Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DEGS2 Gene

protein-coding   GIFtS: 50
GCID: GC14M100612

delta(4)-desaturase, sphingolipid 2

(Previous names: chromosome 14 open reading frame 66, degenerative spermatocyte...)
(Previous symbol: C14orf66)
 Explore 3 diseases affiliated with
DEGS2 via our new
 Human Malady Compendium 
Biological research products
for DEGS2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Delta(4)-Desaturase, Sphingolipid 21 2     Sphingolipid C4-Hydroxylase/Delta 4-Desaturase2
C14orf661 2 3     Sphingolipid Delta 4 Desaturase/C-4 Hydroxylase2
DES21 2 5     Sphingolipid Delta(4)-Desaturase 22
FADS81 2     Sphingolipid Delta(4)-Desaturase/C4-Hydroxylase DES22
Chromosome 14 Open Reading Frame 661     EC 1.-.-.-3
Degenerative Spermatocyte Homolog 2, Lipid Desaturase (Drosophila)1     EC 1.14.-.-3
Degenerative Spermatocyte Homolog 2, Lipid Desaturase2     Degenerative Spermatocyte Homolog 23

External Ids:    HGNC: 201131   Entrez Gene: 1230992   Ensembl: ENSG000001683507   OMIM: 6108625   UniProtKB: Q6QHC53   

Export aliases for DEGS2 gene to outside databases

Previous GC identifers: GC14M099683 GC14M080795


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DEGS2:
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)

UniProtKB/Swiss-Prot: DEGS2_HUMAN, Q6QHC5
Function: Bifunctional enzyme which acts as both a sphingolipid delta(4)-desaturase and a sphingolipid C4-hydroxylase
(By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DEGS2 gene promoter:
         HFH-3   Brachyury   NCX/Ncx   Pax-2   AP-4   Pax-2a   GATA-1   FOXI1   Pax-2b   FOXJ2 (long isoform)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEGS2 promoter sequence
   Search SABiosciences Chromatin IP Primers for DEGS2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEGS2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q32.2   Ensembl cytogenetic band:  14q32.2   HGNC cytogenetic band: 14q32.2

DEGS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEGS2 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M100612:  view genomic region     (about GC identifiers)

Start:
100,612,753 bp from pter      End:
100,626,500 bp from pter
Size:
13,748 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DEGS2_HUMAN, Q6QHC5 (See protein sequence)
Recommended Name: Sphingolipid delta(4)-desaturase/C4-hydroxylase DES2  
Size: 323 amino acids; 37197 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity)
Secondary accessions: Q6P492

Explore the universe of human proteins at neXtProt for DEGS2: NX_Q6QHC5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6QHC5

  • DEGS2 Protein expression data from MOPED and PaxDb:    About this image 
    DEGS2 Protein Expression
    REFSEQ proteins: NP_996801.2  
    ENSEMBL proteins: 
     ENSP00000307126   ENSP00000450637  
    Reactome Protein details: Q6QHC5
    Human Recombinant Protein Products for DEGS2: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: DEGS2
    OriGene Custom Protein Services for DEGS2 
    GenScript Custom Purified and Recombinant Proteins Services for DEGS2
    Novus Biologicals DEGS2 Protein
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for DEGS2

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral to membrane IEA--

    DEGS2 for ontologies           About GeneDecksing



    DEGS2 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for DEGS2 
    GenScript Custom Superior Antibodies Services for DEGS2
    Novus Biologicals DEGS2 Antibody
    Abcam antibodies for DEGS2 
    Uscn Antibodies for DEGS2
    ThermoFisher Antibodies for DEGS2

    Assay Products for DEGS2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DEGS2
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for DEGS2


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    DEGS2 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR013866 Sphingolipid_d4-desaturase_N
     IPR005804 Fatty_acid_desaturase-1
     IPR011388 Sphingolipid_d4-desaturase

    Graphical View of Domain Structure for InterPro Entry Q6QHC5

    ProtoNet protein and cluster: Q6QHC5

    UniProtKB/Swiss-Prot: DEGS2_HUMAN, Q6QHC5
    Similarity: Belongs to the fatty acid desaturase family. DEGS subfamily


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DEGS2_HUMAN, Q6QHC5
    Function: Bifunctional enzyme which acts as both a sphingolipid delta(4)-desaturase and a sphingolipid C4-hydroxylase
    (By similarity)
    Induction: Up-regulated during keratinocyte differentiation. Not expressed at day 0 or day 3 after differentiation,
    detected on day 6 and increases by day 9

         Enzyme Numbers (IUBMB): EC 1.14.-.-1 EC 1.-.-.-1

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000170sphingosine hydroxylase activity IEA--
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
    GO:0042284sphingolipid delta-4 desaturase activity IEA--
         
    DEGS2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for DEGS2 

    miRNA
    Products:
        
    OriGene 3'-UTR Clone: DEGS2
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DEGS2
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate DEGS2
    SwitchGear 3'UTR luciferase reporter plasmidDEGS2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DEGS2 (see all 7)
    OriGene shRNA RFP: DEGS2
    OriGene siRNA: DEGS2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DEGS2
    Sirion Biotech Custom design and validation of potent shRNA sequences against DEGS2 

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for DEGS2
    Sirion Biotech Customized adenovirus for overexpression of DEGS2 
    Sirion Biotech Customized adenovirus for potent knockdown of DEGS2

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEGS2 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEGS2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: DEGS2 (NM_206918)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DEGS2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEGS2 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for DEGS2
    Search LifeMap BioReagents cell lines for DEGS2
    Sirion Biotech Customized stable knockdown cell line services for DEGS2 
    Sirion Biotech Customized inducible knockdown cell line services for DEGS2
    Sirion Biotech Customized stable overexpressing cell line services for DEGS2
    Sirion Biotech Customized inducible overexpressing cell line services for DEGS2

    In Situ Assay
    Products:
       

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for DEGS2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Sphingolipid metabolism
    Sphingolipid metabolism1.00
    Sphingolipid de novo biosynthesis0.46
    Sphingolipid metabolism0.54
    2Metabolism
    Metabolism1.00
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.38
    3ceramide biosynthesis
    ceramide biosynthesis1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for DEGS2 
        ceramide biosynthesis

    4        Reactome Pathways for DEGS2
        Sphingolipid metabolism
    Metabolism
    Metabolism of lipids and lipoproteins
    Sphingolipid de novo biosynthesis


    2         Kegg Pathways  (Kegg details for DEGS2):
        Sphingolipid metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: DEGS2_HUMAN, Q6QHC5
    Pathway: Membrane lipid metabolism; sphingolipid biosynthesis


    DEGS2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DEGS2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/22 Interacting proteins for DEGS2 (ENSP000003071264) via UniProtKB, MINT, STRING, and/or I2D (see all 22)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACER1ENSP000003014524STRING: ENSP00000301452
    ASAH1ENSP000003711524STRING: ENSP00000371152
    ASAH2ENSP000003788974STRING: ENSP00000378897
    CERKENSP000002162644STRING: ENSP00000216264
    PPAP2AENSP000002647754STRING: ENSP00000264775
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006633fatty acid biosynthetic process IEA--
    GO:0006644phospholipid metabolic process TAS--
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006667sphinganine metabolic process IEA--
    GO:0030148sphingolipid biosynthetic process TAS--

    DEGS2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DEGS2

    1 HMDB Compound for DEGS2    About this table
    CompoundSynonyms CAS #PubMed Ids
    DihydroceramideN-Acylsphinganine (see all 2)----
    Search CenterWatch for drugs/clinical trials and news about DEGS2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DEGS2 gene: 
    NM_206918.2  

    Unigene Cluster for DEGS2:

    Delta(4)-desaturase, sphingolipid 2
    Hs.159643  [show with all ESTs]
    Unigene Representative Sequence: BC063598
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000305631(uc001ygx.2) ENST00000553834 ENST00000557117

    miRNA
    Products:
         
    OriGene 3'-UTR Clone: DEGS2
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DEGS2
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate DEGS2
    SwitchGear 3'UTR luciferase reporter plasmidDEGS2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DEGS2 (see all 7)
    OriGene shRNA RFP: DEGS2
    OriGene siRNA: DEGS2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DEGS2
    Sirion Biotech Custom design and validation of potent shRNA sequences against DEGS2 
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEGS2 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEGS2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: DEGS2 (NM_206918)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DEGS2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEGS2 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DEGS2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DEGS2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEGS2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEGS2

    Additional cDNA sequence: 

    AY541700.1 BC063598.1 

    2 DOTS entries:

    DT.97836458  DT.91746859 

    19 AceView cDNA sequences:

    BM817460 BG739820 BM790771 BQ129385 CA314430 BM789564 CA488047 CB306252 
    BG698427 AY541700 CA488627 BE562826 NM_206918 CB242859 BC063598 BM821335 
    BE378727 AA282457 BG742605 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DEGS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACCTGGGTGC
    DEGS2 Expression
    About this image

    DEGS2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainBlood Brain BarrierAdult Endothelial CellsBlood Brain Barrier, Endothelium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See DEGS2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DEGS2

    SOURCE GeneReport for Unigene cluster: Hs.159643

    UniProtKB/Swiss-Prot: DEGS2_HUMAN, Q6QHC5
    Tissue specificity: Highly expressed in skin, intestine and kidney

        SABiosciences Custom PCR Arrays for DEGS2
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DEGS2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DEGS2
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEGS2
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEGS2
    In Situ
    Assay Products:
     

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for DEGS2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DEGS2 gene from 10/31 species (see all 31)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Degs21 , 5 degenerative spermatocyte homolog 2 (Drosophila), lipid more1, 5 82.46(n)1
    86.38(a)1
      12 (59.46 cM)5
    700591  NM_027299.51  NP_081575.21 
     1086867925 
    chicken
    (Gallus gallus)
    Aves DEGS21 degenerative spermatocyte homolog 2, lipid desaturase more 68.43(n)
    74.77(a)
      423454  XM_421364.3  XP_421364.2 
    lizard
    (Anolis carolinensis)
    Reptilia DEGS26
    --
    71(a)
    1 ↔ 1
    GL344859.1(4033-15409)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia MGC757912 hypothetical protein MGC75791 72.17(n)    BC061313.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.173142 Danio rerio, Similar to RIKEN cDNA 2210008A03 gene, more 75(n)    BC045962.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ifc1 infertile crescent 63.3(n)
    57.73(a)
      33836  NM_057246.4  NP_476594.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ttm-51 Protein TTM-5 53.58(n)
    54.21(a)
      173327  NM_061148.2  NP_493549.1 
    A. gossypii yeast
    (Ashbya gossypii)
    Saccharomycetes AGOS_AGR025W1 AGR025Wp 56.17(n)
    45.25(a)
      4622989  NM_211752.1  NP_986690.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons DES-1-LIKE1 sphingolipid delta-4 desaturase 51.04(n)
    46.56(a)
      825832  NM_116731.3  NP_192402.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g06396001 hypothetical protein 54.97(n)
    48.52(a)
      4330104  NM_001054075.1  NP_001047540.1 


    ENSEMBL Gene Tree for DEGS2 (if available)
    TreeFam Gene Tree for DEGS2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DEGS2 gene
    DEGS12  
    1 SIMAP similar gene for DEGS2 using alignment to 2 protein entries:     DEGS2_HUMAN (see all proteins):
    DEGS1

    DEGS2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/288 NCBI SNPs in DEGS2 are shown (see all 288    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1818136381,2
    --100612306(+) GTGGGA/GGATAG 1 -- ds50010--------
    rs1167240271,2
    F--100612332(+) AGGGAC/TGCTCC 1 -- ds50011Minor allele frequency- T:0.05WA 118
    rs1507145031,2
    --100612652(+) CGAAGC/TGGCAC 1 -- ds50010--------
    rs2014123531,2
    --100612673(+) AGCTC-/CACTCAT 1 -- ds50010--------
    rs1863306881,2
    --100612746(+) GCACAA/GTCCAT 1 -- ds50010--------
    rs1380410571,2
    --100612798(+) ACCCCA/GGAGAA 1 -- ut310--------
    rs1114442261,2
    F--100612806(+) GAAGTG/CAGCTC 1 -- ut311Minor allele frequency- C:0.50CSA 4
    rs1164845201,2
    C,F--100612970(+) GCTGCG/ACGGGA 1 -- ut311Minor allele frequency- A:0.13WA 118
    rs1154422411,2
    C,F--100613058(+) GGGGCC/TGATGG 1 -- ut311Minor allele frequency- T:0.03WA 118
    rs22363171,2
    C,F,H--100613093(+) CAGCCC/TGGGCT 1 -- ut3120Minor allele frequency- T:0.14EA NS NA WA EU 4190

    HapMap Linkage Disequilibrium report for DEGS2 (100612753 - 100626500 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for DEGS2: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DEGS2
    DNA2.0 Custom Variant and Variant Library Synthesis for DEGS2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    DEGS2 for disorders           About GeneDecksing

    OMIM gene information: 610862    OMIM disorders: --

    3 diseases for DEGS2:    About MalaCards
    carotid stenosis    infertility    hypoxia

    Human Genome Epidemiology (HuGE) Navigator: DEGS2 (1 document)

    Export disorders for DEGS2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DEGS2 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with DEGS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of the human sphingolipid C4-hydroxylase, hDES2, and its up-regulation during keratinocyte differentiation. (PubMed id 15063729)1, 2, 9 Mizutani Y.... Igarashi Y. (2004)
    2. Dihydroceramide-based response to hypoxia. (PubMed id 21914808)1 Devlin C.M....Petrache I. (2011)
    3. GWAS for discovery and replication of genetic loci as sociated with sudden cardiac arrest in patients with coronary artery disease. (PubMed id 21658281)1 Aouizerat B.E....Tseng Z.H. (2011)
    4. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1 Shimada M....Tokunaga K. (2010)
    5. Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H....Kim N.S. (2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    7. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)2 Heilig R.... Weissenbach J. (2003)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 123099 HGNC: 20113 AceView: C14orf66 Ensembl:ENSG00000168350 euGenes: HUgn123099
    ECgene: DEGS2 Kegg: 123099 H-InvDB: DEGS2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DEGS2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DEGS2 gene:
    Search GeneIP for patents involving DEGS2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for DEGS2  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DEGS2   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DEGS2  
     OriGene Protein Over-expression Lysate for DEGS2   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for DEGS2   OriGene 3'-UTR Clone for DEGS2  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEGS2   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEGS2  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for DEGS2   OriGene Custom Protein Services for DEGS2  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DEGS2
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DEGS2
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEGS2
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DEGS2
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEGS2
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEGS2
     GenScript Custom Purified and Recombinant Proteins Services for DEGS2 GenScript cDNA clones with any tag delivered in your preferred vector for DEGS2
     GenScript Custom Assay Services for DEGS2 GenScript Custom Superior Antibodies Services for DEGS2
     GenScript Custom overexpressing Cell Line Services for DEGS2 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in DEGS2 promoter
     Search Chromatin IP Primers for DEGS2
     RT2 qPCR Primer Assay in human, mouse, rat DEGS2
     Search GNC Networks for DEGS2
     SABiosciences Custom PCR Arrays for DEGS2
     Search Tocris compounds for DEGS2
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     DEGS2 antibodies
     DEGS2 proteins
     Antibodies for DEGS2
     See all of Abcam's Antibodies, Kits and Proteins for DEGS2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     DEGS2 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for DEGS2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for DEGS2
     SwitchGear 3'UTR luciferase reporter plasmids for DEGS2
     SwitchGear Promoter luciferase reporter plasmids for DEGS2
     ThermoFisher Antibodies for DEGS2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEGS2
     inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for DEGS2
    Sirion Biotech Customized:
     stable knockdown cell line services for DEGS2
     inducible knockdown cell line services for DEGS2
     design and validation of potent shRNA sequences against DEGS2
     adenovirus for potent knockdown of DEGS2
     adenovirus for overexpression of DEGS2
     stable overexpressing cell line services for DEGS2
     inducible overexpressing cell line services for DEGS2
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      DEGS2 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4