ELOVL2

Chr 6

ELOVL fatty acid elongase 2

Also known as: SSC2

NCBI Gene: 54898ENSG00000197977UniProt: Q9NXB9

Enables fatty acid elongase activity. Involved in fatty acid elongation, polyunsaturated fatty acid and very long-chain fatty acid biosynthetic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]

72
ClinVar variants
26
Pathogenic / LP
0.00
pLI score
1
Active trials
Clinical Summary— ELOVL2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
26 Pathogenic / Likely Pathogenic· 46 VUS of 72 total submissions
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.37LOEUF
pLI 0.000
Z-score 0.41
OE 0.89 (0.60–1.37)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.07Z-score
OE missense 0.98 (0.86–1.12)
162 obs / 164.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.89 (0.60–1.37)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.98 (0.86–1.12)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.93
0≤1.21.6
LoF obs/exp: 15 / 16.8Missense obs/exp: 162 / 164.7Syn Z: 0.41

ClinVar Variant Classifications

72 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic23
Likely Pathogenic3
VUS46
23
Pathogenic
3
Likely Pathogenic
46
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
23
0
23
Likely Pathogenic
0
0
3
0
3
VUS
0
43
3
0
46
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total04329072

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ELOVL2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Physical Activity and Epigenetic Aging in Breast Cancer Treatment.
Moulton C et al.·Int J Mol Sci
2024
[Desaturases of fatty acids (FADS) and their physiological and clinical implication].
Žák A et al.·Cas Lek Cesk
2016Review
MYCN and PRC1 cooperatively repress docosahexaenoic acid synthesis in neuroblastoma via ELOVL2.
Ding Y et al.·J Exp Clin Cancer Res
2019
Genetic variants in ELOVL2 and HSD17B12 predict melanoma-specific survival.
Dai W et al.·Int J Cancer
2019
A Sex-Specific Minimal CpG-Based Model for Biological Aging Using ELOVL2 Methylation Analysis.
Ibáñez-Cabellos JS et al.·Int J Mol Sci
2025Functional
SPDYC serves as a prognostic biomarker related to lipid metabolism and the immune microenvironment in breast cancer.
Chen X et al.·Immunol Res
2024
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.
Campisi M et al.·Geroscience
2025
EpiAge: a next-generation sequencing-based ELOVL2 epigenetic clock for biological age assessment in saliva and blood across health and disease.
Cheishvili D et al.·Aging (Albany NY)
2025
Expression of decitabine-targeted oncogenes in meningiomas in vivo.
Canisius J et al.·Neurosurg Rev
2022
Mitochondrial lipidome's fatty acid profile and peroxidation index are programmed tissue-specific traits.
Mota-Martorell N et al.·Redox Biol
2025
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
HealthyOmega 3Metabolism, Lipids

Observing Metabolism of EPA With Consideration of Genetics And Sex

RECRUITING
NCT06975241Phase PHASE4University of TorontoStarted 2025-07-29
EPA 2.4g/day

External Resources

Links to major genomics databases and tools