Human Gene ELOVL2 (ENST00000354666.4) from GENCODE V44
  Description: Homo sapiens ELOVL fatty acid elongase 2 (ELOVL2), mRNA. (from RefSeq NM_017770)
Gencode Transcript: ENST00000354666.4
Gencode Gene: ENSG00000197977.4
Transcript (Including UTRs)
   Position: hg38 chr6:10,980,759-11,044,305 Size: 63,547 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg38 chr6:10,983,781-11,044,230 Size: 60,450 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:10,980,759-11,044,305)mRNA (may differ from genome)Protein (296 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ELOV2_HUMAN
DESCRIPTION: RecName: Full=Elongation of very long chain fatty acids protein 2; EC=2.3.1.199; AltName: Full=3-keto acyl-CoA synthase ELOVL2; AltName: Full=ELOVL fatty acid elongase 2; Short=ELOVL FA elongase 2; AltName: Full=Very-long-chain 3-oxoacyl-CoA synthase 2;
FUNCTION: Condensing enzyme that catalyzes the synthesis of polyunsaturated very long chain fatty acid (C20- and C22-PUFA). Acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C20:4(n-6) acyl-CoA.
CATALYTIC ACTIVITY: A very-long-chain acyl-CoA + malonyl-CoA = CoA + a very-long-chain 3-oxoacyl-CoA + CO(2).
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Liver and testis.
DOMAIN: The di-lysine motif may confer endoplasmic reticulum localization (By similarity).
SIMILARITY: Belongs to the ELO family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ELOVL2
Diseases sorted by gene-association score: malignant melanoma, somatic (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.88 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 102.72 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -28.3075-0.377 Picture PostScript Text
3' UTR -714.203022-0.236 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002076 - GNS1_SUR4

Pfam Domains:
PF01151 - GNS1/SUR4 family

ModBase Predicted Comparative 3D Structure on Q9NXB9
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0009922 fatty acid elongase activity
GO:0016740 transferase activity
GO:0016747 transferase activity, transferring acyl groups other than amino-acyl groups
GO:0102336 3-oxo-arachidoyl-CoA synthase activity
GO:0102337 3-oxo-cerotoyl-CoA synthase activity
GO:0102338 3-oxo-lignoceronyl-CoA synthase activity

Biological Process:
GO:0000038 very long-chain fatty acid metabolic process
GO:0006629 lipid metabolic process
GO:0006631 fatty acid metabolic process
GO:0006633 fatty acid biosynthetic process
GO:0006636 unsaturated fatty acid biosynthetic process
GO:0019367 fatty acid elongation, saturated fatty acid
GO:0030148 sphingolipid biosynthetic process
GO:0034625 fatty acid elongation, monounsaturated fatty acid
GO:0034626 fatty acid elongation, polyunsaturated fatty acid
GO:0035338 long-chain fatty-acyl-CoA biosynthetic process
GO:0036109 alpha-linolenic acid metabolic process
GO:0042761 very long-chain fatty acid biosynthetic process
GO:0043651 linoleic acid metabolic process

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane


-  Descriptions from all associated GenBank mRNAs
  BC060809 - Homo sapiens elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2, mRNA (cDNA clone MGC:71645 IMAGE:5288523), complete cds.
BC050278 - Homo sapiens elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2, mRNA (cDNA clone MGC:33724 IMAGE:5295258), complete cds.
AK000341 - Homo sapiens cDNA FLJ20334 fis, clone HEP11362.
HQ448547 - Synthetic construct Homo sapiens clone IMAGE:100071983; CCSB010911_02 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2 (ELOVL2) gene, encodes complete protein.
KJ899034 - Synthetic construct Homo sapiens clone ccsbBroadEn_08428 ELOVL2 gene, encodes complete protein.
CU687434 - Synthetic construct Homo sapiens gateway clone IMAGE:100021139 5' read ELOVL2 mRNA.
AL080199 - Homo sapiens mRNA; cDNA DKFZp434E082 (from clone DKFZp434E082).
AJ420504 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 2069692.
JD324259 - Sequence 305283 from Patent EP1572962.
JD333627 - Sequence 314651 from Patent EP1572962.
JD434808 - Sequence 415832 from Patent EP1572962.
JD046361 - Sequence 27385 from Patent EP1572962.
JD289462 - Sequence 270486 from Patent EP1572962.
JD062070 - Sequence 43094 from Patent EP1572962.
JD308499 - Sequence 289523 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa01040 - Biosynthesis of unsaturated fatty acids

BioCyc Knowledge Library
PWY-7606 - docosahexaenoate biosynthesis III (6-desaturase, mammals)
PWY-7727 - docosahexaenoate biosynthesis IV (4-desaturase, mammals)
PWY-7728 - (4Z,7Z,10Z,13Z,16Z)-docosa-4,7,10,13,16-pentaenoate biosynthesis II (4-desaturase)

Reactome (by CSHL, EBI, and GO)

Protein Q9NXB9 (Reactome details) participates in the following event(s):

R-HSA-2046090 Elongation of docosapentaenoyl-CoA to tetracosapentaenoyl-CoA
R-HSA-2046095 Elongation of docosatetraenoyl-CoA to tetracosatetraenoyl-CoA
R-HSA-2046083 Elongation of arachidonyl-CoA to docosatetraenoyl-CoA
R-HSA-2046100 Elongation of eicosapentaenoyl-CoA to docosapentaenoyl-CoA
R-HSA-548800 ELOVL1,2,3,5 elongate AA-CoA and Mal-CoA to 3ODCT-CoA
R-HSA-2046088 Elongation of stearidonoyl-CoA to eicosatetraenoyl-CoA
R-HSA-2046094 Elongation of gamma-lenolenoyl-CoA to dihomo-gamma-lenolenoyl-CoA
R-HSA-2046106 alpha-linolenic acid (ALA) metabolism
R-HSA-2046105 Linoleic acid (LA) metabolism
R-HSA-75876 Synthesis of very long-chain fatty acyl-CoAs
R-HSA-2046104 alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
R-HSA-75105 Fatty acyl-CoA biosynthesis
R-HSA-8978868 Fatty acid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ELOV2_HUMAN, ENST00000354666.1, ENST00000354666.2, ENST00000354666.3, NM_017770, Q6P9E1, Q86W94, Q9NXB9, SSC2, uc003mzp.1, uc003mzp.2, uc003mzp.3, uc003mzp.4, uc003mzp.5, uc003mzp.6
UCSC ID: ENST00000354666.4
RefSeq Accession: NM_017770
Protein: Q9NXB9 (aka ELOV2_HUMAN or ELO2_HUMAN)
CCDS: CCDS4518.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.