Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ESRRB (estrogen related receptor beta)

Identity

Alias_namesESRL2
DFNB35
deafness
Alias_symbol (synonym)ERR2
ERRbeta
NR3B2
ERRb
Other alias
HGNC (Hugo) ESRRB
LocusID (NCBI) 2103
Atlas_Id 50173
Location 14q24.3  [Link to chromosome band 14q24]
Location_base_pair Starts at 76371347 and ends at 76501837 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)		IFT57 (3q13.12) / ESRRB (14q24.3)PARVA (11p15.3) / ESRRB (14q24.3)PAX5 (9p13.2) / ESRRB (14q24.3)
PARVA 11p15.3 / ESRRB 14q24.3

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)ESRRB   3473
Cards
Entrez_Gene (NCBI)ESRRB  2103  estrogen related receptor beta
AliasesDFNB35; ERR2; ERRb; ESRL2; 
NR3B2
GeneCards (Weizmann)ESRRB
Ensembl hg19 (Hinxton)ENSG00000119715 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000119715 [Gene_View]  chr14:76371347-76501837 [Contig_View]  ESRRB [Vega]
ICGC DataPortalENSG00000119715
TCGA cBioPortalESRRB
AceView (NCBI)ESRRB
Genatlas (Paris)ESRRB
WikiGenes2103
SOURCE (Princeton)ESRRB
Genetics Home Reference (NIH)ESRRB
Genomic and cartography
GoldenPath hg38 (UCSC)ESRRB  -     chr14:76371347-76501837 +  14q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ESRRB  -     14q24.3   [Description]    (hg19-Feb_2009)
EnsemblESRRB - 14q24.3 [CytoView hg19]  ESRRB - 14q24.3 [CytoView hg38]
Mapping of homologs : NCBIESRRB [Mapview hg19]  ESRRB [Mapview hg38]
OMIM602167   608565   
Gene and transcription
Genbank (Entrez)AB307714 AK096020 AY451389 AY451390 BC131517
RefSeq transcript (Entrez)NM_004452
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ESRRB
Cluster EST : UnigeneHs.435845 [ NCBI ]
CGAP (NCI)Hs.435845
Alternative Splicing GalleryENSG00000119715
Gene ExpressionESRRB [ NCBI-GEO ]   ESRRB [ EBI - ARRAY_EXPRESS ]   ESRRB [ SEEK ]   ESRRB [ MEM ]
Gene Expression Viewer (FireBrowse)ESRRB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2103
GTEX Portal (Tissue expression)ESRRB
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95718   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95718  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95718
Splice isoforms : SwissVarO95718
PhosPhoSitePlusO95718
Domaine pattern : Prosite (Expaxy)NUCLEAR_REC_DBD_1 (PS00031)    NUCLEAR_REC_DBD_2 (PS51030)   
Domains : Interpro (EBI)Nucl_hrmn_rcpt_lig-bd    Nuclear_hrmn_rcpt    Oest-rel_rcp    Oest_rcpt/oest-rel_rcp    Znf_hrmn_rcpt    Znf_NHR/GATA   
Domain families : Pfam (Sanger)Hormone_recep (PF00104)    zf-C4 (PF00105)   
Domain families : Pfam (NCBI)pfam00104    pfam00105   
Domain families : Smart (EMBL)HOLI (SM00430)  ZnF_C4 (SM00399)  
Conserved Domain (NCBI)ESRRB
DMDM Disease mutations2103
Blocks (Seattle)ESRRB
PDB (SRS)1LO1   
PDB (PDBSum)1LO1   
PDB (IMB)1LO1   
PDB (RSDB)1LO1   
Structural Biology KnowledgeBase1LO1   
SCOP (Structural Classification of Proteins)1LO1   
CATH (Classification of proteins structures)1LO1   
SuperfamilyO95718
Human Protein AtlasENSG00000119715
Peptide AtlasO95718
HPRD03700
IPIIPI00032812   IPI00965112   IPI00554746   
Protein Interaction databases
DIP (DOE-UCLA)O95718
IntAct (EBI)O95718
FunCoupENSG00000119715
BioGRIDESRRB
STRING (EMBL)ESRRB
ZODIACESRRB
Ontologies - Pathways
QuickGOO95718
Ontology : AmiGORNA polymerase II distal enhancer sequence-specific DNA binding  embryonic placenta development  steroid hormone receptor activity  transcription coactivator activity  RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding  steroid binding  nucleus  nucleoplasm  regulation of transcription, DNA-templated  transcription initiation from RNA polymerase II promoter  transcription factor binding  zinc ion binding  stem cell population maintenance  intracellular receptor signaling pathway  steroid hormone mediated signaling pathway  sequence-specific DNA binding  positive regulation of transcription from RNA polymerase II promoter  
Ontology : EGO-EBIRNA polymerase II distal enhancer sequence-specific DNA binding  embryonic placenta development  steroid hormone receptor activity  transcription coactivator activity  RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding  steroid binding  nucleus  nucleoplasm  regulation of transcription, DNA-templated  transcription initiation from RNA polymerase II promoter  transcription factor binding  zinc ion binding  stem cell population maintenance  intracellular receptor signaling pathway  steroid hormone mediated signaling pathway  sequence-specific DNA binding  positive regulation of transcription from RNA polymerase II promoter  
NDEx NetworkESRRB
Atlas of Cancer Signalling NetworkESRRB
Wikipedia pathwaysESRRB
Orthology - Evolution
OrthoDB2103
GeneTree (enSembl)ENSG00000119715
Phylogenetic Trees/Animal Genes : TreeFamESRRB
HOVERGENO95718
HOGENOMO95718
Homologs : HomoloGeneESRRB
Homology/Alignments : Family Browser (UCSC)ESRRB
Gene fusions - Rearrangements
Fusion : MitelmanPARVA/ESRRB [11p15.3/14q24.3]  [t(11;14)(p15;q24)]  
Fusion: TCGAPARVA 11p15.3 ESRRB 14q24.3 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerESRRB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ESRRB
dbVarESRRB
ClinVarESRRB
1000_GenomesESRRB 
Exome Variant ServerESRRB
ExAC (Exome Aggregation Consortium)ESRRB (select the gene name)
Genetic variants : HAPMAP2103
Genomic Variants (DGV)ESRRB [DGVbeta]
DECIPHERESRRB [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisESRRB 
Mutations
ICGC Data PortalESRRB 
TCGA Data PortalESRRB 
Broad Tumor PortalESRRB
OASIS PortalESRRB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICESRRB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDESRRB
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ESRRB
DgiDB (Drug Gene Interaction Database)ESRRB
DoCM (Curated mutations)ESRRB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ESRRB (select a term)
intoGenESRRB
Cancer3DESRRB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602167    608565   
Orphanet12047   
MedgenESRRB
Genetic Testing Registry ESRRB
NextProtO95718 [Medical]
TSGene2103
GENETestsESRRB
Target ValidationESRRB
Huge Navigator ESRRB [HugePedia]
snp3D : Map Gene to Disease2103
BioCentury BCIQESRRB
ClinGenESRRB
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2103
Chemical/Pharm GKB GenePA27889
Clinical trialESRRB
Miscellaneous
canSAR (ICR)ESRRB (select the gene name)
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineESRRB
EVEXESRRB
GoPubMedESRRB
iHOPESRRB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Wed Jun 7 12:32:56 CEST 2017
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