Fatty acid elongases (EC 6.2.1.3), such as ELOVL6, use malonyl-CoA as a 2-carbon donor in the first and rate-limiting step of fatty acid elongation (Moon et al., 2001 [PubMed 11567032]).[supplied by OMIM, Mar 2008] See more...

Aliases for ELOVL6 Gene

Aliases for ELOVL6 Gene

  • ELOVL Fatty Acid Elongase 6 2 3 4 5
  • LCE 2 3 4
  • ELOVL Family Member 6, Elongation Of Long Chain Fatty Acids (FEN1/Elo2, SUR4/Elo3-Like, Yeast) 2 3
  • Elongation Of Very Long Chain Fatty Acids Protein 6 3 4
  • Very Long Chain 3-Ketoacyl-CoA Synthase 6 3 4
  • Very Long Chain 3-Oxoacyl-CoA Synthase 6 3 4
  • 3-Keto Acyl-CoA Synthase ELOVL6 3 4
  • Long-Chain Fatty-Acyl Elongase 3 4
  • Fatty Acyl-CoA Elongase 3 4
  • Fatty Acid Elongase 2 3 4
  • ELOVL FA Elongase 6 3 4
  • HELO2 3 4
  • FACE 3 4
  • EC 2.3.1.199 4
  • FLJ23378 2
  • MGC5487 2
  • ELOVL6 5
  • FAE 3

External Ids for ELOVL6 Gene

Previous GeneCards Identifiers for ELOVL6 Gene

  • GC04M111363
  • GC04M111429
  • GC04M111328
  • GC04M111189
  • GC04M110968
  • GC04M106702

Summaries for ELOVL6 Gene

Entrez Gene Summary for ELOVL6 Gene

  • Fatty acid elongases (EC 6.2.1.3), such as ELOVL6, use malonyl-CoA as a 2-carbon donor in the first and rate-limiting step of fatty acid elongation (Moon et al., 2001 [PubMed 11567032]).[supplied by OMIM, Mar 2008]

GeneCards Summary for ELOVL6 Gene

ELOVL6 (ELOVL Fatty Acid Elongase 6) is a Protein Coding gene. Diseases associated with ELOVL6 include Non-Alcoholic Steatohepatitis and Occupational Dermatitis. Among its related pathways are alpha-linolenic (omega3) and linoleic (omega6) acid metabolism and Regulation of cholesterol biosynthesis by SREBP (SREBF). Gene Ontology (GO) annotations related to this gene include transferase activity and transferase activity, transferring acyl groups other than amino-acyl groups. An important paralog of this gene is ELOVL3.

UniProtKB/Swiss-Prot Summary for ELOVL6 Gene

  • Catalyzes the first and rate-limiting reaction of the four reactions 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. Condensing enzyme that elongates fatty acids with 12, 14 and 16 carbons with higher activity toward C16:0 acyl-CoAs. Catalyzes the synthesis of unsaturated C16 long chain fatty acids and, to a lesser extent, C18:0 and those with low desaturation degree. May participate in the production of saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ELOVL6 Gene

Genomics for ELOVL6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ELOVL6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ELOVL6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ELOVL6

Top Transcription factor binding sites by QIAGEN in the ELOVL6 gene promoter:
  • Evi-1
  • HNF-3beta
  • N-Myc
  • p300
  • POU3F1

Genomic Locations for ELOVL6 Gene

Latest Assembly
chr4:110,045,846-110,199,199
(GRCh38/hg38)
Size:
153,354 bases
Orientation:
Minus strand

Previous Assembly
chr4:110,967,002-111,119,771
(GRCh37/hg19 by Entrez Gene)
Size:
152,770 bases
Orientation:
Minus strand

chr4:110,967,002-111,120,355
(GRCh37/hg19 by Ensembl)
Size:
153,354 bases
Orientation:
Minus strand

Genomic View for ELOVL6 Gene

Genes around ELOVL6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELOVL6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELOVL6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELOVL6 Gene

Proteins for ELOVL6 Gene

  • Protein details for ELOVL6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H5J4-ELOV6_HUMAN
    Recommended name:
    Elongation of very long chain fatty acids protein 6
    Protein Accession:
    Q9H5J4
    Secondary Accessions:
    • Q4W5L0
    • Q8NCD1

    Protein attributes for ELOVL6 Gene

    Size:
    265 amino acids
    Molecular mass:
    31376 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC11225.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ELOVL6 Gene

Post-translational modifications for ELOVL6 Gene

No data available for DME Specific Peptides for ELOVL6 Gene

Domains & Families for ELOVL6 Gene

Gene Families for ELOVL6 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for ELOVL6 Gene

InterPro:
Blocks:
  • GNS1/SUR4 membrane protein

Suggested Antigen Peptide Sequences for ELOVL6 Gene

GenScript: Design optimal peptide antigens:
  • Long-chain fatty-acyl elongase (ELOV6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H5J4

UniProtKB/Swiss-Prot:

ELOV6_HUMAN :
  • Belongs to the ELO family. ELOVL6 subfamily.
Family:
  • Belongs to the ELO family. ELOVL6 subfamily.
genes like me logo Genes that share domains with ELOVL6: view

Function for ELOVL6 Gene

Molecular function for ELOVL6 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the first and rate-limiting reaction of the four reactions 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. Condensing enzyme that elongates fatty acids with 12, 14 and 16 carbons with higher activity toward C16:0 acyl-CoAs. Catalyzes the synthesis of unsaturated C16 long chain fatty acids and, to a lesser extent, C18:0 and those with low desaturation degree. May participate in the production of saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a very-long-chain acyl-CoA + H(+) + malonyl-CoA = a very-long-chain 3-oxoacyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:32727, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:90725, ChEBI:CHEBI:90736; EC=2.3.1.199; Evidence={ECO:0000255|HAMAP-Rule:MF_03206, ECO:0000269|PubMed:19575253, ECO:0000269|PubMed:20937905, ECO:0000269|PubMed:25003994};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + hexadecanoyl-CoA + malonyl-CoA = 3-oxooctadecanoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:35315, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379, ChEBI:CHEBI:57384, ChEBI:CHEBI:71407; Evidence={ECO:0000269|PubMed:19575253, ECO:0000269|PubMed:20937905, ECO:0000269|PubMed:25003994};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z)-hexadecenoyl-CoA + H(+) + malonyl-CoA = 3-oxo-(11Z)-octadecenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:39675, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:61540, ChEBI:CHEBI:76555; Evidence={ECO:0000250|UniProtKB:Q920L5};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=dodecanoyl-CoA + H(+) + malonyl-CoA = 3-oxotetradecanoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:60140, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57375, ChEBI:CHEBI:57384, ChEBI:CHEBI:62543; Evidence={ECO:0000250|UniProtKB:Q920L5};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + malonyl-CoA + tetradecanoyl-CoA = 3-oxohexadecanoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:39167, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57349, ChEBI:CHEBI:57384, ChEBI:CHEBI:57385; Evidence={ECO:0000269|PubMed:19575253};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z)-octadecenoyl-CoA + H(+) + malonyl-CoA = (11Z)-3-oxoicosenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36511, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:57387, ChEBI:CHEBI:74011; Evidence={ECO:0000269|PubMed:20937905};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z,12Z)-octadecadienoyl-CoA + H(+) + malonyl-CoA = (11Z,14Z)-3-oxoicosa-11,14-dienoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36503, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57383, ChEBI:CHEBI:57384, ChEBI:CHEBI:74012; Evidence={ECO:0000269|PubMed:20937905};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z,12Z,15Z)-octadecatrienoyl-CoA + H(+) + malonyl-CoA = (11Z,14Z,17Z)-3-oxoeicosatrienoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36523, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:74034, ChEBI:CHEBI:74054; Evidence={ECO:0000269|PubMed:20937905};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.22 uM for hexadecanoyl-CoA (at 37 degrees Celsius and pH 6.8) {ECO:0000269|PubMed:25003994}; Vmax=0.79 pmol/min/ug enzyme with hexadecanoyl-CoA as substrate {ECO:0000269|PubMed:25003994};
UniProtKB/Swiss-Prot EnzymeRegulation:
The reaction is stimulated by the presence of HSD17B12, the enzyme catalyzing the second step of the elongation cycle.

Enzyme Numbers (IUBMB) for ELOVL6 Gene

Phenotypes From GWAS Catalog for ELOVL6 Gene

Gene Ontology (GO) - Molecular Function for ELOVL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20937905
GO:0009922 fatty acid elongase activity IEA,IMP 25003994
GO:0016740 transferase activity IEA --
GO:0016747 transferase activity, transferring acyl groups other than amino-acyl groups IEA --
GO:0102336 3-oxo-arachidoyl-CoA synthase activity IEA --
genes like me logo Genes that share ontologies with ELOVL6: view
genes like me logo Genes that share phenotypes with ELOVL6: view

Animal Models for ELOVL6 Gene

MGI Knock Outs for ELOVL6:
  • Elovl6 Elovl6<tm1b(EUCOMM)Hmgu>

Animal Models for research

miRNA for ELOVL6 Gene

miRTarBase miRNAs that target ELOVL6

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELOVL6

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ELOVL6 Gene

Localization for ELOVL6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELOVL6 Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ELOVL6 gene
Compartment Confidence
endoplasmic reticulum 5
peroxisome 3
plasma membrane 2
extracellular 2
mitochondrion 2
nucleus 2
cytosol 2
cytoskeleton 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ELOVL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA 20937905
GO:0005789 endoplasmic reticulum membrane IEA,TAS --
GO:0009923 fatty acid elongase complex IDA 25003994
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ELOVL6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ELOVL6 Gene

Pathways & Interactions for ELOVL6 Gene

genes like me logo Genes that share pathways with ELOVL6: view

UniProtKB/Swiss-Prot Q9H5J4-ELOV6_HUMAN

  • Pathway: Lipid metabolism; fatty acid biosynthesis.

Gene Ontology (GO) - Biological Process for ELOVL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006633 fatty acid biosynthetic process IEA --
GO:0006636 unsaturated fatty acid biosynthetic process IEA --
GO:0019367 fatty acid elongation, saturated fatty acid IEA,IGI 26214738
genes like me logo Genes that share ontologies with ELOVL6: view

No data available for SIGNOR curated interactions for ELOVL6 Gene

Drugs & Compounds for ELOVL6 Gene

(3) Drugs for ELOVL6 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Malonyl-CoA Experimental Pharma 0
Coenzyme A Investigational Nutra 0

(2) Additional Compounds for ELOVL6 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Oxooctadecanoyl-CoA
  • 3-Ketostearoyl-CoA
  • 3-Ketostearoyl-coenzyme A
  • 3-Oxostearoyl-CoA
  • 3-Oxostearoyl-coenzyme A
  • beta-Ketostearoyl-CoA
86370-20-9
hexadecanoyl-CoA
  • coenzyme A, S-Hexadecanoate
  • Palmitoyl coenzyme A
  • S-Palmitoylcoenzyme A
  • coenzyme A, S-Hexadecanoic acid
  • Hexadecanoyl-CoA
genes like me logo Genes that share compounds with ELOVL6: view

Transcripts for ELOVL6 Gene

mRNA/cDNA for ELOVL6 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELOVL6

Alternative Splicing Database (ASD) splice patterns (SP) for ELOVL6 Gene

No ASD Table

Relevant External Links for ELOVL6 Gene

GeneLoc Exon Structure for
ELOVL6

Expression for ELOVL6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ELOVL6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ELOVL6 Gene

This gene is overexpressed in Liver (x4.3).

Protein differential expression in normal tissues from HIPED for ELOVL6 Gene

This gene is overexpressed in Liver (57.9) and Platelet (11.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ELOVL6 Gene



Protein tissue co-expression partners for ELOVL6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ELOVL6

SOURCE GeneReport for Unigene cluster for ELOVL6 Gene:

Hs.412939

mRNA Expression by UniProt/SwissProt for ELOVL6 Gene:

Q9H5J4-ELOV6_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for ELOVL6 Gene

  • Liver(3)
  • Nervous system(2.9)
  • Muscle(2.7)
  • Heart(2.4)
  • Skin(2.3)
  • Stomach(2)
genes like me logo Genes that share expression patterns with ELOVL6: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ELOVL6 Gene

Orthologs for ELOVL6 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ELOVL6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ELOVL6 29 30
  • 100 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ELOVL6 29 30
  • 95.97 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ELOVL6 29
  • 94.3 (n)
MGC139109 30
  • 94 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Elovl6 29
  • 93.33 (n)
Mouse
(Mus musculus)
Mammalia Elovl6 29 16 30
  • 93.21 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ELOVL6 30
  • 85 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ELOVL6 30
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ELOVL6 29 30
  • 88.55 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ELOVL6 30
  • 93 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia elovl6 29
  • 81.38 (n)
Str.11921 29
Zebrafish
(Danio rerio)
Actinopterygii elovl6 29 30
  • 80.03 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006520 29
  • 57.71 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Baldspot 29 30
  • 56.29 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea elo-3 29 30
  • 51.12 (n)
ManyToMany
elo-4 30
  • 33 (a)
ManyToMany
elo-2 30
  • 33 (a)
ManyToMany
elo-9 30
  • 32 (a)
ManyToMany
elo-6 30
  • 31 (a)
ManyToMany
elo-1 30
  • 28 (a)
ManyToMany
elo-5 30
  • 26 (a)
ManyToMany
elo-7 30
  • 24 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ELO1 30 32
  • 23 (a)
ManyToMany
FEN1 30
  • 21 (a)
ManyToMany
SUR4 30
  • 20 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 36 (a)
OneToOne
Species where no ortholog for ELOVL6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 Vase (Ciona intestinalis)
  • 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)

Evolution for ELOVL6 Gene

ENSEMBL:
Gene Tree for ELOVL6 (if available)
TreeFam:
Gene Tree for ELOVL6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ELOVL6: view image
Alliance of Genome Resources:
Additional Orthologs for ELOVL6

Paralogs for ELOVL6 Gene

Paralogs for ELOVL6 Gene

(1) SIMAP similar genes for ELOVL6 Gene using alignment to 4 proteins:

  • ELOV6_HUMAN
  • D6RBP4_HUMAN
  • D6RCU0_HUMAN
  • D6RHI2_HUMAN

Pseudogenes.org Pseudogenes for ELOVL6 Gene

genes like me logo Genes that share paralogs with ELOVL6: view

Variants for ELOVL6 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ELOVL6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ELOVL6 Gene

Variant ID Type Subtype PubMed ID
dgv98n17 CNV loss 16327808
esv1003394 CNV insertion 20482838
esv1138951 CNV insertion 17803354
esv22044 CNV loss 19812545
esv2665459 CNV deletion 23128226
esv2670042 CNV deletion 23128226
esv2677534 CNV deletion 23128226
esv2760833 CNV loss 21179565
esv2762456 CNV loss 21179565
esv3569655 CNV loss 25503493
esv3569656 CNV loss 25503493
esv3569657 CNV loss 25503493
esv3601754 CNV loss 21293372
esv3601755 CNV loss 21293372
esv3601756 CNV loss 21293372
esv3601758 CNV loss 21293372
esv3894004 CNV loss 25118596
nsv1128087 CNV deletion 24896259
nsv290523 CNV deletion 16902084
nsv595145 CNV loss 21841781

Variation tolerance for ELOVL6 Gene

Residual Variation Intolerance Score: 40.1% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ELOVL6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELOVL6
Leiden Open Variation Database (LOVD)
ELOVL6

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ELOVL6 Gene

Disorders for ELOVL6 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ELOVL6 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
non-alcoholic steatohepatitis
  • nash
occupational dermatitis
  • occupational allergic contact dermatitis
fetal akinesia deformation sequence 1
  • fads1
type 2 diabetes mellitus
  • t2d
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ELOVL6

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ELOVL6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ELOVL6 Gene

Publications for ELOVL6 Gene

  1. Regulation of mitochondrial morphology and function by stearoylation of TFR1. (PMID: 26214738) Senyilmaz D … Teleman AA (Nature 2015) 3 4
  2. Two modes of regulation of the fatty acid elongase ELOVL6 by the 3-ketoacyl-CoA reductase KAR in the fatty acid elongation cycle. (PMID: 25003994) Naganuma T … Kihara A (PloS one 2014) 3 4
  3. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PMID: 20332099) Kalsi G … Riley BP (Human molecular genetics 2010) 3 40
  4. Family-based genome-wide association scan of attention-deficit/hyperactivity disorder. (PMID: 20732626) Mick E … Faraone SV (Journal of the American Academy of Child and Adolescent Psychiatry 2010) 3 40
  5. ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis. (PMID: 20937905) Ohno Y … Kihara A (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4

Products for ELOVL6 Gene

Sources for ELOVL6 Gene