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DEGS2 (delta 4-desaturase, sphingolipid 2)

Identity

Alias_namesC14orf66
chromosome 14 open reading frame 66
degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)
Alias_symbol (synonym)DES2
FADS8
Other alias
HGNC (Hugo) DEGS2
LocusID (NCBI) 123099
Atlas_Id 56355
Location 14q32.2  [Link to chromosome band 14q32]
Location_base_pair Starts at 100146416 and ends at 100159675 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)DEGS2   20113
Cards
Entrez_Gene (NCBI)DEGS2  123099  delta 4-desaturase, sphingolipid 2
AliasesC14orf66; DES2; FADS8
GeneCards (Weizmann)DEGS2
Ensembl hg19 (Hinxton)ENSG00000168350 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168350 [Gene_View]  chr14:100146416-100159675 [Contig_View]  DEGS2 [Vega]
ICGC DataPortalENSG00000168350
TCGA cBioPortalDEGS2
AceView (NCBI)DEGS2
Genatlas (Paris)DEGS2
WikiGenes123099
SOURCE (Princeton)DEGS2
Genetics Home Reference (NIH)DEGS2
Genomic and cartography
GoldenPath hg38 (UCSC)DEGS2  -     chr14:100146416-100159675 -  14q32.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DEGS2  -     14q32.2   [Description]    (hg19-Feb_2009)
EnsemblDEGS2 - 14q32.2 [CytoView hg19]  DEGS2 - 14q32.2 [CytoView hg38]
Mapping of homologs : NCBIDEGS2 [Mapview hg19]  DEGS2 [Mapview hg38]
OMIM610862   
Gene and transcription
Genbank (Entrez)AI380009 AY541700 BC063598 BM789564
RefSeq transcript (Entrez)NM_206918
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DEGS2
Cluster EST : UnigeneHs.159643 [ NCBI ]
CGAP (NCI)Hs.159643
Alternative Splicing GalleryENSG00000168350
Gene ExpressionDEGS2 [ NCBI-GEO ]   DEGS2 [ EBI - ARRAY_EXPRESS ]   DEGS2 [ SEEK ]   DEGS2 [ MEM ]
Gene Expression Viewer (FireBrowse)DEGS2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)123099
GTEX Portal (Tissue expression)DEGS2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6QHC5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6QHC5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6QHC5
Splice isoforms : SwissVarQ6QHC5
PhosPhoSitePlusQ6QHC5
Domains : Interpro (EBI)DES1/DES2    FA_desaturase_dom    Sphingolipid_d4-desaturase_N   
Domain families : Pfam (Sanger)FA_desaturase (PF00487)    Lipid_DES (PF08557)   
Domain families : Pfam (NCBI)pfam00487    pfam08557   
Domain families : Smart (EMBL)Lipid_DES (SM01269)  
Conserved Domain (NCBI)DEGS2
DMDM Disease mutations123099
Blocks (Seattle)DEGS2
SuperfamilyQ6QHC5
Human Protein AtlasENSG00000168350
Peptide AtlasQ6QHC5
HPRD13134
IPIIPI00410145   IPI01026308   
Protein Interaction databases
DIP (DOE-UCLA)Q6QHC5
IntAct (EBI)Q6QHC5
FunCoupENSG00000168350
BioGRIDDEGS2
STRING (EMBL)DEGS2
ZODIACDEGS2
Ontologies - Pathways
QuickGOQ6QHC5
Ontology : AmiGOsphingosine hydroxylase activity  sphingosine hydroxylase activity  endoplasmic reticulum membrane  sphinganine metabolic process  integral component of membrane  sphingolipid biosynthetic process  sphingolipid delta-4 desaturase activity  ceramide biosynthetic process  oxidation-reduction process  
Ontology : EGO-EBIsphingosine hydroxylase activity  sphingosine hydroxylase activity  endoplasmic reticulum membrane  sphinganine metabolic process  integral component of membrane  sphingolipid biosynthetic process  sphingolipid delta-4 desaturase activity  ceramide biosynthetic process  oxidation-reduction process  
Pathways : KEGGSphingolipid metabolism   
NDEx NetworkDEGS2
Atlas of Cancer Signalling NetworkDEGS2
Wikipedia pathwaysDEGS2
Orthology - Evolution
OrthoDB123099
GeneTree (enSembl)ENSG00000168350
Phylogenetic Trees/Animal Genes : TreeFamDEGS2
HOVERGENQ6QHC5
HOGENOMQ6QHC5
Homologs : HomoloGeneDEGS2
Homology/Alignments : Family Browser (UCSC)DEGS2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDEGS2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DEGS2
dbVarDEGS2
ClinVarDEGS2
1000_GenomesDEGS2 
Exome Variant ServerDEGS2
ExAC (Exome Aggregation Consortium)DEGS2 (select the gene name)
Genetic variants : HAPMAP123099
Genomic Variants (DGV)DEGS2 [DGVbeta]
DECIPHERDEGS2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDEGS2 
Mutations
ICGC Data PortalDEGS2 
TCGA Data PortalDEGS2 
Broad Tumor PortalDEGS2
OASIS PortalDEGS2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDEGS2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDEGS2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DEGS2
DgiDB (Drug Gene Interaction Database)DEGS2
DoCM (Curated mutations)DEGS2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DEGS2 (select a term)
intoGenDEGS2
Cancer3DDEGS2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610862   
Orphanet
MedgenDEGS2
Genetic Testing Registry DEGS2
NextProtQ6QHC5 [Medical]
TSGene123099
GENETestsDEGS2
Huge Navigator DEGS2 [HugePedia]
snp3D : Map Gene to Disease123099
BioCentury BCIQDEGS2
ClinGenDEGS2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD123099
Chemical/Pharm GKB GenePA134973300
Clinical trialDEGS2
Miscellaneous
canSAR (ICR)DEGS2 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDEGS2
EVEXDEGS2
GoPubMedDEGS2
iHOPDEGS2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:13:05 CEST 2017

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