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Aliases for DEGS2 Gene

Aliases for DEGS2 Gene

  • Delta(4)-Desaturase, Sphingolipid 2 2 3
  • Sphingolipid Delta(4)-Desaturase 2 2 3
  • Dihydroceramide Desaturase 2 2 3
  • C14orf66 3 4
  • DES2 3 6
  • Degenerative Spermatocyte Homolog 2, Lipid Desaturase (Drosophila) 2
  • Degenerative Spermatocyte Homolog 2, Lipid Desaturase 3
  • Sphingolipid Delta(4)-Desaturase/C4-Hydroxylase DES2 3
  • Sphingolipid Delta 4 Desaturase/C-4 Hydroxylase 3
  • Sphingolipid C4-Hydroxylase/Delta 4-Desaturase 3
  • Chromosome 14 Open Reading Frame 66 2
  • Degenerative Spermatocyte Homolog 2 4
  • EC 1.14.-.- 4
  • EC 1.-.-.- 4
  • FADS8 3

External Ids for DEGS2 Gene

Previous HGNC Symbols for DEGS2 Gene

  • C14orf66

Previous GeneCards Identifiers for DEGS2 Gene

  • GC14M099683
  • GC14M100612
  • GC14M080795

Summaries for DEGS2 Gene

Entrez Gene Summary for DEGS2 Gene

  • This gene encodes a bifunctional enzyme that is involved in the biosynthesis of phytosphingolipids in human skin and in other phytosphingolipid-containing tissues. This enzyme can act as a sphingolipid delta(4)-desaturase, and also as a sphingolipid C4-hydroxylase. [provided by RefSeq, Oct 2008]

GeneCards Summary for DEGS2 Gene

DEGS2 (Delta(4)-Desaturase, Sphingolipid 2) is a Protein Coding gene. Among its related pathways are Sphingolipid metabolism and Sphingolipid metabolism. GO annotations related to this gene include sphingosine hydroxylase activity and sphingolipid delta-4 desaturase activity. An important paralog of this gene is DEGS1.

UniProtKB/Swiss-Prot for DEGS2 Gene

  • Bifunctional enzyme which acts as both a sphingolipid delta(4)-desaturase and a sphingolipid C4-hydroxylase.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEGS2 Gene

Genomics for DEGS2 Gene

Regulatory Elements for DEGS2 Gene

Genomic Location for DEGS2 Gene

100,143,957 bp from pter
100,166,839 bp from pter
22,883 bases
Minus strand

Genomic View for DEGS2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DEGS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEGS2 Gene

Proteins for DEGS2 Gene

  • Protein details for DEGS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Sphingolipid delta(4)-desaturase/C4-hydroxylase DES2
    Protein Accession:
    Secondary Accessions:
    • Q6P492

    Protein attributes for DEGS2 Gene

    323 amino acids
    Molecular mass:
    37197 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DEGS2 Gene

Proteomics data for DEGS2 Gene at MOPED

Post-translational modifications for DEGS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DEGS2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for DEGS2 Gene

Domains for DEGS2 Gene

Gene Families for DEGS2 Gene

  • FADS :Fatty acid desaturases

Protein Domains for DEGS2 Gene

Suggested Antigen Peptide Sequences for DEGS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Q6QHC5
  • Belongs to the fatty acid desaturase family. DEGS subfamily.
genes like me logo Genes that share domains with DEGS2: view

Function for DEGS2 Gene

Molecular function for DEGS2 Gene

UniProtKB/Swiss-Prot Function:
Bifunctional enzyme which acts as both a sphingolipid delta(4)-desaturase and a sphingolipid C4-hydroxylase.
UniProtKB/Swiss-Prot Induction:
Up-regulated during keratinocyte differentiation. Not expressed at day 0 or day 3 after differentiation, detected on day 6 and increases by day 9.

Enzyme Numbers (IUBMB) for DEGS2 Gene

Gene Ontology (GO) - Molecular Function for DEGS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000170 sphingosine hydroxylase activity IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen --
GO:0042284 sphingolipid delta-4 desaturase activity IEA --
genes like me logo Genes that share ontologies with DEGS2: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DEGS2

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for DEGS2 Gene

Localization for DEGS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEGS2 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for DEGS2 Gene COMPARTMENTS Subcellular localization image for DEGS2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
extracellular 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for DEGS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DEGS2: view

Pathways for DEGS2 Gene

genes like me logo Genes that share pathways with DEGS2: view

Pathways by source for DEGS2 Gene

UniProtKB/Swiss-Prot Q6QHC5-DEGS2_HUMAN

  • Pathway: Membrane lipid metabolism; sphingolipid biosynthesis

Interacting Proteins for DEGS2 Gene

Gene Ontology (GO) - Biological Process for DEGS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process --
GO:0006665 sphingolipid metabolic process TAS --
GO:0006667 sphinganine metabolic process IEA --
GO:0030148 sphingolipid biosynthetic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with DEGS2: view

Compounds for DEGS2 Gene

(1) HMDB Compounds for DEGS2 Gene

Compound Synonyms Cas Number PubMed IDs
  • N-Acylsphinganine
Not Available
genes like me logo Genes that share compounds with DEGS2: view

Transcripts for DEGS2 Gene

mRNA/cDNA for DEGS2 Gene

(19) Selected AceView cDNA sequences:
(2) Additional mRNA sequences :
(2) REFSEQ mRNAs :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DEGS2 Gene

Delta(4)-desaturase, sphingolipid 2:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DEGS2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DEGS2 Gene

No ASD Table

Relevant External Links for DEGS2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DEGS2 Gene

mRNA expression in normal human tissues for DEGS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DEGS2 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (8.1), Skin - Not Sun Exposed (Suprapubic) (7.2), and Esophagus - Mucosa (6.1).

Protein differential expression in normal tissues for DEGS2 Gene

This gene is overexpressed in Breast (69.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for DEGS2 Gene

SOURCE GeneReport for Unigene cluster for DEGS2 Gene Hs.159643

mRNA Expression by UniProt/SwissProt for DEGS2 Gene

Tissue specificity: Highly expressed in skin, intestine and kidney.
genes like me logo Genes that share expressions with DEGS2: view

Expression partners for DEGS2 Gene

In Situ Assay Products

Orthologs for DEGS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DEGS2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia DEGS2 35
  • 88.96 (n)
  • 86.69 (a)
DEGS2 36
  • 87 (a)
(Canis familiaris)
Mammalia DEGS2 35
  • 91.12 (n)
  • 91.02 (a)
DEGS2 36
  • 91 (a)
(Mus musculus)
Mammalia Degs2 35
  • 82.46 (n)
  • 86.38 (a)
Degs2 16
Degs2 36
  • 86 (a)
(Pan troglodytes)
Mammalia DEGS2 35
  • 98.97 (n)
  • 99.38 (a)
DEGS2 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Degs2 35
  • 84.11 (n)
  • 86.69 (a)
(Monodelphis domestica)
Mammalia DEGS2 36
  • 68 (a)
(Ornithorhynchus anatinus)
Mammalia DEGS2 36
  • 77 (a)
(Gallus gallus)
Aves DEGS2 35
  • 68.32 (n)
  • 74.53 (a)
DEGS2 36
  • 75 (a)
(Anolis carolinensis)
Reptilia DEGS2 36
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia degs2 35
  • 65.92 (n)
  • 72.29 (a)
MGC75791 35
(Danio rerio)
Actinopterygii degs2 35
  • 70.62 (n)
  • 73.75 (a)
Dr.17314 35
degs2 36
  • 73 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2138 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011402 35
  • 64.23 (n)
  • 57.01 (a)
fruit fly
(Drosophila melanogaster)
Insecta ifc 35
  • 63.3 (n)
  • 57.73 (a)
ifc 36
  • 57 (a)
(Caenorhabditis elegans)
Secernentea ttm-5 35
  • 53.58 (n)
  • 54.21 (a)
F33D4.4 36
  • 44 (a)
ttm-5 36
  • 48 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR025W 35
  • 56.75 (n)
  • 46.41 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F18656g 35
  • 47.88 (n)
  • 42.35 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons DES-1-LIKE 35
  • 51.18 (n)
  • 46.45 (a)
(Oryza sativa)
Liliopsida Os02g0639600 35
  • 54.97 (n)
  • 48.52 (a)
(Triticum aestivum)
Liliopsida Ta.10247 35
bread mold
(Neurospora crassa)
Ascomycetes NCU08927 35
  • 58.71 (n)
  • 48.71 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dsd1 35
  • 45.91 (n)
  • 42.26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 60 (a)
Species with no ortholog for DEGS2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for DEGS2 Gene

Gene Tree for DEGS2 (if available)
Gene Tree for DEGS2 (if available)

Paralogs for DEGS2 Gene

Paralogs for DEGS2 Gene

Selected SIMAP similar genes for DEGS2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DEGS2: view

Variants for DEGS2 Gene

Sequence variations from dbSNP and Humsavar for DEGS2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs873563 -- 100,148,295(+) AGAGG(C/T)GTGCG intron-variant
rs878077 -- 100,148,786(-) GAGTC(C/T)TCTGC intron-variant
rs878078 -- 100,148,698(-) CTGAC(A/G)GGGTG intron-variant
rs1984717 -- 100,157,933(+) AAATA(C/G)AAAAT intron-variant
rs1984718 -- 100,158,127(+) ccagg(C/T)gtggt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DEGS2 Gene

Variant ID Type Subtype PubMed ID
nsv832874 CNV Loss 17160897
nsv527130 CNV Loss 19592680
nsv526793 CNV Loss 19592680
nsv902225 CNV Loss 21882294
nsv524413 CNV Loss 19592680
nsv902226 CNV Loss 21882294
esv1000926 CNV Deletion 20482838

Relevant External Links for DEGS2 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEGS2 Gene

Disorders for DEGS2 Gene

Relevant External Links for DEGS2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator

No disorders were found for DEGS2 Gene.

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for DEGS2 Gene

Publications for DEGS2 Gene

  1. Identification of the human sphingolipid C4-hydroxylase, hDES2, and its up-regulation during keratinocyte differentiation. (PMID: 15063729) Mizutani Y. … Igarashi Y. (FEBS Lett. 2004) 3 4 23
  2. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M. … Tokunaga K. (Hum. Genet. 2010) 3 48
  3. GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. (PMID: 21658281) Aouizerat B.E. … Tseng Z.H. (BMC Cardiovasc Disord 2011) 3 48
  4. Dihydroceramide-based response to hypoxia. (PMID: 21914808) Devlin C.M. … Petrache I. (J. Biol. Chem. 2011) 3
  5. The DNA sequence and analysis of human chromosome 14. (PMID: 12508121) Heilig R. … Weissenbach J. (Nature 2003) 4

Products for DEGS2 Gene

Sources for DEGS2 Gene

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