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

    Gene ID: 54898, updated on 28-Oct-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, Oct 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

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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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