Atlas of Genetics and Cytogenetics in Oncology and Haematology

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EDNRB (endothelin receptor type B)

Identity

Alias_namesHSCR2
HSCR
Alias_symbol (synonym)ETB
Other aliasABCDS
ET-B
ET-BR
ETB1
ETBR
ETRB
WS4A
HGNC (Hugo) EDNRB
LocusID (NCBI) 1910
Atlas_Id 45614
Location 13q22.3  [Link to chromosome band 13q22]
Location_base_pair Starts at 77895481 and ends at 77918831 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)

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 Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Waardenburg syndrome (WS)

External links

Nomenclature
HGNC (Hugo)EDNRB   3180
Cards
Entrez_Gene (NCBI)EDNRB  1910  endothelin receptor type B
AliasesABCDS; ET-B; ET-BR; ETB; 
ETB1; ETBR; ETRB; HSCR; HSCR2; WS4A
GeneCards (Weizmann)EDNRB
Ensembl hg19 (Hinxton)ENSG00000136160 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136160 [Gene_View]  ENSG00000136160 [Sequence]  chr13:77895481-77918831 [Contig_View]  EDNRB [Vega]
ICGC DataPortalENSG00000136160
TCGA cBioPortalEDNRB
AceView (NCBI)EDNRB
Genatlas (Paris)EDNRB
WikiGenes1910
SOURCE (Princeton)EDNRB
Genetics Home Reference (NIH)EDNRB
Genomic and cartography
GoldenPath hg38 (UCSC)EDNRB  -     chr13:77895481-77918831 -  13q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EDNRB  -     13q22.3   [Description]    (hg19-Feb_2009)
GoldenPathEDNRB - 13q22.3 [CytoView hg19]  EDNRB - 13q22.3 [CytoView hg38]
ImmunoBaseENSG00000136160
Mapping of homologs : NCBIEDNRB [Mapview hg19]  EDNRB [Mapview hg38]
OMIM131244   277580   600155   600501   
Gene and transcription
Genbank (Entrez)AB209198 AF114163 AF114164 AF114165 AK290699
RefSeq transcript (Entrez)NM_000115 NM_001122659 NM_001201397 NM_003991
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EDNRB
Cluster EST : UnigeneHs.743195 [ NCBI ]
CGAP (NCI)Hs.743195
Alternative Splicing GalleryENSG00000136160
Gene ExpressionEDNRB [ NCBI-GEO ]   EDNRB [ EBI - ARRAY_EXPRESS ]   EDNRB [ SEEK ]   EDNRB [ MEM ]
Gene Expression Viewer (FireBrowse)EDNRB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1910
GTEX Portal (Tissue expression)EDNRB
Human Protein AtlasENSG00000136160-EDNRB [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP24530   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP24530  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP24530
Splice isoforms : SwissVarP24530
PhosPhoSitePlusP24530
Domaine pattern : Prosite (Expaxy)G_PROTEIN_RECEP_F1_1 (PS00237)    G_PROTEIN_RECEP_F1_2 (PS50262)   
Domains : Interpro (EBI)Endthln_rcpt    ETB_rcpt    GPCR_Rhodpsn    GPCR_Rhodpsn_7TM   
Domain families : Pfam (Sanger)7tm_1 (PF00001)   
Domain families : Pfam (NCBI)pfam00001   
Domain families : Smart (EMBL)7TM_GPCR_Srsx (SM01381)  
Conserved Domain (NCBI)EDNRB
DMDM Disease mutations1910
Blocks (Seattle)EDNRB
PDB (RSDB)5GLH    5GLI    5X93    5XPR   
PDB Europe5GLH    5GLI    5X93    5XPR   
PDB (PDBSum)5GLH    5GLI    5X93    5XPR   
PDB (IMB)5GLH    5GLI    5X93    5XPR   
Structural Biology KnowledgeBase5GLH    5GLI    5X93    5XPR   
SCOP (Structural Classification of Proteins)5GLH    5GLI    5X93    5XPR   
CATH (Classification of proteins structures)5GLH    5GLI    5X93    5XPR   
SuperfamilyP24530
Human Protein Atlas [tissue]ENSG00000136160-EDNRB [tissue]
Peptide AtlasP24530
HPRD08834
IPIIPI00029123   IPI00218197   IPI00412464   
Protein Interaction databases
DIP (DOE-UCLA)P24530
IntAct (EBI)P24530
FunCoupENSG00000136160
BioGRIDEDNRB
STRING (EMBL)EDNRB
ZODIACEDNRB
Ontologies - Pathways
QuickGOP24530
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  negative regulation of transcription by RNA polymerase II  neural crest cell migration  positive regulation of protein phosphorylation  endothelin receptor activity  endothelin receptor activity  protein binding  plasma membrane  plasma membrane  integral component of plasma membrane  regulation of pH  cell surface receptor signaling pathway  G protein-coupled receptor signaling pathway  negative regulation of adenylate cyclase activity  phospholipase C-activating G protein-coupled receptor signaling pathway  positive regulation of cytosolic calcium ion concentration  nervous system development  peripheral nervous system development  posterior midgut development  aging  regulation of blood pressure  positive regulation of cell proliferation  negative regulation of neuron maturation  response to organic cyclic compound  vein smooth muscle contraction  peptide hormone binding  sensory perception of pain  calcium-mediated signaling  cGMP-mediated signaling  melanocyte differentiation  regulation of fever generation  type 1 angiotensin receptor binding  nuclear membrane  negative regulation of cellular protein metabolic process  enteric smooth muscle cell differentiation  positive regulation of urine volume  positive regulation of renal sodium excretion  epithelial fluid transport  vasoconstriction  vasodilation  negative regulation of apoptotic process  membrane raft  macrophage chemotaxis  response to pain  enteric nervous system development  regulation of epithelial cell proliferation  regulation of sensory perception of pain  positive regulation of penile erection  cellular response to lipopolysaccharide  endothelin receptor signaling pathway  endothelin receptor signaling pathway  response to endothelin  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  negative regulation of transcription by RNA polymerase II  neural crest cell migration  positive regulation of protein phosphorylation  endothelin receptor activity  endothelin receptor activity  protein binding  plasma membrane  plasma membrane  integral component of plasma membrane  regulation of pH  cell surface receptor signaling pathway  G protein-coupled receptor signaling pathway  negative regulation of adenylate cyclase activity  phospholipase C-activating G protein-coupled receptor signaling pathway  positive regulation of cytosolic calcium ion concentration  nervous system development  peripheral nervous system development  posterior midgut development  aging  regulation of blood pressure  positive regulation of cell proliferation  negative regulation of neuron maturation  response to organic cyclic compound  vein smooth muscle contraction  peptide hormone binding  sensory perception of pain  calcium-mediated signaling  cGMP-mediated signaling  melanocyte differentiation  regulation of fever generation  type 1 angiotensin receptor binding  nuclear membrane  negative regulation of cellular protein metabolic process  enteric smooth muscle cell differentiation  positive regulation of urine volume  positive regulation of renal sodium excretion  epithelial fluid transport  vasoconstriction  vasodilation  negative regulation of apoptotic process  membrane raft  macrophage chemotaxis  response to pain  enteric nervous system development  regulation of epithelial cell proliferation  regulation of sensory perception of pain  positive regulation of penile erection  cellular response to lipopolysaccharide  endothelin receptor signaling pathway  endothelin receptor signaling pathway  response to endothelin  
Pathways : KEGGCalcium signaling pathway    Neuroactive ligand-receptor interaction    Melanogenesis   
NDEx NetworkEDNRB
Atlas of Cancer Signalling NetworkEDNRB
Wikipedia pathwaysEDNRB
Orthology - Evolution
OrthoDB1910
GeneTree (enSembl)ENSG00000136160
Phylogenetic Trees/Animal Genes : TreeFamEDNRB
HOGENOMP24530
Homologs : HomoloGeneEDNRB
Homology/Alignments : Family Browser (UCSC)EDNRB
Gene fusions - Rearrangements
Fusion : QuiverEDNRB
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEDNRB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EDNRB
dbVarEDNRB
ClinVarEDNRB
1000_GenomesEDNRB 
Exome Variant ServerEDNRB
ExAC (Exome Aggregation Consortium)ENSG00000136160
GNOMAD BrowserENSG00000136160
Varsome BrowserEDNRB
Genetic variants : HAPMAP1910
Genomic Variants (DGV)EDNRB [DGVbeta]
DECIPHEREDNRB [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEDNRB 
Mutations
ICGC Data PortalEDNRB 
TCGA Data PortalEDNRB 
Broad Tumor PortalEDNRB
OASIS PortalEDNRB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEDNRB  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DEDNRB
Mutations and Diseases : HGMDEDNRB
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
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch EDNRB
DgiDB (Drug Gene Interaction Database)EDNRB
DoCM (Curated mutations)EDNRB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EDNRB (select a term)
intoGenEDNRB
Cancer3DEDNRB(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM131244    277580    600155    600501   
Orphanet647    959   
DisGeNETEDNRB
MedgenEDNRB
Genetic Testing Registry EDNRB
NextProtP24530 [Medical]
TSGene1910
GENETestsEDNRB
Target ValidationEDNRB
Huge Navigator EDNRB [HugePedia]
snp3D : Map Gene to Disease1910
BioCentury BCIQEDNRB
ClinGenEDNRB (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1910
Chemical/Pharm GKB GenePA27618
Clinical trialEDNRB
Miscellaneous
canSAR (ICR)EDNRB (select the gene name)
DataMed IndexEDNRB
Probes
Litterature
PubMed223 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEDNRB
EVEXEDNRB
GoPubMedEDNRB
iHOPEDNRB
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 : Wed Nov 13 17:41:28 CET 2019
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