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Aliases for DEGS2 Gene

Aliases for DEGS2 Gene

  • Delta(4)-Desaturase, Sphingolipid 2 2 3 5
  • Sphingolipid Delta(4)-Desaturase 2 2 3
  • Sphingolipid C4-Monooxygenase 3 4
  • Dihydroceramide Desaturase 2 2 3
  • Sphingolipid 4-Desaturase 3 4
  • C14orf66 3 4
  • 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 1.14.19.17 4
  • EC 1.14.18.5 4
  • FADS8 3
  • DES2 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 signaling pathway and Metabolism. GO annotations related to this gene include oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen and sphingosine hydroxylase 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-monooxygenase.

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

Enhancers for DEGS2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DEGS2 on UCSC Golden Path with GeneCards custom track

Genomic Location for DEGS2 Gene

Chromosome:
14
Start:
100,143,957 bp from pter
End:
100,166,882 bp from pter
Size:
22,926 bases
Orientation:
Minus strand

Genomic View for DEGS2 Gene

Genes around DEGS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEGS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q6QHC5-DEGS2_HUMAN
    Recommended name:
    Sphingolipid delta(4)-desaturase/C4-monooxygenase DES2
    Protein Accession:
    Q6QHC5
    Secondary Accessions:
    • Q6P492

    Protein attributes for DEGS2 Gene

    Size:
    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:
REFSEQ proteins:

No data available for DME Specific Peptides for DEGS2 Gene

Domains & Families for DEGS2 Gene

Gene Families for DEGS2 Gene

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

UniProtKB/Swiss-Prot:

DEGS2_HUMAN :
  • Belongs to the fatty acid desaturase type 1 family. DEGS subfamily.
Family:
  • Belongs to the fatty acid desaturase type 1 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 CatalyticActivity:
A dihydroceramide + 2 ferrocytochrome b5 + O(2) + 2 H(+) = a (4R)-4-hydroxysphinganine ceramide + 2 ferricytochrome b5 + H(2)O.
UniProtKB/Swiss-Prot CatalyticActivity:
A dihydroceramide + 2 ferrocytochrome b5 + O(2) + 2 H(+) = a (4E)-sphing-4-enine ceramide + 2 ferricytochrome b5 + 2 H(2)O.
UniProtKB/Swiss-Prot Function:
Bifunctional enzyme which acts as both a sphingolipid delta(4)-desaturase and a sphingolipid C4-monooxygenase.
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 TAS --
genes like me logo Genes that share ontologies with DEGS2: view
genes like me logo Genes that share phenotypes with DEGS2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for DEGS2

CRISPR Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets 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

COMPARTMENTS
Jensen Localization Image for DEGS2 Gene COMPARTMENTS Subcellular localization image for DEGS2 gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 3
extracellular 2
golgi apparatus 1

No data available for Gene Ontology (GO) - Cellular Components for DEGS2 Gene

Pathways & Interactions 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 IEA --
GO:0030148 sphingolipid biosynthetic process IEA,TAS --
GO:0046513 ceramide biosynthetic process IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with DEGS2: view

No data available for SIGNOR curated interactions for DEGS2 Gene

Drugs & Compounds for DEGS2 Gene

(1) Additional Compounds for DEGS2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dihydroceramide
  • N-Acylsphinganine
  • N-[(2S,3R)-1,3-Dihydroxyoctadecan-2-yl]formamide
genes like me logo Genes that share compounds with DEGS2: view

Transcripts for DEGS2 Gene

mRNA/cDNA for DEGS2 Gene

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

Unigene Clusters for DEGS2 Gene

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

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

No ASD Table

Relevant External Links for DEGS2 Gene

GeneLoc Exon Structure for
DEGS2
ECgene alternative splicing isoforms for
DEGS2

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) (x8.1), Skin - Not Sun Exposed (Suprapubic) (x7.2), and Esophagus - Mucosa (x6.1).

Protein differential expression in normal tissues from HIPED for DEGS2 Gene

This gene is overexpressed in Breast (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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

Q6QHC5-DEGS2_HUMAN
Tissue specificity: Highly expressed in skin, intestine and kidney.
genes like me logo Genes that share expression patterns with DEGS2: view

Protein tissue co-expression partners for DEGS2 Gene

Primer 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
cow
(Bos Taurus)
Mammalia DEGS2 35
  • 88.96 (n)
  • 86.69 (a)
DEGS2 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DEGS2 35
  • 91.12 (n)
  • 91.02 (a)
DEGS2 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Degs2 35
  • 82.46 (n)
  • 86.38 (a)
Degs2 16
Degs2 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DEGS2 35
  • 98.97 (n)
  • 99.38 (a)
DEGS2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Degs2 35
  • 84.11 (n)
  • 86.69 (a)
oppossum
(Monodelphis domestica)
Mammalia DEGS2 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DEGS2 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves DEGS2 35
  • 68.32 (n)
  • 74.53 (a)
DEGS2 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DEGS2 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia degs2 35
  • 65.92 (n)
  • 72.29 (a)
MGC75791 35
zebrafish
(Danio rerio)
Actinopterygii degs2 35
  • 70.62 (n)
  • 73.75 (a)
Dr.17314 35
degs2 36
  • 73 (a)
OneToOne
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)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ttm-5 35
  • 53.58 (n)
  • 54.21 (a)
F33D4.4 36
  • 44 (a)
ManyToMany
ttm-5 36
  • 48 (a)
ManyToMany
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)
rice
(Oryza sativa)
Liliopsida Os02g0639600 35
  • 54.97 (n)
  • 48.52 (a)
wheat
(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)
OneToMany
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

ENSEMBL:
Gene Tree for DEGS2 (if available)
TreeFam:
Gene Tree for DEGS2 (if available)

Paralogs for DEGS2 Gene

Paralogs for DEGS2 Gene

(1) 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
rs4905937 - 100,149,624(+) GCAGG(C/T)CAGCA reference, missense
rs7157599 - 100,159,565(+) AGTCG(C/T)TGCGG intron-variant, reference, missense
rs2895845 -- 100,152,137(+) CAGGA(A/G)CCATT intron-variant
rs2895857 -- 100,160,349(+) ATCCA(A/C)TAGAA intron-variant, upstream-variant-2KB
rs8006247 -- 100,147,986(+) GTGAA(A/G)TTCAA 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

Variation tolerance for DEGS2 Gene

Residual Variation Intolerance Score: 45% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.38; 77.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DEGS2 Gene

Human Gene Mutation Database (HGMD)
DEGS2

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)
DEGS2
Human Genome Epidemiology (HuGE) Navigator
DEGS2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEGS2

No disorders were found for DEGS2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot 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 67
  2. DEGS2 polymorphism associated with cognition in schizophrenia is associated with gene expression in brain. (PMID: 25871975) Ohi K. … Weinberger D.R. (Transl Psychiatry 2015) 3
  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
  4. Dihydroceramide-based response to hypoxia. (PMID: 21914808) Devlin C.M. … Petrache I. (J. Biol. Chem. 2011) 3
  5. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M. … Tokunaga K. (Hum. Genet. 2010) 3

Products for DEGS2 Gene

Sources for DEGS2 Gene

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