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

    Gene ID: 70059, updated on 21-Apr-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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    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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