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ELL2 (elongation factor for RNA polymerase II 2)

Identity

Alias_nameselongation factor
Other alias-
HGNC (Hugo) ELL2
LocusID (NCBI) 22936
Atlas_Id 40445
Location 5q15  [Link to chromosome band 5q15]
Location_base_pair Starts at 95885098 and ends at 95962071 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
COL1A1 (17q21.33) / ELL2 (5q15)DNER (2q36.3) / ELL2 (5q15)ELL2 (5q15) / TRIP12 (2q36.3)
SPPL2B (19p13.3) / ELL2 (5q15)

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)ELL2   17064
Cards
Entrez_Gene (NCBI)ELL2  22936  elongation factor for RNA polymerase II 2
Aliases
GeneCards (Weizmann)ELL2
Ensembl hg19 (Hinxton)ENSG00000118985 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000118985 [Gene_View]  chr5:95885098-95962071 [Contig_View]  ELL2 [Vega]
ICGC DataPortalENSG00000118985
TCGA cBioPortalELL2
AceView (NCBI)ELL2
Genatlas (Paris)ELL2
WikiGenes22936
SOURCE (Princeton)ELL2
Genetics Home Reference (NIH)ELL2
Genomic and cartography
GoldenPath hg38 (UCSC)ELL2  -     chr5:95885098-95962071 -  5q15   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ELL2  -     5q15   [Description]    (hg19-Feb_2009)
EnsemblELL2 - 5q15 [CytoView hg19]  ELL2 - 5q15 [CytoView hg38]
Mapping of homologs : NCBIELL2 [Mapview hg19]  ELL2 [Mapview hg38]
OMIM601874   
Gene and transcription
Genbank (Entrez)AB209343 AK296870 AK297956 AK300310 AV652801
RefSeq transcript (Entrez)NM_012081
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ELL2
Cluster EST : UnigeneHs.708710 [ NCBI ]
CGAP (NCI)Hs.708710
Alternative Splicing GalleryENSG00000118985
Gene ExpressionELL2 [ NCBI-GEO ]   ELL2 [ EBI - ARRAY_EXPRESS ]   ELL2 [ SEEK ]   ELL2 [ MEM ]
Gene Expression Viewer (FireBrowse)ELL2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22936
GTEX Portal (Tissue expression)ELL2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00472   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00472  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00472
Splice isoforms : SwissVarO00472
PhosPhoSitePlusO00472
Domains : Interpro (EBI)ELL/occludin    ELL2    ELL_N    Occludin_ELL    WHTH_DNA-bd_dom   
Domain families : Pfam (Sanger)ELL (PF10390)    Occludin_ELL (PF07303)   
Domain families : Pfam (NCBI)pfam10390    pfam07303   
Conserved Domain (NCBI)ELL2
DMDM Disease mutations22936
Blocks (Seattle)ELL2
PDB (SRS)2E5N   
PDB (PDBSum)2E5N   
PDB (IMB)2E5N   
PDB (RSDB)2E5N   
Structural Biology KnowledgeBase2E5N   
SCOP (Structural Classification of Proteins)2E5N   
CATH (Classification of proteins structures)2E5N   
SuperfamilyO00472
Human Protein AtlasENSG00000118985
Peptide AtlasO00472
HPRD11798
IPIIPI00011757   IPI00908405   IPI00742961   IPI00968255   IPI00966666   
Protein Interaction databases
DIP (DOE-UCLA)O00472
IntAct (EBI)O00472
FunCoupENSG00000118985
BioGRIDELL2
STRING (EMBL)ELL2
ZODIACELL2
Ontologies - Pathways
QuickGOO00472
Ontology : AmiGOprotein binding  nucleoplasm  nucleoplasm  regulation of transcription, DNA-templated  transcription elongation from RNA polymerase II promoter  transcription elongation factor complex  snRNA transcription from RNA polymerase II promoter  snRNA transcription from RNA polymerase II promoter  
Ontology : EGO-EBIprotein binding  nucleoplasm  nucleoplasm  regulation of transcription, DNA-templated  transcription elongation from RNA polymerase II promoter  transcription elongation factor complex  snRNA transcription from RNA polymerase II promoter  snRNA transcription from RNA polymerase II promoter  
NDEx NetworkELL2
Atlas of Cancer Signalling NetworkELL2
Wikipedia pathwaysELL2
Orthology - Evolution
OrthoDB22936
GeneTree (enSembl)ENSG00000118985
Phylogenetic Trees/Animal Genes : TreeFamELL2
HOVERGENO00472
HOGENOMO00472
Homologs : HomoloGeneELL2
Homology/Alignments : Family Browser (UCSC)ELL2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerELL2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ELL2
dbVarELL2
ClinVarELL2
1000_GenomesELL2 
Exome Variant ServerELL2
ExAC (Exome Aggregation Consortium)ELL2 (select the gene name)
Genetic variants : HAPMAP22936
Genomic Variants (DGV)ELL2 [DGVbeta]
DECIPHERELL2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisELL2 
Mutations
ICGC Data PortalELL2 
TCGA Data PortalELL2 
Broad Tumor PortalELL2
OASIS PortalELL2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICELL2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDELL2
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 ELL2
DgiDB (Drug Gene Interaction Database)ELL2
DoCM (Curated mutations)ELL2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ELL2 (select a term)
intoGenELL2
Cancer3DELL2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601874   
Orphanet
MedgenELL2
Genetic Testing Registry ELL2
NextProtO00472 [Medical]
TSGene22936
GENETestsELL2
Target ValidationELL2
Huge Navigator ELL2 [HugePedia]
snp3D : Map Gene to Disease22936
BioCentury BCIQELL2
ClinGenELL2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD22936
Chemical/Pharm GKB GenePA134935340
Clinical trialELL2
Miscellaneous
canSAR (ICR)ELL2 (select the gene name)
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineELL2
EVEXELL2
GoPubMedELL2
iHOPELL2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:00:21 CEST 2017

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