ELOVL2
ELOVL Fatty Acid Elongase 2
Gene Information Card
| Symbol | ELOVL2 |
|---|---|
| Full Name | ELOVL Fatty Acid Elongase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p24.2 |
| NCBI Gene ID | 54898 ncbi.nlm.nih.gov/gene/54898 |
| Ensembl ID | ENSG00000197977 |
| UniProt ID | Q9NXB0 |
| OMIM ID | 611814 |
| HGNC ID | 31593 |
| Aliases | SSC2, FLJ20421 |
Description
ELOVL2 encodes a member of the elongation of very long chain fatty acids (ELOVL) protein family. This enzyme catalyzes the first and rate-limiting step in the elongation of polyunsaturated fatty acids (PUFAs) and very long chain fatty acids (VLCFAs), specifically elongating C20-22 PUFAs to C24-26 VLCFAs. ELOVL2 is highly expressed in testis, liver, and brain, and plays a critical role in sphingolipid metabolism, membrane composition, and spermatogenesis. Dysregulation of ELOVL2 is associated with metabolic disorders, neurological diseases, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Metabolic syndrome | Altered fatty acid composition due to ELOVL2 variants may contribute to insulin resistance and dyslipidemia. | PMID: 25646336 |
| Age-related macular degeneration | Reduced ELOVL2 expression in retinal pigment epithelium leads to accumulation of shorter-chain PUFAs, affecting photoreceptor function. | PMID: 31073044 |
| Spermatogenic failure | ELOVL2 deficiency impairs very long chain fatty acid synthesis required for sperm membrane integrity and motility. | PMID: 28204531 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.2 | High |
| Liver | 22.5 | Medium |
| Brain | 15.8 | Medium |
| Adipose tissue | 10.3 | Medium |
| Retina | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 25.1 | Hepatocellular carcinoma cell line |
| SH-SY5Y | 12.4 | Neuroblastoma cell line |
| MCF-7 | 6.7 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.689G>A (p.Arg230His) | Missense | 0.001% (gnomAD) | Reduced enzymatic activity; associated with altered plasma lipid profiles |
| c.1165C>T (p.Arg389*) | Nonsense | <0.001% | Loss of function; predicted to cause premature truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay result in loss of elongase activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • fatty acid elongase activity (GO:0009922) | • fatty acid biosynthetic process (GO:0006633) |
| • integral component of membrane (GO:0016021) | • fatty acid elongation (GO:0034625) |
Pathways
• Fatty acid elongation (Reactome: R-HSA-2046106)
• Sphingolipid metabolism (KEGG: hsa00600)
Protein Summary
ELOVL2 is a 296-amino acid transmembrane protein localized to the endoplasmic reticulum. It contains a conserved histidine-rich motif essential for elongase activity. The protein is involved in the elongation of C20-22 PUFAs to C24-26 VLCFAs, which are critical components of sphingolipids and membrane phospholipids. ELOVL2 expression is regulated by transcription factors such as SREBP-1 and PPARα, and its activity is modulated by post-translational modifications.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ELOVL2 Knockout HEK293 Cell Line | EDJ-KQ11923 | Human | 54898 | Details Get a Quote |
| ELOVL2 Knockout A-549 Cell Line | EDJ-KQ40422 | Human | 54898 | Details Get a Quote |
| ELOVL2 Knockout HeLa Cell Line | EDJ-KQ56497 | Human | 54898 | Details Get a Quote |
| ELOVL2 Knockout HCT 116 Cell Line | EDJ-KQ73433 | Human | 54898 | Details Get a Quote |
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