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ELOVL4 (ELOVL fatty acid elongase 4)

Identity

Alias_namesSTGD2
STGD3
SCA34
elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4
spinocerebellar ataxia 34
Alias_symbol (synonym)CT118
Other aliasADMD
ISQMR
HGNC (Hugo) ELOVL4
LocusID (NCBI) 6785
Atlas_Id 62804
Location 6q14.1  [Link to chromosome band 6q14]
Location_base_pair Starts at 79914812 and ends at 79947598 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)
ELOVL4 (6q14.1) / ELOVL4 (6q14.1)

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)ELOVL4   14415
Cards
Entrez_Gene (NCBI)ELOVL4  6785  ELOVL fatty acid elongase 4
AliasesADMD; CT118; ISQMR; SCA34; 
STGD2; STGD3
GeneCards (Weizmann)ELOVL4
Ensembl hg19 (Hinxton)ENSG00000118402 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000118402 [Gene_View]  ENSG00000118402 [Sequence]  chr6:79914812-79947598 [Contig_View]  ELOVL4 [Vega]
ICGC DataPortalENSG00000118402
TCGA cBioPortalELOVL4
AceView (NCBI)ELOVL4
Genatlas (Paris)ELOVL4
WikiGenes6785
SOURCE (Princeton)ELOVL4
Genetics Home Reference (NIH)ELOVL4
Genomic and cartography
GoldenPath hg38 (UCSC)ELOVL4  -     chr6:79914812-79947598 -  6q14.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ELOVL4  -     6q14.1   [Description]    (hg19-Feb_2009)
EnsemblELOVL4 - 6q14.1 [CytoView hg19]  ELOVL4 - 6q14.1 [CytoView hg38]
Mapping of homologs : NCBIELOVL4 [Mapview hg19]  ELOVL4 [Mapview hg38]
OMIM605512   
Gene and transcription
Genbank (Entrez)AF277094 AJ420478 AK055277 AK310625 AK312511
RefSeq transcript (Entrez)NM_022726
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ELOVL4
Cluster EST : UnigeneHs.101915 [ NCBI ]
CGAP (NCI)Hs.101915
Alternative Splicing GalleryENSG00000118402
Gene ExpressionELOVL4 [ NCBI-GEO ]   ELOVL4 [ EBI - ARRAY_EXPRESS ]   ELOVL4 [ SEEK ]   ELOVL4 [ MEM ]
Gene Expression Viewer (FireBrowse)ELOVL4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6785
GTEX Portal (Tissue expression)ELOVL4
Human Protein AtlasENSG00000118402-ELOVL4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9GZR5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9GZR5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9GZR5
Splice isoforms : SwissVarQ9GZR5
PhosPhoSitePlusQ9GZR5
Domaine pattern : Prosite (Expaxy)ELO (PS01188)   
Domains : Interpro (EBI)ELO_CS    ELO_fam    ELOVL4   
Domain families : Pfam (Sanger)ELO (PF01151)   
Domain families : Pfam (NCBI)pfam01151   
Conserved Domain (NCBI)ELOVL4
DMDM Disease mutations6785
Blocks (Seattle)ELOVL4
SuperfamilyQ9GZR5
Human Protein Atlas [tissue]ENSG00000118402-ELOVL4 [tissue]
Peptide AtlasQ9GZR5
HPRD05697
IPIIPI00009295   
Protein Interaction databases
DIP (DOE-UCLA)Q9GZR5
IntAct (EBI)Q9GZR5
FunCoupENSG00000118402
BioGRIDELOVL4
STRING (EMBL)ELOVL4
ZODIACELOVL4
Ontologies - Pathways
QuickGOQ9GZR5
Ontology : AmiGO###############################################################################################################################################################################################################################################################                          
Ontology : EGO-EBI###############################################################################################################################################################################################################################################################                          
NDEx NetworkELOVL4
Atlas of Cancer Signalling NetworkELOVL4
Wikipedia pathwaysELOVL4
Orthology - Evolution
OrthoDB6785
GeneTree (enSembl)ENSG00000118402
Phylogenetic Trees/Animal Genes : TreeFamELOVL4
HOVERGENQ9GZR5
HOGENOMQ9GZR5
Homologs : HomoloGeneELOVL4
Homology/Alignments : Family Browser (UCSC)ELOVL4
Gene fusions - Rearrangements
Fusion : QuiverELOVL4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerELOVL4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ELOVL4
dbVarELOVL4
ClinVarELOVL4
1000_GenomesELOVL4 
Exome Variant ServerELOVL4
ExAC (Exome Aggregation Consortium)ENSG00000118402
GNOMAD BrowserENSG00000118402
Varsome BrowserELOVL4
Genetic variants : HAPMAP6785
Genomic Variants (DGV)ELOVL4 [DGVbeta]
DECIPHERELOVL4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisELOVL4 
Mutations
ICGC Data PortalELOVL4 
TCGA Data PortalELOVL4 
Broad Tumor PortalELOVL4
OASIS PortalELOVL4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICELOVL4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDELOVL4
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
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ELOVL4
DgiDB (Drug Gene Interaction Database)ELOVL4
DoCM (Curated mutations)ELOVL4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ELOVL4 (select a term)
intoGenELOVL4
Cancer3DELOVL4(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605512   
Orphanet158    1902    22057   
DisGeNETELOVL4
MedgenELOVL4
Genetic Testing Registry ELOVL4
NextProtQ9GZR5 [Medical]
TSGene6785
GENETestsELOVL4
Target ValidationELOVL4
Huge Navigator ELOVL4 [HugePedia]
snp3D : Map Gene to Disease6785
BioCentury BCIQELOVL4
ClinGenELOVL4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6785
Chemical/Pharm GKB GenePA27763
Clinical trialELOVL4
Miscellaneous
canSAR (ICR)ELOVL4 (select the gene name)
Probes
Litterature
PubMed1 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineELOVL4
EVEXELOVL4
GoPubMedELOVL4
iHOPELOVL4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jul 30 13:43:50 CEST 2018

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