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

Gene ID: 54898, updated on 4-Feb-2024

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, Apr 2022]
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

See ELOVL2 in Genome Data Viewer
Location:
6p24.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (10980759..11044305, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (10848429..10911922, complement)
105.20220307 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 synaptonemal complex protein 2 like Neighboring gene glial cells missing transcription factor 2 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 NANOG-H3K27ac hESC enhancer GRCh37_chr6:11126939-11127440 Neighboring gene endogenous retrovirus group FRD member 1, envelope Neighboring gene small integral membrane protein 13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23978 Neighboring gene Sharpr-MPRA regulatory region 2452 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:11185257-11186456 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:11189930-11190701 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:11190702-11191472 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:11195391-11196257 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:11196258-11197123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23979 Neighboring gene uncharacterized LOC124901256 Neighboring gene neural precursor cell expressed, developmentally down-regulated 9

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 
Component Evidence Code Pubs
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
very long chain fatty acid elongase 2; elongation of very long chain fatty acids protein 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
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)

NEW Try the new Transcript table

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_017770.4NP_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:30264
    ELO; GNS1/SUR4 family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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_011514717.4XP_011513019.1  elongation of very long chain fatty acids protein 2 isoform X2

    Conserved Domains (1) summary
    pfam01151
    Location:31265
    ELO; GNS1/SUR4 family
  2. XM_011514716.4XP_011513018.1  elongation of very long chain fatty acids protein 2 isoform X1

    Conserved Domains (1) summary
    pfam01151
    Location:60294
    ELO; GNS1/SUR4 family
  3. XM_017010985.2XP_016866474.1  elongation of very long chain fatty acids protein 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_054355748.1XP_054211723.1  elongation of very long chain fatty acids protein 2 isoform X2

  2. XM_054355747.1XP_054211722.1  elongation of very long chain fatty acids protein 2 isoform X1

  3. XM_054355749.1XP_054211724.1  elongation of very long chain fatty acids protein 2 isoform X3