Atlas of Genetics and Cytogenetics in Oncology and Haematology

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EDA2R (ectodysplasin A2 receptor)

Identity

Alias_symbol (synonym)XEDAR
EDA-A2R
EDAA2R
TNFRSF27
Other alias
HGNC (Hugo) EDA2R
LocusID (NCBI) 60401
Atlas_Id 42843
Location Xq12  [Link to chromosome band Xq12]
Location_base_pair Starts at 66595640 and ends at 66639094 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

 

External links

Nomenclature
HGNC (Hugo)EDA2R   17756
Cards
Entrez_Gene (NCBI)EDA2R  60401  ectodysplasin A2 receptor
AliasesEDA-A2R; EDAA2R; TNFRSF27; XEDAR
GeneCards (Weizmann)EDA2R
Ensembl hg19 (Hinxton)ENSG00000131080 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000131080 [Gene_View]  ENSG00000131080 [Sequence]  chrX:66595640-66639094 [Contig_View]  EDA2R [Vega]
ICGC DataPortalENSG00000131080
TCGA cBioPortalEDA2R
AceView (NCBI)EDA2R
Genatlas (Paris)EDA2R
WikiGenes60401
SOURCE (Princeton)EDA2R
Genetics Home Reference (NIH)EDA2R
Genomic and cartography
GoldenPath hg38 (UCSC)EDA2R  -     chrX:66595640-66639094 -  Xq12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EDA2R  -     Xq12   [Description]    (hg19-Feb_2009)
GoldenPathEDA2R - Xq12 [CytoView hg19]  EDA2R - Xq12 [CytoView hg38]
ImmunoBaseENSG00000131080
Mapping of homologs : NCBIEDA2R [Mapview hg19]  EDA2R [Mapview hg38]
OMIM300276   
Gene and transcription
Genbank (Entrez)AF298812 AK296264 AK299018 AK314881 AY152724
RefSeq transcript (Entrez)NM_001199687 NM_001199688 NM_001199689 NM_001242310 NM_001324199 NM_001324201 NM_001324202 NM_001324204 NM_001324205 NM_001324206 NM_021783
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EDA2R
Cluster EST : UnigeneHs.302017 [ NCBI ]
CGAP (NCI)Hs.302017
Alternative Splicing GalleryENSG00000131080
Gene ExpressionEDA2R [ NCBI-GEO ]   EDA2R [ EBI - ARRAY_EXPRESS ]   EDA2R [ SEEK ]   EDA2R [ MEM ]
Gene Expression Viewer (FireBrowse)EDA2R [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)60401
GTEX Portal (Tissue expression)EDA2R
Human Protein AtlasENSG00000131080-EDA2R [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HAV5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HAV5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HAV5
Splice isoforms : SwissVarQ9HAV5
PhosPhoSitePlusQ9HAV5
Domaine pattern : Prosite (Expaxy)TNFR_NGFR_1 (PS00652)    TNFR_NGFR_2 (PS50050)   
Domains : Interpro (EBI)TNFR/NGFR_Cys_rich_reg    TNFR_27    TNFRSF27_N   
Domain families : Pfam (Sanger)TNFR_c6 (PF00020)   
Domain families : Pfam (NCBI)pfam00020   
Domain families : Smart (EMBL)TNFR (SM00208)  
Conserved Domain (NCBI)EDA2R
DMDM Disease mutations60401
Blocks (Seattle)EDA2R
SuperfamilyQ9HAV5
Human Protein Atlas [tissue]ENSG00000131080-EDA2R [tissue]
Peptide AtlasQ9HAV5
HPRD02230
IPIIPI00029116   IPI00456756   IPI00456757   IPI00910892   IPI00909188   
Protein Interaction databases
DIP (DOE-UCLA)Q9HAV5
IntAct (EBI)Q9HAV5
FunCoupENSG00000131080
BioGRIDEDA2R
STRING (EMBL)EDA2R
ZODIACEDA2R
Ontologies - Pathways
QuickGOQ9HAV5
Ontology : AmiGOtumor necrosis factor-activated receptor activity  protein binding  plasma membrane  plasma membrane  integral component of plasma membrane  multicellular organism development  epidermis development  ectodermal cell differentiation  integral component of membrane  tumor necrosis factor-mediated signaling pathway  signaling receptor activity  signaling receptor activity  positive regulation of I-kappaB kinase/NF-kappaB signaling  positive regulation of JNK cascade  positive regulation of JNK cascade  positive regulation of NF-kappaB transcription factor activity  intrinsic apoptotic signaling pathway by p53 class mediator  
Ontology : EGO-EBItumor necrosis factor-activated receptor activity  protein binding  plasma membrane  plasma membrane  integral component of plasma membrane  multicellular organism development  epidermis development  ectodermal cell differentiation  integral component of membrane  tumor necrosis factor-mediated signaling pathway  signaling receptor activity  signaling receptor activity  positive regulation of I-kappaB kinase/NF-kappaB signaling  positive regulation of JNK cascade  positive regulation of JNK cascade  positive regulation of NF-kappaB transcription factor activity  intrinsic apoptotic signaling pathway by p53 class mediator  
Pathways : KEGGCytokine-cytokine receptor interaction   
NDEx NetworkEDA2R
Atlas of Cancer Signalling NetworkEDA2R
Wikipedia pathwaysEDA2R
Orthology - Evolution
OrthoDB60401
GeneTree (enSembl)ENSG00000131080
Phylogenetic Trees/Animal Genes : TreeFamEDA2R
HOGENOMQ9HAV5
Homologs : HomoloGeneEDA2R
Homology/Alignments : Family Browser (UCSC)EDA2R
Gene fusions - Rearrangements
Fusion : QuiverEDA2R
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEDA2R [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EDA2R
dbVarEDA2R
ClinVarEDA2R
1000_GenomesEDA2R 
Exome Variant ServerEDA2R
ExAC (Exome Aggregation Consortium)ENSG00000131080
GNOMAD BrowserENSG00000131080
Varsome BrowserEDA2R
Genetic variants : HAPMAP60401
Genomic Variants (DGV)EDA2R [DGVbeta]
DECIPHEREDA2R [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEDA2R 
Mutations
ICGC Data PortalEDA2R 
TCGA Data PortalEDA2R 
Broad Tumor PortalEDA2R
OASIS PortalEDA2R [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEDA2R  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DEDA2R
Mutations and Diseases : HGMDEDA2R
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)X-chromosome gene database
BioMutasearch EDA2R
DgiDB (Drug Gene Interaction Database)EDA2R
DoCM (Curated mutations)EDA2R (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EDA2R (select a term)
intoGenEDA2R
Cancer3DEDA2R(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300276   
Orphanet180   
DisGeNETEDA2R
MedgenEDA2R
Genetic Testing Registry EDA2R
NextProtQ9HAV5 [Medical]
TSGene60401
GENETestsEDA2R
Target ValidationEDA2R
Huge Navigator EDA2R [HugePedia]
snp3D : Map Gene to Disease60401
BioCentury BCIQEDA2R
ClinGenEDA2R
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD60401
Chemical/Pharm GKB GenePA134974675
Clinical trialEDA2R
Miscellaneous
canSAR (ICR)EDA2R (select the gene name)
DataMed IndexEDA2R
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEDA2R
EVEXEDA2R
GoPubMedEDA2R
iHOPEDA2R
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 17:41:26 CET 2019
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