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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ELOVL2
ELOVL fatty acid elongase 2
Chromosome 6 · 6p24.2
NCBI Gene: 54898Ensembl: ENSG00000197977.5HGNC: HGNC:14416UniProt: Q9NXB9
59PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingfatty acid elongase activityfatty acid elongation, polyunsaturated fatty acidvery long-chain fatty acid biosynthetic processcoronary artery calcificationsystemic lupus erythematosusdyshidrosisbreast ductal adenocarcinoma
✦AI Summary

ELOVL2 encodes an endoplasmic reticulum-bound fatty acid elongase that catalyzes the rate-limiting first step of long-chain fatty acid elongation, adding two carbons per cycle to synthesize very long-chain polyunsaturated fatty acids (VLC-PUFAs), particularly docosahexaenoic acid (DHA) precursors 1. The enzyme shows substrate specificity toward polyunsaturated acyl-CoA, with highest activity toward arachidonic acid 2. ELOVL2 function is critical for maintaining retinal lipid homeostasis; mice with reduced ELOVL2 activity exhibit impaired contrast sensitivity and delayed dark adaptation, while VLC-PUFA supplementation reverses age-related vision decline 1. ELOVL2 methylation status serves as a robust epigenetic aging marker, correlating strongly with chr6 age 34. Functionally, ELOVL2 deficiency increases endoplasmic reticulum stress and mitochondrial dysfunction, accelerating aging phenotypes and age-related macular degeneration in retinal epithelial cells 3. In pancreatic beta cells, ELOVL2-derived DHA protects against glucolipotoxicity-induced apoptosis through CPT1-dependent fatty acid oxidation 2. Clinically, ELOVL2 variants associate with autism spectrum disorder susceptibility and intermediate age-related macular degeneration in human populations 51. These findings position ELOVL2 as a key metabolic-epigenetic node linking lipid homeostasis to age-related disease prevention.

Sources cited
1
ELOVL2 epigenetic alterations correlate most highly with age prediction; impaired ELOVL2 function increases ER stress, mitochondrial dysfunction, and age-related macular degeneration phenotypes
PMID: 35610223
2
ELOVL2 produces VLC-PUFA precursors including 24:5n-3; ELOVL2 deficiency reduces retinal contrast sensitivity and dark adaptation; VLC-PUFA supplementation reverses age-related vision decline and reduces AMD pathology
PMID: 40991728
3
ELOVL2 polymorphisms associate with autism spectrum disorder susceptibility in Chinese children, with specific variants affecting ASD risk and diagnostic scores
PMID: 30180836
4
ELOVL2-derived DHA protects beta cells from glucolipotoxicity-induced apoptosis through CPT1-dependent palmitate oxidation and reduced ceramide accumulation
PMID: 29754287
5
ELOVL2 methylation shows very strong correlation with chronological age and enables accurate single-locus epigenetic age prediction models
PMID: 36768576
6
ELOVL2 antisense RNA (ELOVL2-AS1) suppresses tamoxifen resistance in breast cancer by sponging miR-1233-3p
PMID: 37908128
7
ELOVL2 methylation increases with age but shows no independent association with cardiovascular risk factors or future renal/cardiovascular events in CKD patients
PMID: 37493252
8
ELOVL2 hypermethylation increases during aging and placebo treatment, serving as a marker of epigenetic aging acceleration
PMID: 40064804
Disease Associationsⓘ20
coronary artery calcificationOpen Targets
0.32Weak
systemic lupus erythematosusOpen Targets
0.28Weak
dyshidrosisOpen Targets
0.23Weak
breast ductal adenocarcinomaOpen Targets
0.11Weak
azoospermiaOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Suggestive
menopauseOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
spermatogenic failure 20Open Targets
0.08Suggestive
spermatogenic failure 72Open Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
spermatogenic failure 18Open Targets
0.08Suggestive
spermatogenic failure 27Open Targets
0.08Suggestive
spermatogenic failure 46Open Targets
0.08Suggestive
posterior cortical atrophyOpen Targets
0.08Suggestive
Male infertility due to large-headed multiflagellar polyploid spermatozoaOpen Targets
0.08Suggestive
spermatogenic failure 5Open Targets
0.08Suggestive
spermatogenic failure 42Open Targets
0.08Suggestive
spermatogenic failure 86Open Targets
0.08Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ELOVL5Shared pathway92%AWAT1Protein interaction87%ELOVL1Shared pathway85%DGAT2Protein interaction84%ELOVL3Shared pathway83%ELOVL7Shared pathway82%
Tissue Expression6 tissues
Brain
100%
Liver
60%
Heart
36%
Bone Marrow
3%
Ovary
1%
Lung
1%
Gene Interaction Network
Click a node to explore
ELOVL2ELOVL5AWAT1ELOVL1DGAT2ELOVL3ELOVL7
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NXB9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.34LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.02 [0.79–1.34]
RankingsWhere ELOVL2 stands among ~20K protein-coding genes
  • #7,767of 20,598
    Most Researched59
  • #13,997of 17,882
    Most Constrained (LOEUF)1.34
Genes detectedELOVL2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Lipid metabolism dysfunction induced by age-dependent DNA methylation accelerates aging.
PMID: 35610223
Signal Transduct Target Ther · 2022
1.00
2
Retinal polyunsaturated fatty acid supplementation reverses aging-related vision decline in mice.
PMID: 40991728
Sci Transl Med · 2025
0.90
3
FADS1-FADS2 and ELOVL2 gene polymorphisms in susceptibility to autism spectrum disorders in Chinese children.
PMID: 30180836
BMC Psychiatry · 2018
0.80
4
ELOVL2-methylation and renal and cardiovascular event in patients with chronic kidney disease.
PMID: 37493252
Eur J Clin Invest · 2023
0.70
5
Unveiling the geroprotective potential of Monarda didyma L.: insights from in vitro studies and a randomized clinical trial on slowing biological aging and improving quality of life.
PMID: 40064804
Geroscience · 2025
0.60