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

Gene ID: 54898, updated on 2-Nov-2024

Summary

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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
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Genomic context

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See ELOVL2 in Genome Data Viewer
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_000006.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 8043 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:10886452-10887220 Neighboring gene glial cells missing transcription factor 2 Neighboring gene synaptonemal complex protein 2 like Neighboring gene uncharacterized LOC101928191 Neighboring gene Sharpr-MPRA regulatory region 7443 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:10963174-10963734 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:10976416-10976916 Neighboring gene siah E3 ubiquitin protein ligase family member 3 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:11045068-11045568 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:11045569-11046069 Neighboring gene ELOVL2 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:11093674-11094214 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:11094215-11094756 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16910 Neighboring gene small integral membrane protein 13 Neighboring gene endogenous retrovirus group FRD member 1, envelope Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:11126939-11127440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23978 Neighboring gene PAGE4 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. ELOVL2-methylation and renal and cardiovascular event in patients with chronic kidney disease. Obeid R, et al. Eur J Clin Invest, 2023 Dec. PMID 37493252
  2. Fatty acid elongases in mammals: their regulation and roles in metabolism. Jakobsson A, et al. Prog Lipid Res, 2006 May. PMID 16564093
  3. Methylation of ELOVL2 gene as a new epigenetic marker of age. Garagnani P, et al. Aging Cell, 2012 Dec. PMID 23061750
  4. Examination of DNA methylation status of the ELOVL2 marker may be useful for human age prediction in forensic science. Zbieć-Piekarska R, et al. Forensic Sci Int Genet, 2015 Jan. PMID 25450787
  5. Systemic Age-Associated DNA Hypermethylation of ELOVL2 Gene: In Vivo and In Vitro Evidences of a Cell Replication Process. Bacalini MG, et al. J Gerontol A Biol Sci Med Sci, 2017 Aug 1. PMID 27672102, Free PMC Article

See all (57) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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
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
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
EBI GWAS Catalog
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
Human metabolic individuality in biomedical and pharmaceutical research.
EBI GWAS Catalog
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ20334

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
XP_011513018.1
XP_011513019.1
XP_016866474.1
XP_054211722.1
XP_054211723.1
XP_054211724.1

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)

  1. 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

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    10980759..11044305 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. XM_017010985.2 → XP_016866474.1  very long chain fatty acid elongase 2 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    10848429..10911922 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054355748.1 → XP_054211723.1  very long chain fatty acid elongase 2 isoform X2

  2. XM_054355747.1 → XP_054211722.1  very long chain fatty acid elongase 2 isoform X1

  3. XM_054355749.1 → XP_054211724.1  very long chain fatty acid elongase 2 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NXB9.2 GenPept UniProtKB/Swiss-Prot:Q9NXB9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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