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    DEGS2 delta 4-desaturase, sphingolipid 2 [ Homo sapiens (human) ]

    Gene ID: 123099, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DEGS2provided by HGNC
    Official Full Name
    delta 4-desaturase, sphingolipid 2provided by HGNC
    Primary source
    HGNC:HGNC:20113
    See related
    Ensembl:ENSG00000168350 MIM:610862; AllianceGenome:HGNC:20113
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DES2; FADS8; C14orf66
    Summary
    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]
    Expression
    Biased expression in small intestine (RPKM 14.4), duodenum (RPKM 11.1) and 13 other tissues See more
    Orthologs
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    Genomic context

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    See DEGS2 in Genome Data Viewer
    Location:
    14q32.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (100143957..100166886, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (94377005..94399934, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (100610294..100625982, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene Enah/Vasp-like Neighboring gene uncharacterized LOC124903381 Neighboring gene microRNA 342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100604691-100605396 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100605397-100606101 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100611023-100611523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9025 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100613080-100613600 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100613601-100614119 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6073 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6074 Neighboring gene uncharacterized LOC124903380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100632407-100632908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100632909-100633408 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6075 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6076 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6077 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:100680080-100680580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100684247-100684748 Neighboring gene Sharpr-MPRA regulatory region 8458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100698662-100699162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100699163-100699663 Neighboring gene YY1 divergent transcript Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:100704543-100705395 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6081 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9030 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6083 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:100711928-100712136 Neighboring gene YY1 transcription factor Neighboring gene microRNA 6764

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. DEGS2 polymorphism associated with cognition in schizophrenia is associated with gene expression in brain. Ohi K, et al. Transl Psychiatry, 2015 Apr 14. PMID 25871975, Free PMC Article
    2. Identification of the human sphingolipid C4-hydroxylase, hDES2, and its up-regulation during keratinocyte differentiation. Mizutani Y, et al. FEBS Lett, 2004 Apr 9. PMID 15063729
    3. 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
    4. Dihydroceramide-based response to hypoxia. Devlin CM, et al. J Biol Chem, 2011 Nov 4. PMID 21914808, Free PMC Article
    5. GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. Aouizerat BE, et al. BMC Cardiovasc Disord, 2011 Jun 10. PMID 21658281, Free PMC Article

    See all (10) 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. Findings demonstrate that a SNP showing genome-wide association study significant association with cognition in schizophrenia is also associated with regulation of DEGS2 expression, implicating a molecular mechanism for the clinical association.
      Title: DEGS2 polymorphism associated with cognition in schizophrenia is associated with gene expression in brain.
    3. overexpression of DEGS1 or DEGS2 attenuates the DHC accumulation and increased cell proliferation during hypoxia
      Title: Dihydroceramide-based response to hypoxia.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
    5. DES2 was identified and its up-regulation followed during keratinocyte differentiation.
      Title: Identification of the human sphingolipid C4-hydroxylase, hDES2, and its up-regulation during keratinocyte differentiation.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 sphingosine hydroxylase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in ceramide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sphinganine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sphingolipid biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    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
    dihydroceramide desaturase 2
    sphingolipid 4-desaturase
    sphingolipid C4-hydroxylase/delta 4-desaturase
    sphingolipid C4-monooxygenase
    sphingolipid delta 4 desaturase/C-4 hydroxylase
    sphingolipid delta(4)-desaturase 2
    sphingolipid delta(4)-desaturase/C4-hydroxylase DES2
    NP_996801.2
    XP_006720106.1
    XP_054231403.1

    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_206918.3 → NP_996801.2  sphingolipid delta(4)-desaturase/C4-monooxygenase DES2

      See identical proteins and their annotated locations for NP_996801.2

      Status: REVIEWED

      Source sequence(s)
      AI380009, AL133523, AY541700, BC063598, BM789564
      Consensus CDS
      CCDS9956.1
      UniProtKB/Swiss-Prot
      Q6P492, Q6QHC5
      Related
      ENSP00000307126.5, ENST00000305631.7
      Conserved Domains (2) summary
      cd03508
      Location:26 → 314
      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:6 → 42
      Lipid_DES; Sphingolipid Delta4-desaturase (DES)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      100143957..100166886 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006720043.4 → XP_006720106.1  sphingolipid delta(4)-desaturase/C4-monooxygenase DES2 isoform X1

      See identical proteins and their annotated locations for XP_006720106.1

      Conserved Domains (2) summary
      cd03508
      Location:1 → 278
      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 ...
      pfam00487
      Location:32 → 258
      FA_desaturase; Fatty acid desaturase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      94377005..94399934 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375428.1 → XP_054231403.1  sphingolipid delta(4)-desaturase/C4-monooxygenase DES2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6QHC5.2 GenPept UniProtKB/Swiss-Prot:Q6QHC5

    Gene LinkOut

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

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