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ELOVL2 (ELOVL fatty acid elongase 2)

Identity

Other aliasSSC2
HGNC (Hugo) ELOVL2
LocusID (NCBI) 54898
Atlas_Id 57022
Location 6p24.2  [Link to chromosome band 6p24]
Location_base_pair Starts at 10980760 and ends at 11044391 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
MAK (6p24.2) / ELOVL2 (6p24.2)

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  MAK/ELOVL2 (6p24)


External links

Nomenclature
HGNC (Hugo)ELOVL2   14416
Cards
Entrez_Gene (NCBI)ELOVL2  54898  ELOVL fatty acid elongase 2
AliasesSSC2
GeneCards (Weizmann)ELOVL2
Ensembl hg19 (Hinxton)ENSG00000197977 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197977 [Gene_View]  ENSG00000197977 [Sequence]  chr6:10980760-11044391 [Contig_View]  ELOVL2 [Vega]
ICGC DataPortalENSG00000197977
TCGA cBioPortalELOVL2
AceView (NCBI)ELOVL2
Genatlas (Paris)ELOVL2
WikiGenes54898
SOURCE (Princeton)ELOVL2
Genetics Home Reference (NIH)ELOVL2
Genomic and cartography
GoldenPath hg38 (UCSC)ELOVL2  -     chr6:10980760-11044391 -  6p24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ELOVL2  -     6p24.2   [Description]    (hg19-Feb_2009)
EnsemblELOVL2 - 6p24.2 [CytoView hg19]  ELOVL2 - 6p24.2 [CytoView hg38]
Mapping of homologs : NCBIELOVL2 [Mapview hg19]  ELOVL2 [Mapview hg38]
OMIM611814   
Gene and transcription
Genbank (Entrez)AJ420504 AK000341 AL080199 BC050278 BC060809
RefSeq transcript (Entrez)NM_017770
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ELOVL2
Cluster EST : UnigeneHs.656436 [ NCBI ]
CGAP (NCI)Hs.656436
Alternative Splicing GalleryENSG00000197977
Gene ExpressionELOVL2 [ NCBI-GEO ]   ELOVL2 [ EBI - ARRAY_EXPRESS ]   ELOVL2 [ SEEK ]   ELOVL2 [ MEM ]
Gene Expression Viewer (FireBrowse)ELOVL2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54898
GTEX Portal (Tissue expression)ELOVL2
Human Protein AtlasENSG00000197977-ELOVL2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NXB9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NXB9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NXB9
Splice isoforms : SwissVarQ9NXB9
PhosPhoSitePlusQ9NXB9
Domaine pattern : Prosite (Expaxy)ELO (PS01188)   
Domains : Interpro (EBI)ELO_CS    ELO_fam    ELOVL2   
Domain families : Pfam (Sanger)ELO (PF01151)   
Domain families : Pfam (NCBI)pfam01151   
Conserved Domain (NCBI)ELOVL2
DMDM Disease mutations54898
Blocks (Seattle)ELOVL2
SuperfamilyQ9NXB9
Human Protein Atlas [tissue]ENSG00000197977-ELOVL2 [tissue]
Peptide AtlasQ9NXB9
IPIIPI00413930   
Protein Interaction databases
DIP (DOE-UCLA)Q9NXB9
IntAct (EBI)Q9NXB9
FunCoupENSG00000197977
BioGRIDELOVL2
STRING (EMBL)ELOVL2
ZODIACELOVL2
Ontologies - Pathways
QuickGOQ9NXB9
Ontology : AmiGOprotein binding  endoplasmic reticulum  endoplasmic reticulum membrane  unsaturated fatty acid biosynthetic process  fatty acid elongase activity  fatty acid elongase activity  fatty acid elongase activity  fatty acid elongase activity  fatty acid elongation, saturated fatty acid  sphingolipid biosynthetic process  integral component of endoplasmic reticulum membrane  fatty acid elongation, monounsaturated fatty acid  fatty acid elongation, polyunsaturated fatty acid  fatty acid elongation, polyunsaturated fatty acid  long-chain fatty-acyl-CoA biosynthetic process  alpha-linolenic acid metabolic process  very long-chain fatty acid biosynthetic process  very long-chain fatty acid biosynthetic process  linoleic acid metabolic process  3-oxo-arachidoyl-CoA synthase activity  3-oxo-cerotoyl-CoA synthase activity  3-oxo-lignoceronyl-CoA synthase activity  very-long-chain 3-ketoacyl-CoA synthase activity  
Ontology : EGO-EBIprotein binding  endoplasmic reticulum  endoplasmic reticulum membrane  unsaturated fatty acid biosynthetic process  fatty acid elongase activity  fatty acid elongase activity  fatty acid elongase activity  fatty acid elongase activity  fatty acid elongation, saturated fatty acid  sphingolipid biosynthetic process  integral component of endoplasmic reticulum membrane  fatty acid elongation, monounsaturated fatty acid  fatty acid elongation, polyunsaturated fatty acid  fatty acid elongation, polyunsaturated fatty acid  long-chain fatty-acyl-CoA biosynthetic process  alpha-linolenic acid metabolic process  very long-chain fatty acid biosynthetic process  very long-chain fatty acid biosynthetic process  linoleic acid metabolic process  3-oxo-arachidoyl-CoA synthase activity  3-oxo-cerotoyl-CoA synthase activity  3-oxo-lignoceronyl-CoA synthase activity  very-long-chain 3-ketoacyl-CoA synthase activity  
Pathways : KEGGFatty acid elongation    Biosynthesis of unsaturated fatty acids   
NDEx NetworkELOVL2
Atlas of Cancer Signalling NetworkELOVL2
Wikipedia pathwaysELOVL2
Orthology - Evolution
OrthoDB54898
GeneTree (enSembl)ENSG00000197977
Phylogenetic Trees/Animal Genes : TreeFamELOVL2
HOVERGENQ9NXB9
HOGENOMQ9NXB9
Homologs : HomoloGeneELOVL2
Homology/Alignments : Family Browser (UCSC)ELOVL2
Gene fusions - Rearrangements
Fusion : QuiverELOVL2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerELOVL2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ELOVL2
dbVarELOVL2
ClinVarELOVL2
1000_GenomesELOVL2 
Exome Variant ServerELOVL2
ExAC (Exome Aggregation Consortium)ENSG00000197977
GNOMAD BrowserENSG00000197977
Varsome BrowserELOVL2
Genetic variants : HAPMAP54898
Genomic Variants (DGV)ELOVL2 [DGVbeta]
DECIPHERELOVL2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisELOVL2 
Mutations
ICGC Data PortalELOVL2 
TCGA Data PortalELOVL2 
Broad Tumor PortalELOVL2
OASIS PortalELOVL2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICELOVL2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDELOVL2
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 ELOVL2
DgiDB (Drug Gene Interaction Database)ELOVL2
DoCM (Curated mutations)ELOVL2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ELOVL2 (select a term)
intoGenELOVL2
Cancer3DELOVL2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611814   
Orphanet
DisGeNETELOVL2
MedgenELOVL2
Genetic Testing Registry ELOVL2
NextProtQ9NXB9 [Medical]
TSGene54898
GENETestsELOVL2
Target ValidationELOVL2
Huge Navigator ELOVL2 [HugePedia]
snp3D : Map Gene to Disease54898
BioCentury BCIQELOVL2
ClinGenELOVL2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54898
Chemical/Pharm GKB GenePA27761
Clinical trialELOVL2
Miscellaneous
canSAR (ICR)ELOVL2 (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineELOVL2
EVEXELOVL2
GoPubMedELOVL2
iHOPELOVL2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 11:04:29 CET 2018

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