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ELAVL2 (ELAV like RNA binding protein 2)

Identity

Alias_namesELAV (embryonic lethal, abnormal vision, Drosophila)-like 2
ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)
ELAV like neuron-specific RNA binding protein 2
Alias_symbol (synonym)HuB
HEL-N1
Other aliasHELN1
HUB
HGNC (Hugo) ELAVL2
LocusID (NCBI) 1993
Atlas_Id 50396
Location 9p21.3  [Link to chromosome band 9p21]
Location_base_pair Starts at 23690105 and ends at 23821845 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)
ELAVL2 (9p21.3) / CFTR (7q31.2)GAS7 (17p13.1) / ELAVL2 (9p21.3)ZDHHC21 (9p22.3) / ELAVL2 (9p21.3)
ELAVL2 9p21.3 / CFTR 7q31.2ZDHHC21 9p22.3 / ELAVL2 9p21.3

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)ELAVL2   3313
Cards
Entrez_Gene (NCBI)ELAVL2  1993  ELAV like RNA binding protein 2
AliasesHEL-N1; HELN1; HUB
GeneCards (Weizmann)ELAVL2
Ensembl hg19 (Hinxton)ENSG00000107105 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000107105 [Gene_View]  chr9:23690105-23821845 [Contig_View]  ELAVL2 [Vega]
ICGC DataPortalENSG00000107105
TCGA cBioPortalELAVL2
AceView (NCBI)ELAVL2
Genatlas (Paris)ELAVL2
WikiGenes1993
SOURCE (Princeton)ELAVL2
Genetics Home Reference (NIH)ELAVL2
Genomic and cartography
GoldenPath hg38 (UCSC)ELAVL2  -     chr9:23690105-23821845 -  9p21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ELAVL2  -     9p21.3   [Description]    (hg19-Feb_2009)
EnsemblELAVL2 - 9p21.3 [CytoView hg19]  ELAVL2 - 9p21.3 [CytoView hg38]
Mapping of homologs : NCBIELAVL2 [Mapview hg19]  ELAVL2 [Mapview hg38]
OMIM601673   
Gene and transcription
Genbank (Entrez)AB209294 BC030692 BC035004 BC042393 DQ891617
RefSeq transcript (Entrez)NM_001171195 NM_001171197 NM_004432
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ELAVL2
Cluster EST : UnigeneHs.166109 [ NCBI ]
CGAP (NCI)Hs.166109
Alternative Splicing GalleryENSG00000107105
Gene ExpressionELAVL2 [ NCBI-GEO ]   ELAVL2 [ EBI - ARRAY_EXPRESS ]   ELAVL2 [ SEEK ]   ELAVL2 [ MEM ]
Gene Expression Viewer (FireBrowse)ELAVL2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1993
GTEX Portal (Tissue expression)ELAVL2
Human Protein AtlasENSG00000107105-ELAVL2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ12926   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ12926  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ12926
Splice isoforms : SwissVarQ12926
PhosPhoSitePlusQ12926
Domaine pattern : Prosite (Expaxy)RRM (PS50102)   
Domains : Interpro (EBI)ELAD_HUD_SF    Hud_Sxl_RNA    Nucleotide-bd_a/b_plait    RRM_dom   
Domain families : Pfam (Sanger)RRM_1 (PF00076)   
Domain families : Pfam (NCBI)pfam00076   
Domain families : Smart (EMBL)RRM (SM00360)  
Conserved Domain (NCBI)ELAVL2
DMDM Disease mutations1993
Blocks (Seattle)ELAVL2
SuperfamilyQ12926
Human Protein Atlas [tissue]ENSG00000107105-ELAVL2 [tissue]
Peptide AtlasQ12926
HPRD03396
IPIIPI00030250   IPI00219967   IPI00184721   IPI00644008   IPI00645584   
Protein Interaction databases
DIP (DOE-UCLA)Q12926
IntAct (EBI)Q12926
FunCoupENSG00000107105
BioGRIDELAVL2
STRING (EMBL)ELAVL2
ZODIACELAVL2
Ontologies - Pathways
QuickGOQ12926
Ontology : AmiGOmRNA splicing, via spliceosome  RNA binding  mRNA 3'-UTR binding  protein binding  nucleoplasm  regulation of transcription, DNA-templated  
Ontology : EGO-EBImRNA splicing, via spliceosome  RNA binding  mRNA 3'-UTR binding  protein binding  nucleoplasm  regulation of transcription, DNA-templated  
NDEx NetworkELAVL2
Atlas of Cancer Signalling NetworkELAVL2
Wikipedia pathwaysELAVL2
Orthology - Evolution
OrthoDB1993
GeneTree (enSembl)ENSG00000107105
Phylogenetic Trees/Animal Genes : TreeFamELAVL2
HOVERGENQ12926
HOGENOMQ12926
Homologs : HomoloGeneELAVL2
Homology/Alignments : Family Browser (UCSC)ELAVL2
Gene fusions - Rearrangements
Fusion : MitelmanELAVL2/CFTR [9p21.3/7q31.2]  
Fusion : MitelmanZDHHC21/ELAVL2 [9p22.3/9p21.3]  [t(9;9)(p21;p22)]  
Fusion: TCGA_MDACCELAVL2 9p21.3 CFTR 7q31.2 PRAD
Fusion: TCGA_MDACCZDHHC21 9p22.3 ELAVL2 9p21.3 HNSC
Tumor Fusion PortalELAVL2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerELAVL2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ELAVL2
dbVarELAVL2
ClinVarELAVL2
1000_GenomesELAVL2 
Exome Variant ServerELAVL2
ExAC (Exome Aggregation Consortium)ENSG00000107105
GNOMAD BrowserENSG00000107105
Genetic variants : HAPMAP1993
Genomic Variants (DGV)ELAVL2 [DGVbeta]
DECIPHERELAVL2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisELAVL2 
Mutations
ICGC Data PortalELAVL2 
TCGA Data PortalELAVL2 
Broad Tumor PortalELAVL2
OASIS PortalELAVL2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICELAVL2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDELAVL2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ELAVL2
DgiDB (Drug Gene Interaction Database)ELAVL2
DoCM (Curated mutations)ELAVL2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ELAVL2 (select a term)
intoGenELAVL2
Cancer3DELAVL2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601673   
Orphanet
DisGeNETELAVL2
MedgenELAVL2
Genetic Testing Registry ELAVL2
NextProtQ12926 [Medical]
TSGene1993
GENETestsELAVL2
Target ValidationELAVL2
Huge Navigator ELAVL2 [HugePedia]
snp3D : Map Gene to Disease1993
BioCentury BCIQELAVL2
ClinGenELAVL2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1993
Chemical/Pharm GKB GenePA27741
Clinical trialELAVL2
Miscellaneous
canSAR (ICR)ELAVL2 (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineELAVL2
EVEXELAVL2
GoPubMedELAVL2
iHOPELAVL2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:11:51 CET 2017

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