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Degs2 delta 4-desaturase, sphingolipid 2 [ Mus musculus (house mouse) ]

Gene ID: 70059, updated on 5-Mar-2024

Summary

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Official Symbol
Degs2provided by MGI
Official Full Name
delta 4-desaturase, sphingolipid 2provided by MGI
Primary source
MGI:MGI:1917309
See related
Ensembl:ENSMUSG00000021263 AllianceGenome:MGI:1917309
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
DES2; 2210008A03Rik
Summary
Enables sphingolipid delta-4 desaturase activity and sphingosine hydroxylase activity. Acts upstream of or within ceramide biosynthetic process and sphinganine metabolic process. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be integral component of membrane. Is expressed in stomach. Orthologous to human DEGS2 (delta 4-desaturase, sphingolipid 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in large intestine adult (RPKM 53.1), duodenum adult (RPKM 52.2) and 20 other tissues See more
Orthologs
human all
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Genomic context

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See Degs2 in Genome Data Viewer
Location:
12 F1; 12 59.46 cM
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (108653051..108668561, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (108686792..108702306, complement)

Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene Ena-vasodilator stimulated phosphoprotein Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:109873778-109874013 Neighboring gene predicted gene, 53766 Neighboring gene microRNA 342 Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:109924618-109924819 Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:109924858-109925011 Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:109939490-109939738 Neighboring gene predicted gene, 33467 Neighboring gene STARR-seq mESC enhancer starr_33246 Neighboring gene predicted gene, 40572 Neighboring gene STARR-seq mESC enhancer starr_33247 Neighboring gene STARR-positive B cell enhancer ABC_E1156 Neighboring gene predicted gene, 33628

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. DES2 protein is responsible for phytoceramide biosynthesis in the mouse small intestine. Omae F, et al. Biochem J, 2004 May 1. PMID 14731113, Free PMC Article
  2. Bifunctional DEGS2 has higher hydroxylase activity toward substrates with very-long-chain fatty acids in the production of phytosphingosine ceramides. Ota A, et al. J Biol Chem, 2023 Apr. PMID 36907437, Free PMC Article
  3. Identification of an essential sequence for dihydroceramide C-4 hydroxylase activity of mouse DES2. Omae F, et al. FEBS Lett, 2004 Oct 8. PMID 15474011
  4. Dihydroceramide:sphinganine C-4-hydroxylation requires Des2 hydroxylase and the membrane form of cytochrome b5. Enomoto A, et al. Biochem J, 2006 Jul 15. PMID 16571104, Free PMC Article
  5. Dihydroceramide-based response to hypoxia. Devlin CM, et al. J Biol Chem, 2011 Nov 4. PMID 21914808, Free PMC Article

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Bifunctional DEGS2 has higher hydroxylase activity toward substrates with very-long-chain fatty acids in the production of phytosphingosine ceramides.
    Title: Bifunctional DEGS2 has higher hydroxylase activity toward substrates with very-long-chain fatty acids in the production of phytosphingosine ceramides.
  2. overexpression of DEGS1 or DEGS2 attenuates the DHC accumulation and increased cell proliferation during hypoxia
    Title: Dihydroceramide-based response to hypoxia.
  3. DES2 is the dihydroceramide C-4 hydroxylase responsible for the biosynthesis of enriched phytosphingoglycolipids in the microvillous membranes of intestinal epithelial cells
    Title: DES2 protein is responsible for phytoceramide biosynthesis in the mouse small intestine.
  4. the hydroxylation of dihydroceramide: sphinganine C-4 requires complex formation between Des2 and mb5 via their membrane-spanning domains and electron transfer from NADH to the substrate via the reduction of mb5 by b5R
    Title: Dihydroceramide:sphinganine C-4-hydroxylation requires Des2 hydroxylase and the membrane form of cytochrome b5.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (1)  1 citation
  • Endonuclease-mediated (3) 

Pathways from PubChem

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General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
  
enables sphingolipid C4-monooxygenase activity IEA
Inferred from Electronic Annotation
more info
  
enables sphingolipid delta-4 desaturase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables sphingolipid delta-4 desaturase activity IGI
Inferred from Genetic Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in ceramide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in sphinganine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within sphinganine metabolic process IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within sphingolipid biosynthetic process IGI
Inferred from Genetic Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
sphingolipid delta(4)-desaturase/C4-monooxygenase DES2
Names
degenerative spermatocyte homolog 2, lipid desaturase
sphingolipid 4-desaturase
sphingolipid C4-monooxygenase
sphingolipid delta 4 desaturase/C-4 hydroxylase
sphingolipid delta(4)-desaturase/C4-hydroxylase DES2
NP_001164473.1
NP_081575.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001171002.1 → NP_001164473.1  sphingolipid delta(4)-desaturase/C4-monooxygenase DES2 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an alternate 3' exon, as compared to variant 1. The resulting isoform (2) is shorter and has a different C-terminus, as compared to isoform 1.
    Source sequence(s)
    AC152061, AK008666, AK162979
    Consensus CDS
    CCDS49170.1
    UniProtKB/Swiss-Prot
    Q8R2F2
    Related
    ENSMUSP00000125891.2, ENSMUST00000167978.9
    Conserved Domains (3) summary
    pfam00487
    Location:68 → 274
    FA_desaturase; Fatty acid desaturase
    pfam08557
    Location:7 → 42
    Lipid_DES; Sphingolipid Delta4-desaturase (DES)
    cl00615
    Location:26 → 275
    Membrane-FADS-like; The membrane fatty acid desaturase (Membrane_FADS)-like CD includes membrane FADSs, alkane hydroxylases, beta carotene ketolases (CrtW-like), hydroxylases (CrtR-like), and other related proteins. They are present in all groups of organisms with the ...

  2. NM_027299.5 → NP_081575.2  sphingolipid delta(4)-desaturase/C4-monooxygenase DES2 isoform 1

    See identical proteins and their annotated locations for NP_081575.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AK008666, AK162979, BU757432
    Consensus CDS
    CCDS26162.1
    UniProtKB/Swiss-Prot
    Q3TR85, Q78JJ1, Q8R2F2
    Related
    ENSMUSP00000021691.5, ENSMUST00000021691.6
    Conserved Domains (3) summary
    PLN02579
    Location:9 → 315
    PLN02579; sphingolipid delta-4 desaturase
    cd03508
    Location:26 → 315
    Delta4-sphingolipid-FADS-like; The Delta4-sphingolipid Fatty Acid Desaturase (Delta4-sphingolipid-FADS)-like CD includes the integral-membrane enzymes, dihydroceramide Delta-4 desaturase, involved in the synthesis of sphingosine; and the human membrane fatty acid (lipid) desaturase ...
    pfam08557
    Location:7 → 42
    Lipid_DES; Sphingolipid Delta4-desaturase (DES)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000078.7 Reference GRCm39 C57BL/6J

    Range
    108653051..108668561 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8R2F2.1 GenPept UniProtKB/Swiss-Prot:Q8R2F2

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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