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

Gene ID: 123099, updated on 1-Jun-2020

Summary

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
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

Genomic context

See DEGS2 in Genome Data Viewer
Location:
14q32.2
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (100143957..100166886, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (100612753..100626012, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene Enah/Vasp-like Neighboring gene microRNA 151b Neighboring gene microRNA 342 Neighboring gene YY1 transcription factor Neighboring gene solute carrier family 25 member 29 Neighboring gene microRNA 6764

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
sphingolipid delta-4 desaturase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sphingosine hydroxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sphingosine hydroxylase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
ceramide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
sphinganine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sphinganine metabolic process IEA
Inferred from Electronic Annotation
more info
 
sphingolipid biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_206918.3NP_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
    Q6QHC5
    Related
    ENSP00000307126.5, ENST00000305631.7
    Conserved Domains (3) summary
    PLN02579
    Location:9314
    PLN02579; sphingolipid delta-4 desaturase
    cd03508
    Location:26314
    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:642
    Lipid_DES; Sphingolipid Delta4-desaturase (DES)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006720043.3XP_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:1278
    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:32258
    FA_desaturase; Fatty acid desaturase
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