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Aliases for ELOVL2 Gene

Aliases for ELOVL2 Gene

  • ELOVL Fatty Acid Elongase 2 2 3 4 5
  • Elongation Of Very Long Chain Fatty Acids (FEN1/Elo2, SUR4/Elo3, Yeast)-Like 2 2 3
  • Very Long Chain 3-Ketoacyl-CoA Synthase 2 3 4
  • Very Long Chain 3-Oxoacyl-CoA Synthase 2 3 4
  • 3-Keto Acyl-CoA Synthase ELOVL2 3 4
  • ELOVL FA Elongase 2 3 4
  • SSC2 3 4
  • Very-Long-Chain 3-Oxoacyl-CoA Synthase 2 3
  • EC 2.3.1.199 4

External Ids for ELOVL2 Gene

Previous GeneCards Identifiers for ELOVL2 Gene

  • GC06M011040
  • GC06M011088
  • GC06M010912

Summaries for ELOVL2 Gene

GeneCards Summary for ELOVL2 Gene

ELOVL2 (ELOVL Fatty Acid Elongase 2) is a Protein Coding gene. Diseases associated with ELOVL2 include gastric antral vascular ectasia and malignant melanoma, somatic. Among its related pathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). GO annotations related to this gene include transferase activity, transferring acyl groups other than amino-acyl groups and fatty acid elongase activity. An important paralog of this gene is ELOVL6.

UniProtKB/Swiss-Prot for ELOVL2 Gene

  • Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C20:4(n-6) acyl-CoA. Condensing enzyme that catalyzes the synthesis of polyunsaturated very long chain fatty acid (C20- and C22-PUFA). May participate to the production of polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELOVL2 Gene

Genomics for ELOVL2 Gene

Regulatory Elements for ELOVL2 Gene

Promoters for ELOVL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ELOVL2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ELOVL2 Gene

Chromosome:
6
Start:
10,980,759 bp from pter
End:
11,044,391 bp from pter
Size:
63,633 bases
Orientation:
Minus strand

Genomic View for ELOVL2 Gene

Genes around ELOVL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELOVL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELOVL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELOVL2 Gene

Proteins for ELOVL2 Gene

  • Protein details for ELOVL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NXB9-ELOV2_HUMAN
    Recommended name:
    Elongation of very long chain fatty acids protein 2
    Protein Accession:
    Q9NXB9
    Secondary Accessions:
    • Q6P9E1
    • Q86W94

    Protein attributes for ELOVL2 Gene

    Size:
    296 amino acids
    Molecular mass:
    34585 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ELOVL2 Gene

Proteomics data for ELOVL2 Gene at MOPED

Post-translational modifications for ELOVL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ELOVL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for ELOVL2 Gene

Domains & Families for ELOVL2 Gene

Protein Domains for ELOVL2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ELOVL2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NXB9

UniProtKB/Swiss-Prot:

ELOV2_HUMAN :
  • The C-terminal di-lysine motif may confer endoplasmic reticulum localization.
  • Belongs to the ELO family. ELOVL2 subfamily.
Domain:
  • The C-terminal di-lysine motif may confer endoplasmic reticulum localization.
Family:
  • Belongs to the ELO family. ELOVL2 subfamily.
genes like me logo Genes that share domains with ELOVL2: view

No data available for Gene Families for ELOVL2 Gene

Function for ELOVL2 Gene

Molecular function for ELOVL2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
A very-long-chain acyl-CoA + malonyl-CoA = CoA + a very-long-chain 3-oxoacyl-CoA + CO(2).
UniProtKB/Swiss-Prot Function:
Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C20:4(n-6) acyl-CoA. Condensing enzyme that catalyzes the synthesis of polyunsaturated very long chain fatty acid (C20- and C22-PUFA). May participate to the production of polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.

Enzyme Numbers (IUBMB) for ELOVL2 Gene

Phenotypes for ELOVL2 Gene

genes like me logo Genes that share phenotypes with ELOVL2: view

Animal Model Products

miRNA for ELOVL2 Gene

miRTarBase miRNAs that target ELOVL2

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ELOVL2 Gene

Localization for ELOVL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELOVL2 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ELOVL2 Gene COMPARTMENTS Subcellular localization image for ELOVL2 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 1
extracellular 1
golgi apparatus 1
mitochondrion 1
nucleus 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for ELOVL2 Gene

Pathways & Interactions for ELOVL2 Gene

genes like me logo Genes that share pathways with ELOVL2: view

UniProtKB/Swiss-Prot Q9NXB9-ELOV2_HUMAN

  • Pathway: Lipid metabolism; polyunsaturated fatty acid biosynthesis.

Interacting Proteins for ELOVL2 Gene

Gene Ontology (GO) - Biological Process for ELOVL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006636 unsaturated fatty acid biosynthetic process IEA --
GO:0034626 fatty acid elongation, polyunsaturated fatty acid IEA,IDA 12371743
GO:0042761 very long-chain fatty acid biosynthetic process IEA,IDA 12371743
GO:0043651 linoleic acid metabolic process TAS --
GO:0044255 cellular lipid metabolic process TAS --
genes like me logo Genes that share ontologies with ELOVL2: view

No data available for SIGNOR curated interactions for ELOVL2 Gene

Drugs & Compounds for ELOVL2 Gene

(3) Drugs for ELOVL2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acetoacetyl-CoA Experimental Pharma 0
malonyl-coa Experimental Pharma 0
Coenzyme A Nutra 0

(2) Additional Compounds for ELOVL2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(S)-3-Hydroxyhexadecanoyl-CoA
  • (S)-3-hydroxyhexadecanoyl-coenzyme A
  • (S)-3-hydroxypalmitoyl-coenzyme A
  • b-Hydroxypalmitoyl-CoA
  • b-Hydroxypalmitoyl-Coenzyme A
  • beta-Hydroxypalmitoyl-CoA
35106-50-4
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
genes like me logo Genes that share compounds with ELOVL2: view

Transcripts for ELOVL2 Gene

mRNA/cDNA for ELOVL2 Gene

Unigene Clusters for ELOVL2 Gene

ELOVL fatty acid elongase 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ELOVL2 Gene

No ASD Table

Relevant External Links for ELOVL2 Gene

GeneLoc Exon Structure for
ELOVL2
ECgene alternative splicing isoforms for
ELOVL2

Expression for ELOVL2 Gene

mRNA expression in normal human tissues for ELOVL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ELOVL2 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x6.2), Brain - Nucleus accumbens (basal ganglia) (x4.5), and Liver (x4.0).

Protein differential expression in normal tissues from HIPED for ELOVL2 Gene

This gene is overexpressed in Breast (32.4), Fetal testis (27.4), and Fetal Liver (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ELOVL2 Gene



SOURCE GeneReport for Unigene cluster for ELOVL2 Gene Hs.656436

mRNA Expression by UniProt/SwissProt for ELOVL2 Gene

Q9NXB9-ELOV2_HUMAN
Tissue specificity: Liver and testis.
genes like me logo Genes that share expression patterns with ELOVL2: view

Protein tissue co-expression partners for ELOVL2 Gene

Primer Products

In Situ Assay Products

Orthologs for ELOVL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ELOVL2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ELOVL2 35
  • 87.07 (n)
  • 92.18 (a)
ELOVL2 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ELOVL2 35
  • 89.25 (n)
  • 94.62 (a)
ELOVL2 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Elovl2 35
  • 85.39 (n)
  • 89.73 (a)
Elovl2 16
Elovl2 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ELOVL2 35
  • 99.44 (n)
  • 100 (a)
ELOVL2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Elovl2 35
  • 84.71 (n)
  • 90.68 (a)
oppossum
(Monodelphis domestica)
Mammalia ELOVL2 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELOVL2 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves ELOVL2 35
  • 75.9 (n)
  • 79.73 (a)
ELOVL2 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ELOVL2 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia elovl2 35
  • 71.96 (n)
  • 76.35 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16695 35
zebrafish
(Danio rerio)
Actinopterygii elovl2 35
  • 67.44 (n)
  • 73.46 (a)
elovl2 36
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6921 37
  • 36 (a)
Elo68alpha 36
  • 36 (a)
ManyToMany
Elo68beta 36
  • 35 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
ManyToMany
Species with no ortholog for ELOVL2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ELOVL2 Gene

ENSEMBL:
Gene Tree for ELOVL2 (if available)
TreeFam:
Gene Tree for ELOVL2 (if available)

Paralogs for ELOVL2 Gene

Paralogs for ELOVL2 Gene

(4) SIMAP similar genes for ELOVL2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ELOVL2: view

Variants for ELOVL2 Gene

Sequence variations from dbSNP and Humsavar for ELOVL2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs17855038 - 10,989,822(+) GATGG(C/T)GAGCA reference, missense
rs6919726 - 10,989,795(+) TTTCA(C/T)GACGG reference, missense
rs8523 -- 10,980,820(-) CATTT(C/T)TCTTT utr-variant-3-prime
rs976081 -- 11,003,642(+) ATCTT(G/T)CCTTC intron-variant
rs949557 -- 11,025,750(+) TAAAA(C/T)GTACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ELOVL2 Gene

Variant ID Type Subtype PubMed ID
esv2661047 CNV Deletion 23128226
esv2731587 CNV Deletion 23290073
esv2665577 CNV Deletion 23128226
esv2731588 CNV Deletion 23290073
esv2731589 CNV Deletion 23290073
esv2731590 CNV Deletion 23290073
nsv5198 CNV Insertion 18451855

Variation tolerance for ELOVL2 Gene

Residual Variation Intolerance Score: 45.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.59; 30.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ELOVL2 Gene

HapMap Linkage Disequilibrium report
ELOVL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELOVL2 Gene

Disorders for ELOVL2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ELOVL2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
gastric antral vascular ectasia
  • watermelon stomach
malignant melanoma, somatic
  • familial melanoma
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ELOVL2

Genetic Association Database (GAD)
ELOVL2
Human Genome Epidemiology (HuGE) Navigator
ELOVL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ELOVL2
genes like me logo Genes that share disorders with ELOVL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ELOVL2 Gene

Publications for ELOVL2 Gene

  1. Identification and expression of mammalian long-chain PUFA elongation enzymes. (PMID: 12371743) Leonard A.E. … Huang Y.-S. (Lipids 2002) 2 3 4 67
  2. Fatty acid elongases in mammals: their regulation and roles in metabolism. (PMID: 16564093) Jakobsson A. … Jacobsson A. (Prog. Lipid Res. 2006) 2 3
  3. Examination of DNA methylation status of the ELOVL2 marker may be useful for human age prediction in forensic science. (PMID: 25450787) ZbieA8-Piekarska R. … Branicki W. (Forensic Sci Int Genet 2015) 3
  4. Differential effects of Tat proteins derived from HIV-1 subtypes B and recombinant CRF02_AG on human brain microvascular endothelial cells: implications for blood-brain barrier dysfunction. (PMID: 24667918) Woollard S.M. … Kanmogne G.D. (J. Cereb. Blood Flow Metab. 2014) 3
  5. An atlas of genetic influences on human blood metabolites. (PMID: 24816252) Shin S.Y. … Soranzo N. (Nat. Genet. 2014) 3

Products for ELOVL2 Gene

Sources for ELOVL2 Gene

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