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]

ResearchGenerating clinical summary…
2
Active trials
79
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.37
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
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?
0.07Z-score
OE missense 0.98 (0.86–1.12)
162 obs / 164.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.89 (0.60–1.37)
0≤0.351.4
Missense OE?0.98 (0.86–1.12)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 15 / 16.8Missense obs/exp: 162 / 164.7Syn Z: 0.41

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients