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] See more...

Aliases for DEGS2 Gene

Aliases for DEGS2 Gene

  • Delta 4-Desaturase, Sphingolipid 2 2 3 5
  • Sphingolipid Delta(4)-Desaturase/C4-Monooxygenase DES2 3 4
  • 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
  • FADS8 2 3
  • DES2 2 3
  • Degenerative Spermatocyte Homolog 2, Lipid Desaturase (Drosophila) 2
  • 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
  • Chromosome 14 Open Reading Frame 66 2
  • Degenerative Spermatocyte Homolog 2 4
  • EC 1.14.19.17 4
  • EC 1.14.18.5 4
  • DEGS2 5

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 Sjogren-Larsson Syndrome and Miller-Dieker Lissencephaly Syndrome. Among its related pathways are Sphingolipid metabolism and 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 Summary for DEGS2 Gene

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

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DEGS2 Gene

Genomics for DEGS2 Gene

GeneHancer (GH) Regulatory Elements Pubs

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 1.6 EPDnew Ensembl ENCODE dbSUPER 257.2 +7.5 7459 1.7 ZNF10 ZIC2 ZNF341 KLF9 CTBP1 SP2 SIN3A ZNF189 POLR2A GLIS1 DEGS2 HSALNG0103701 HSALNG0103702 SLC25A29 lnc-DEGS2-6 EVL
GH14J100166 Promoter/Enhancer 1.5 EPDnew FANTOM5 ENCODE dbSUPER 250.7 +0.0 7 0.9 IKZF1 ZNF600 ZNF592 SMAD5 KLF9 PRDM10 SUPT5H SMARCA4 SPI1 ETV1 DEGS2 YY1 HSALNG0103703 EVL
GH14J100165 Enhancer 0.5 dbSUPER 250.7 +1.3 1300 1.1 CTCF ZBTB33 EGR2 ZNF143 ZNF266 ZFHX2 DEGS2 CCNK YY1 SLC25A29 HSALNG0103703 EVL
GH14J100192 Promoter/Enhancer 2 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 13 -26.1 -26113 1.9 SP1 ZNF207 ZNF654 MYC ZNF600 SSRP1 ZNF580 ZNF592 POLR2A BRCA1 lnc-DEGS2-1 DEGS2 YY1 CCNK MIR342 SLC25A29 ENSG00000258581 HSALNG0103710 lnc-DEGS2-3
GH14J100062 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.8 +96.7 96674 15.2 BCLAF1 SP1 ZNF207 MYC IKZF1 ZNF592 POLR2A CEBPA ZNF10 NFIC EVL HHIPL1 MIR342 DEGS2 CYP46A1 VDAC3P1 WARS1 YY1 ENSG00000258560 lnc-EML1-5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DEGS2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DEGS2

Top Transcription factor binding sites by QIAGEN in the DEGS2 gene promoter:
  • AP-4
  • Brachyury
  • FOXI1
  • FOXJ2 (long isoform)
  • GATA-1
  • HFH-3
  • NCX
  • Pax-2
  • Pax-2a
  • Pax-2b

Genomic Locations for DEGS2 Gene

Latest Assembly
chr14:100,143,957-100,166,886
(GRCh38/hg38)
Size:
22,930 bases
Orientation:
Minus strand

Previous Assembly
chr14:100,610,294-100,625,982
(GRCh37/hg19 by Entrez Gene)
Size:
15,689 bases
Orientation:
Minus strand

chr14:100,612,756-100,626,500
(GRCh37/hg19 by Ensembl)
Size:
13,745 bases
Orientation:
Minus strand

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

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:
  • Degenerative spermatocyte homolog 2 (DEGS2_HUMAN)

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:
Reaction=2 [Fe(II)-cytochrome b5] + a dihydroceramide + 2 H(+) + O2 = 2 [Fe(III)-cytochrome b5] + a phytoceramide + H2O; Xref=Rhea:RHEA:55808, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:139048, ChEBI:CHEBI:139051; EC=1.14.18.5; Evidence={ECO:0000269|PubMed:15063729};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 [Fe(II)-cytochrome b5] + an N-acylsphinganine + 2 H(+) + O2 = 2 [Fe(III)-cytochrome b5] + an N-acylsphing-4-enine + 2 H2O; Xref=Rhea:RHEA:46544, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:31488, ChEBI:CHEBI:52639; EC=1.14.19.17; Evidence={ECO:0000269|PubMed:15063729};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 [Fe(II)-cytochrome b5] + 2 H(+) + N-octanoylsphinganine + O2 = 2 [Fe(III)-cytochrome b5] + H2O + N-octanoyl-4-hydroxysphinganine; Xref=Rhea:RHEA:43116, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:82841, ChEBI:CHEBI:82842; Evidence={ECO:0000269|PubMed:15063729};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 [Fe(II)-cytochrome b5] + an N-acylsphinganine + 2 H(+) + O2 = 2 [Fe(III)-cytochrome b5] + an N-acyl-(4R)-4-hydroxysphinganine + H2O; Xref=Rhea:RHEA:46364, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:31488, ChEBI:CHEBI:31998; EC=1.14.18.5; Evidence={ECO:0000269|PubMed:15063729};.
UniProtKB/Swiss-Prot Induction:
Up-regulated during keratinocyte differentiation. Not expressed at the beginning 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 21873635
genes like me logo Genes that share ontologies with DEGS2: view
genes like me logo Genes that share phenotypes with DEGS2: view

Animal Models for research

  • Taconic Biosciences Mouse Models for DEGS2

Inhibitory RNAs for research

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

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
plasma membrane 3
extracellular 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleoplasm (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 IBA 21873635
GO:0030148 sphingolipid biosynthetic process TAS --
GO:0046513 ceramide biosynthetic process IBA 21873635
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

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

Alternative Splicing Database (ASD) splice patterns (SP) for DEGS2 Gene

No ASD Table

Relevant External Links for DEGS2 Gene

GeneLoc Exon Structure for
DEGS2

Expression for DEGS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for DEGS2 Gene

  • Skin(2.2)
genes like me logo Genes that share expression patterns with DEGS2: view

No data available for 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 29 30
  • 98.97 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DEGS2 29 30
  • 91.12 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DEGS2 29 30
  • 88.96 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Degs2 29
  • 84.11 (n)
Mouse
(Mus musculus)
Mammalia Degs2 29 16 30
  • 82.46 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DEGS2 30
  • 77 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DEGS2 30
  • 68 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DEGS2 29 30
  • 68.32 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DEGS2 30
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia degs2 29
  • 65.92 (n)
MGC75791 29
Zebrafish
(Danio rerio)
Actinopterygii degs2 29 30
  • 70.62 (n)
OneToOne
Dr.17314 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2138 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011402 29
  • 64.23 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta ifc 29 30
  • 63.3 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ttm-5 29 30
  • 53.58 (n)
ManyToMany
F33D4.4 30
  • 44 (a)
ManyToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGR025W 29
  • 56.75 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F18656g 29
  • 47.88 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons DES-1-LIKE 29
  • 51.18 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0639600 29
  • 54.97 (n)
Wheat
(Triticum aestivum)
Liliopsida Ta.10247 29
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 60 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU08927 29
  • 58.71 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dsd1 29
  • 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 Vase (Ciona intestinalis)
  • 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
Alliance of Genome Resources:
Additional Orthologs for DEGS2

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DEGS2 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs140696950 Benign: not provided 100,146,860(-) G/A
NM_206918.3(DEGS2):c.873C>T (p.His291=)
SYNONYMOUS
rs150661877 Benign: not provided 100,149,331(-) G/A
NM_206918.3(DEGS2):c.462C>T (p.Cys154=)
SYNONYMOUS
rs4905937 -- p.Ala57Thr
rs7157599 -- p.Ser8Asn

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DEGS2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
DEGS2

SNP Genotyping and Copy Number Assays for research

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

Disorders for DEGS2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for DEGS2 Gene - From: COP

- 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

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  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 40
  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 40
  4. New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing. (PMID: 25798074) Basei FL … Kobarg J (Proteome science 2015) 3
  5. DEGS2 polymorphism associated with cognition in schizophrenia is associated with gene expression in brain. (PMID: 25871975) Ohi K … Weinberger DR (Translational psychiatry 2015) 3

Products for DEGS2 Gene

Sources for DEGS2 Gene