ELOVL2
protein-codingELOVL fatty acid elongase 2
Gene summary
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]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~63.5 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to ELOVL2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_017770.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 43 | 43 | ||||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 44 | 0 | 0 | 44 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_060240.3 | 8 | MANE Select | |
| Ensembl | ENSP00000346693.3 | 8 | MANE Select | |
| Ensembl | ENSP00000524851.1 | 5 | Standard | |
| Ensembl | ENSP00000524851.1 | 5 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Biosynthesis of unsaturated fatty acids - Homo sapiens (human)
- Fatty acid elongation - Homo sapiens (human)
- Ectoderm Differentiation
- Metabolism of lipids
- Fatty acyl-CoA biosynthesis
Biological Process
- unsaturated fatty acid biosynthetic process
- fatty acid elongation, saturated fatty acid
- sphingolipid biosynthetic process
- fatty acid elongation, monounsaturated fatty acid
- fatty acid elongation, polyunsaturated fatty acid
Molecular Function
- protein binding
- fatty acid elongase activity
- 3-oxo-arachidoyl-CoA synthase activity
- 3-oxo-cerotoyl-CoA synthase activity
- 3-oxo-lignoceronyl-CoA synthase activity
Cellular Component
- endoplasmic reticulum
- endoplasmic reticulum membrane
- integral component of endoplasmic reticulum membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000354666
- Coding exons
- 8
- Length
- 63556
- Individuals with no LoFs
- 125678
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 69
- Defined
- 125747
- p
- 0.000274
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.0749 | 162 | 165 | 0.984 | 0.00000888 | 1955 |
| Missense (PolyPhen) | 73 | 77.37 | 0.94352 | 910 | ||
| Synonymous | 0.406 | 56 | 60.0 | 0.933 | 0.00000373 | 529 |
| Loss of Function | 0.408 | 15 | 16.8 | 0.893 | 8.62e-7 | 190 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00025 | 0.00025 | rare |
| Latino/Admixed American | 0.00026 | 0.00026 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00093 | 0.00092 | rare |
| Finnish | 0.00018 | 0.00018 | rare |
| European (Non-Finnish) | 0.00011 | 0.00011 | rare |
| South Asian | 0.00067 | 0.00059 | rare |
| Other | 0.00067 | 0.00065 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C20:4(n- 6) acyl-CoA. Condensing enzyme that catalyzes the synthesis of polyunsaturated very long chain fatty acid (C20- and C22-PUFA). May participate in the production of polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. {ECO:0000255|HAMAP-Rule:MF_03202, ECO:0000269|PubMed:12371743, ECO:0000269|PubMed:20937905}.;
Recessive Scores
- pRec
- 0.180
Intolerance Scores
- LoFtool
- 0.819
- RVIS EVS
- -0.18
- RVIS percentile EVS
- 40.16
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.511
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |