SLC27A2 (Solute Carrier Family 27 Member 2)
Fatty acid transporter and very long-chain acyl-CoA synthetase involved in lipid metabolism and peroxisomal disorders
Gene Information Card
| Symbol | SLC27A2 |
|---|---|
| Full Name | Solute carrier family 27 member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q21.2 |
| NCBI Gene ID | 11001 ncbi.nlm.nih.gov/gene/11001 |
| Ensembl ID | ENSG00000140284 |
| UniProt ID | O14975 |
| OMIM ID | 603247 |
| HGNC ID | 10997 |
| Aliases | FATP2, VLACS, ACSVL1, HsT17226 |
Description
SLC27A2 encodes a member of the fatty acid transport protein (FATP) family, functioning as a very long-chain acyl-CoA synthetase (VLACS). The protein is localized to the endoplasmic reticulum and peroxisomal membrane, where it activates very long-chain fatty acids (VLCFAs) by converting them to acyl-CoAs, essential for β-oxidation in peroxisomes and lipid synthesis. Mutations in SLC27A2 are associated with peroxisomal disorders and altered lipid metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Peroxisomal acyl-CoA oxidase deficiency (pseudo-neonatal adrenoleukodystrophy) | Defective VLCFA activation due to SLC27A2 dysfunction leads to accumulation of VLCFAs, impairing peroxisomal β-oxidation. | OMIM #603247; PMID: 14583195 |
| Ichthyosis, lamellar, 5 | Impaired fatty acid transport and metabolism in skin keratinocytes disrupts epidermal barrier formation. | OMIM #603247; PMID: 22995991 |
| Hepatocellular carcinoma | Altered lipid metabolism and fatty acid activation may promote tumor growth and survival. | COSMIC; PMID: 27147027 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.8 | High |
| Kidney | 8.5 | Medium |
| Small intestine | 6.2 | Medium |
| Adrenal gland | 4.1 | Low |
| Brain | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 15.3 | High expression |
| HEK293 (embryonic kidney) | 7.1 | Moderate expression |
| Caco-2 (colon) | 5.8 | Moderate expression |
| SH-SY5Y (neuroblastoma) | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.164G>A (p.Arg55Gln) | Missense | <0.01% | Reduced acyl-CoA synthetase activity; associated with peroxisomal disorder |
| c.1123C>T (p.Arg375Trp) | Missense | <0.01% | Impaired VLCFA activation; reported in ichthyosis |
| c.1444_1445del (p.Leu482Valfs*12) | Frameshift | <0.01% | Loss of function; truncation of C-terminal domain |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations reduce or abolish acyl-CoA synthetase activity, leading to VLCFA accumulation and peroxisomal dysfunction.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005324 – long-chain fatty acid transporter activity | • GO:0004467 – long-chain fatty acid-CoA ligase activity |
| • GO:0031957 – very long-chain fatty acid-CoA ligase activity | • GO:0015908 – fatty acid transport |
| • GO:0006635 – fatty acid beta-oxidation | • GO:0005777 – peroxisome |
| • GO:0005783 – endoplasmic reticulum |
Pathways
• Peroxisomal lipid metabolism (Reactome: R-HSA-8978868)
• Fatty acid metabolism (KEGG: hsa00071)
• PPAR signaling pathway (KEGG: hsa03320)
Protein Summary
SLC27A2 encodes a 690-amino acid protein (UniProt O14975) with a molecular weight of ~75 kDa. It contains an AMP-binding domain and a FATP signature motif. The protein is anchored to membranes via a transmembrane domain and functions as a homodimer. It catalyzes the ATP-dependent conversion of VLCFAs (C22-C26) to acyl-CoAs, a critical step for peroxisomal β-oxidation. Defects lead to accumulation of VLCFAs, associated with peroxisomal disorders and skin barrier abnormalities.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC27A2 Knockout HEK293 Cell Line | EDJ-KQ6607 | Human | 11001 | Details Get a Quote |
| SLC27A2 Knockout A-549 Cell Line | EDJ-KQ32219 | Human | 11001 | Details Get a Quote |
| SLC27A2 Knockout HCT 116 Cell Line | EDJ-KQ32220 | Human | 11001 | Details Get a Quote |
| SLC27A2 Knockout HeLa Cell Line | EDJ-KQ32221 | Human | 11001 | Details Get a Quote |
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