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

Gene ID: 54898, updated on 8-Jul-2021

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
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
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
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (10980759..11044305, complement)
105.20201022 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 synaptonemal complex protein 2 like Neighboring gene uncharacterized LOC101928191 Neighboring gene Sharpr-MPRA regulatory region 7443 Neighboring gene siah E3 ubiquitin protein ligase family member 3 pseudogene Neighboring gene ELOVL2 antisense RNA 1 Neighboring gene endogenous retrovirus group FRD member 1, envelope Neighboring gene small integral membrane protein 13 Neighboring gene neural precursor cell expressed, developmentally down-regulated 9 Neighboring gene uncharacterized LOC105374925

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

Associated conditions

Description Tests
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.
GeneReviews: Not available
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
GeneReviews: Not available
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
GeneReviews: Not available
Human metabolic individuality in biomedical and pharmaceutical research.
GeneReviews: Not available
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
GeneReviews: Not available

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

Homology

Clone Names

  • FLJ20334

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 3-oxo-arachidoyl-CoA synthase activity IEA
Inferred from Electronic Annotation
more info
 
enables 3-oxo-cerotoyl-CoA synthase activity IEA
Inferred from Electronic Annotation
more info
 
enables 3-oxo-lignoceronyl-CoA synthase activity IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
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 
enables very-long-chain 3-ketoacyl-CoA synthase activity IEA
Inferred from Electronic Annotation
more info
 
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
 
is_active_in integral component of endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
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

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_017770.4NP_060240.3  elongation of very long chain fatty acids protein 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
    Q9NXB9
    UniProtKB/TrEMBL
    A0A024QZV3
    Related
    ENSP00000346693.3, ENST00000354666.4
    Conserved Domains (1) summary
    pfam01151
    Location:30264
    ELO; GNS1/SUR4 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011514716.3XP_011513018.1  elongation of very long chain fatty acids protein 2 isoform X1

    Conserved Domains (1) summary
    pfam01151
    Location:60294
    ELO; GNS1/SUR4 family
  2. XM_011514717.3XP_011513019.1  elongation of very long chain fatty acids protein 2 isoform X2

    Conserved Domains (1) summary
    pfam01151
    Location:31265
    ELO; GNS1/SUR4 family
  3. XM_017010985.1XP_016866474.1  elongation of very long chain fatty acids protein 2 isoform X3

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