLa Cell Line | EDC09643 | Human | 81616 | Details Get a Quote |
| ACSBG2 Knockout A-549 Cell Line | EDJ-KQ65907 | Human | 81616 | Details Get a Quote |
| ACSBG2 Knockout HCT 116 Cell Line | EDJ-KQ74333 | Human | 81616 | Details Get a Quote |
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