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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
  • Sphingolipid Delta(4)-Desaturase/C4-Monooxygenase DES2 3
  • 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
  • Degenerative Spermatocyte Homolog 2 4
  • Chromosome 14 Open Reading Frame 66 2
  • 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. Diseases associated with DEGS2 include Dyskinesia Of Esophagus. Among its related pathways are Metabolism and Sphingolipid metabolism. Gene Ontology (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.

Additional gene information for DEGS2 Gene

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

Genomics for DEGS2 Gene

GeneHancer (GH) Regulatory Elements for DEGS2 Gene

Promoters and enhancers for DEGS2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J100158 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 657.2 +7.4 7411 1.6 KLF1 ZNF777 SUZ12 SIN3A ZIC2 ZNF335 ZFHX2 CTBP1 GLIS2 POLR2A DEGS2 SLC25A29 GC14M100159 GC14P100143 GC14P100144
GH14J100165 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650.7 +0.5 539 2.5 HDAC1 NFRKB ZBTB40 EGR1 ZNF143 IKZF2 EGR2 PHF21A SMAD5 ZNF592 DEGS2 GC14M100159 CCNK YY1 DLK1 SLC25A29
GH14J100062 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.8 +96.7 96665 15.2 HDGF PKNOX1 SMAD1 ARNT SIN3A YBX1 IRF4 ZNF766 E2F8 ZNF207 EVL MIR342 DEGS2 VDAC3P1 WARS YY1 ENSG00000258560 GC14M100046
GH14J100192 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 13 -26.2 -26202 1.9 HDGF FOXA2 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 E2F8 GC14M100193 GC14M100192 GC14M100190 CCNK DEGS2 YY1 MIR342 ENSG00000258666 EVL SLC25A29
GH14J100028 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.8 +135.8 135815 5.2 NEUROD1 MZF1 SIN3A FEZF1 RFX5 GLIS2 ZNF366 HSF1 SCRT2 FOS CCNK MIR342 DEGS2 ENSG00000247970 GC14M100036 GC14P100004 EVL
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DEGS2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DEGS2 gene promoter:

Genomic Locations for DEGS2 Gene

Genomic Locations for DEGS2 Gene
chr14:100,143,957-100,166,882
(GRCh38/hg38)
Size:
22,926 bases
Orientation:
Minus strand
chr14:100,612,753-100,626,500
(GRCh37/hg19)

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

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

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

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 Function:
Bifunctional enzyme which acts as both a sphingolipid delta(4)-desaturase and a sphingolipid C4-monooxygenase.
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 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

Phenotypes From GWAS Catalog 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 --
GO:0016491 oxidoreductase activity IEA --
GO:0042284 sphingolipid delta-4 desaturase activity IBA --
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEGS2

Clone 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
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 DEGS2 gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 3
extracellular 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DEGS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DEGS2: view

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:0006667 sphinganine metabolic process IEA --
GO:0030148 sphingolipid biosynthetic process TAS --
GO:0046513 ceramide biosynthetic process IBA,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

(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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEGS2

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for DEGS2 Gene



Protein tissue co-expression partners for DEGS2 Gene

NURSA nuclear receptor signaling pathways regulating expression of DEGS2 Gene:

DEGS2

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

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DEGS2 Gene

Orthologs for DEGS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DEGS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DEGS2 34 33
  • 98.97 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DEGS2 34 33
  • 91.12 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DEGS2 34 33
  • 88.96 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Degs2 33
  • 84.11 (n)
mouse
(Mus musculus)
Mammalia Degs2 16 34 33
  • 82.46 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DEGS2 34
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DEGS2 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves DEGS2 34 33
  • 68.32 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DEGS2 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia degs2 33
  • 65.92 (n)
MGC75791 33
zebrafish
(Danio rerio)
Actinopterygii degs2 34 33
  • 70.62 (n)
OneToOne
Dr.17314 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2138 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011402 33
  • 64.23 (n)
fruit fly
(Drosophila melanogaster)
Insecta ifc 34 33
  • 63.3 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ttm-5 34 33
  • 53.58 (n)
ManyToMany
F33D4.4 34
  • 44 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR025W 33
  • 56.75 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F18656g 33
  • 47.88 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons DES-1-LIKE 33
  • 51.18 (n)
rice
(Oryza sativa)
Liliopsida Os02g0639600 33
  • 54.97 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.10247 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 60 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU08927 33
  • 58.71 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dsd1 33
  • 45.91 (n)
Species where no ortholog for DEGS2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DEGS2: view image

Paralogs for DEGS2 Gene

Paralogs for DEGS2 Gene

(1) SIMAP similar genes for DEGS2 Gene using alignment to 2 proteins:

  • DEGS2_HUMAN
  • G3V2F9_HUMAN
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 Variation AA Info Type
rs1000060117 -- 100,165,324(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000061358 -- 100,151,082(-) G/C intron_variant
rs1000171444 -- 100,147,245(-) G/A intron_variant
rs1000275783 -- 100,154,182(-) T/C intron_variant
rs1000435517 -- 100,149,397(-) G/A coding_sequence_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
dgv1969n100 CNV gain 25217958
esv1000926 CNV deletion 20482838
nsv524413 CNV loss 19592680
nsv526793 CNV loss 19592680
nsv527130 CNV loss 19592680
nsv832874 CNV loss 17160897
nsv952238 CNV deletion 24416366

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)

Additional Variant Information for DEGS2 Gene

Human Gene Mutation Database (HGMD)
DEGS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEGS2

SNP Genotyping and Copy Number Assay Products

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

Disorders for DEGS2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DEGS2 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
dyskinesia of esophagus
  • dyskinesia of oesophagus
- elite association - COSMIC cancer census association via MalaCards
Search DEGS2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DEGS2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DEGS2: view

No data available for 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 letters 2004) 3 4 22 58
  2. GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. (PMID: 21658281) Aouizerat BE … Tseng ZH (BMC cardiovascular disorders 2011) 3 44 58
  3. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M … Tokunaga K (Human genetics 2010) 3 44 58
  4. DEGS2 polymorphism associated with cognition in schizophrenia is associated with gene expression in brain. (PMID: 25871975) Ohi K … Weinberger DR (Translational psychiatry 2015) 3 58
  5. Dihydroceramide-based response to hypoxia. (PMID: 21914808) Devlin CM … Petrache I (The Journal of biological chemistry 2011) 3 58

Products for DEGS2 Gene

Sources for DEGS2 Gene

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