ELOVL2 ELOVL fatty acid elongase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ELOVL2provided by HGNC
Official Full Name: ELOVL fatty acid elongase 2provided by HGNC
Primary source: HGNC:HGNC:14416
See related: Ensembl:ENSG00000197977 MIM:611814; AllianceGenome:HGNC:14416
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SSC2
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, Nov 2024]
Expression: Biased expression in placenta (RPKM 12.7), liver (RPKM 10.4) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p24.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (10980759..11044305, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (10848429..10911922, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (10980992..11044538, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ELOVL2-methylation and renal and cardiovascular event in patients with chronic kidney disease.
Title: ELOVL2-methylation and renal and cardiovascular event in patients with chronic kidney disease.
An ELOVL2-Based Epigenetic Clock for Forensic Age Prediction: A Systematic Review.
Title: An ELOVL2-Based Epigenetic Clock for Forensic Age Prediction: A Systematic Review.
ELOVL2 restrains cell proliferation, migration, and invasion of prostate cancer via regulation of the tumor suppressor INPP4B.
Title: ELOVL2 restrains cell proliferation, migration, and invasion of prostate cancer via regulation of the tumor suppressor INPP4B.
ELOVL2 promotes cancer progression by inhibiting cell apoptosis in renal cell carcinoma.
Title: ELOVL2 promotes cancer progression by inhibiting cell apoptosis in renal cell carcinoma.
Influence of genetic variants in FADS2 and ELOVL2 genes on BMI and PUFAs homeostasis in children and adolescents with obesity.
Title: Influence of genetic variants in FADS2 and ELOVL2 genes on BMI and PUFAs homeostasis in children and adolescents with obesity.
Higher Increase in Plasma DHA in Females Compared to Males Following EPA Supplementation May Be Influenced by a Polymorphism in ELOVL2: An Exploratory Study.
Title: Higher Increase in Plasma DHA in Females Compared to Males Following EPA Supplementation May Be Influenced by a Polymorphism in ELOVL2: An Exploratory Study.
FADS1 and ELOVL2 polymorphisms reveal associations for differences in lipid metabolism in a cross-sectional population-based survey of Brazilian men and women.
Title: FADS1 and ELOVL2 polymorphisms reveal associations for differences in lipid metabolism in a cross-sectional population-based survey of Brazilian men and women.
Association Between Genetic Variants in FADS1-FADS2 and ELOVL2 and Obesity, Lipid Traits, and Fatty Acids in Tunisian Population.
Title: Association Between Genetic Variants in FADS1-FADS2 and ELOVL2 and Obesity, Lipid Traits, and Fatty Acids in Tunisian Population.
Improvements and inter-laboratory implementation and optimization of blood-based single-locus age prediction models using DNA methylation of the ELOVL2 promoter.
Title: Improvements and inter-laboratory implementation and optimization of blood-based single-locus age prediction models using DNA methylation of the ELOVL2 promoter.
Genetic variants in FADS1 and ELOVL2 increase level of arachidonic acid and the risk of Alzheimer's disease in the Tunisian population.
Title: Genetic variants in FADS1 and ELOVL2 increase level of arachidonic acid and the risk of Alzheimer's disease in the Tunisian population.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
Human metabolic individuality in biomedical and pharmaceutical research. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Microarray analysis indicates HIV-1 Tat-induced upregulation of ELOVL fatty acid elongase 2 (ELOVL2) in primary human brain microvascular endothelial cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-141925 (e-PCR)
- UniSTS:184332

A006P33 (e-PCR)
- UniSTS:35796

RH70182 (e-PCR)
- UniSTS:69857

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables fatty acid elongase activity	EXP Inferred from Experiment more info	PubMed
enables fatty acid elongase activity	IBA Inferred from Biological aspect of Ancestor more info
enables fatty acid elongase activity	IDA Inferred from Direct Assay more info	PubMed
enables fatty acid elongase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in alpha-linolenic acid metabolic process	TAS Traceable Author Statement more info
involved_in fatty acid elongation, monounsaturated fatty acid	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid elongation, polyunsaturated fatty acid	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid elongation, polyunsaturated fatty acid	IDA Inferred from Direct Assay more info	PubMed
involved_in fatty acid elongation, saturated fatty acid	IBA Inferred from Biological aspect of Ancestor more info
involved_in linoleic acid metabolic process	TAS Traceable Author Statement more info
involved_in long-chain fatty-acyl-CoA biosynthetic process	TAS Traceable Author Statement more info
involved_in sphingolipid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in unsaturated fatty acid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in very long-chain fatty acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in very long-chain fatty acid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: very long chain fatty acid elongase 2

Names: 3-keto acyl-CoA synthase ELOVL2; ELOVL FA elongase 2; elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2; elongation of very long chain fatty acids protein 2; very long chain 3-ketoacyl-CoA synthase 2; very long chain 3-oxoacyl-CoA synthase 2

NP_060240.3

EC 2.3.1.199

XP_011513018.1

EC 2.3.1.199

XP_011513019.1

EC 2.3.1.199

XP_016866474.1

EC 2.3.1.199

XP_054211722.1

EC 2.3.1.199

XP_054211723.1

EC 2.3.1.199

XP_054211724.1

EC 2.3.1.199

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_017770.4 → NP_060240.3 very long chain fatty acid elongase 2

See identical proteins and their annotated locations for NP_060240.3

Status: VALIDATED

Source sequence(s)

AK000341, AL080199, AL121955, BC050278

Consensus CDS

CCDS4518.1

UniProtKB/Swiss-Prot

Q6P9E1, Q86W94, Q9NXB9

Related

ENSP00000346693.3, ENST00000354666.4

Conserved Domains (1) summary

pfam01151
Location:30 → 264

ELO; GNS1/SUR4 family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

10980759..11044305 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011514717.4 → XP_011513019.1 very long chain fatty acid elongase 2 isoform X2

Conserved Domains (1) summary

pfam01151
Location:31 → 265

ELO; GNS1/SUR4 family
XM_011514716.4 → XP_011513018.1 very long chain fatty acid elongase 2 isoform X1

Conserved Domains (1) summary

pfam01151
Location:60 → 294

ELO; GNS1/SUR4 family
XM_017010985.2 → XP_016866474.1 very long chain fatty acid elongase 2 isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

10848429..10911922 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054355748.1 → XP_054211723.1 very long chain fatty acid elongase 2 isoform X2
XM_054355747.1 → XP_054211722.1 very long chain fatty acid elongase 2 isoform X1
XM_054355749.1 → XP_054211724.1 very long chain fatty acid elongase 2 isoform X3