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EDAR (ectodysplasin A receptor)

Identity

Alias (NCBI)DL
ECTD10A
ECTD10B
ED1R
ED3
ED5
EDA-A1R
EDA1R
EDA3
HRM1
HGNC (Hugo) EDAR
HGNC Alias symbED5
EDA3
ED1R
EDA1R
HGNC Previous nameED3
 DL
HGNC Previous nameectodysplasin 1, anhidrotic receptor
LocusID (NCBI) 10913
Atlas_Id 55426
Location 2q13  [Link to chromosome band 2q13]
Location_base_pair Starts at 108894471 and ends at 108989220 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)EDAR   2895
Cards
Entrez_Gene (NCBI)EDAR    ectodysplasin A receptor
AliasesDL; ECTD10A; ECTD10B; ED1R; 
ED3; ED5; EDA-A1R; EDA1R; EDA3; HRM1
GeneCards (Weizmann)EDAR
Ensembl hg19 (Hinxton)ENSG00000135960 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135960 [Gene_View]  ENSG00000135960 [Sequence]  chr2:108894471-108989220 [Contig_View]  EDAR [Vega]
ICGC DataPortalENSG00000135960
TCGA cBioPortalEDAR
AceView (NCBI)EDAR
Genatlas (Paris)EDAR
SOURCE (Princeton)EDAR
Genetics Home Reference (NIH)EDAR
Genomic and cartography
GoldenPath hg38 (UCSC)EDAR  -     chr2:108894471-108989220 -  2q13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EDAR  -     2q13   [Description]    (hg19-Feb_2009)
GoldenPathEDAR - 2q13 [CytoView hg19]  EDAR - 2q13 [CytoView hg38]
ImmunoBaseENSG00000135960
Genome Data Viewer NCBIEDAR [Mapview hg19]  
OMIM129490   224900   604095   612630   
Gene and transcription
Genbank (Entrez)AF130988 AI017384 AK296936 AK313781 BC093870
RefSeq transcript (Entrez)NM_022336
Consensus coding sequences : CCDS (NCBI)EDAR
Gene ExpressionEDAR [ NCBI-GEO ]   EDAR [ EBI - ARRAY_EXPRESS ]   EDAR [ SEEK ]   EDAR [ MEM ]
Gene Expression Viewer (FireBrowse)EDAR [ Firebrowse - Broad ]
GenevisibleExpression of EDAR in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10913
GTEX Portal (Tissue expression)EDAR
Human Protein AtlasENSG00000135960-EDAR [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UNE0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UNE0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UNE0
PhosPhoSitePlusQ9UNE0
Domains : Interpro (EBI)DEATH-like_dom_sf    EDAR_N   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)EDAR
SuperfamilyQ9UNE0
AlphaFold pdb e-kbQ9UNE0   
Human Protein Atlas [tissue]ENSG00000135960-EDAR [tissue]
HPRD04974
Protein Interaction databases
DIP (DOE-UCLA)Q9UNE0
IntAct (EBI)Q9UNE0
BioGRIDEDAR
STRING (EMBL)EDAR
ZODIACEDAR
Ontologies - Pathways
QuickGOQ9UNE0
Ontology : AmiGOhair follicle development  transmembrane signaling receptor activity  transmembrane signaling receptor activity  protein binding  plasma membrane  plasma membrane  apoptotic process  epidermis development  positive regulation of gene expression  integral component of membrane  cell differentiation  tumor necrosis factor-mediated signaling pathway  signaling receptor activity  odontogenesis of dentin-containing tooth  positive regulation of I-kappaB kinase/NF-kappaB signaling  pigmentation  apical part of cell  positive regulation of JNK cascade  salivary gland cavitation  positive regulation of NIK/NF-kappaB signaling  
Ontology : EGO-EBIhair follicle development  transmembrane signaling receptor activity  transmembrane signaling receptor activity  protein binding  plasma membrane  plasma membrane  apoptotic process  epidermis development  positive regulation of gene expression  integral component of membrane  cell differentiation  tumor necrosis factor-mediated signaling pathway  signaling receptor activity  odontogenesis of dentin-containing tooth  positive regulation of I-kappaB kinase/NF-kappaB signaling  pigmentation  apical part of cell  positive regulation of JNK cascade  salivary gland cavitation  positive regulation of NIK/NF-kappaB signaling  
Pathways : KEGGCytokine-cytokine receptor interaction   
NDEx NetworkEDAR
Atlas of Cancer Signalling NetworkEDAR
Wikipedia pathwaysEDAR
Orthology - Evolution
OrthoDB10913
GeneTree (enSembl)ENSG00000135960
Phylogenetic Trees/Animal Genes : TreeFamEDAR
Homologs : HomoloGeneEDAR
Homology/Alignments : Family Browser (UCSC)EDAR
Gene fusions - Rearrangements
Fusion : QuiverEDAR
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEDAR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EDAR
dbVarEDAR
ClinVarEDAR
MonarchEDAR
1000_GenomesEDAR 
Exome Variant ServerEDAR
GNOMAD BrowserENSG00000135960
Varsome BrowserEDAR
ACMGEDAR variants
VarityQ9UNE0
Genomic Variants (DGV)EDAR [DGVbeta]
DECIPHEREDAR [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEDAR 
Mutations
ICGC Data PortalEDAR 
TCGA Data PortalEDAR 
Broad Tumor PortalEDAR
OASIS PortalEDAR [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEDAR  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DEDAR
Mutations and Diseases : HGMDEDAR
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaEDAR
DgiDB (Drug Gene Interaction Database)EDAR
DoCM (Curated mutations)EDAR
CIViC (Clinical Interpretations of Variants in Cancer)EDAR
Cancer3DEDAR
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM129490    224900    604095    612630   
Orphanet7026    7027   
DisGeNETEDAR
MedgenEDAR
Genetic Testing Registry EDAR
NextProtQ9UNE0 [Medical]
GENETestsEDAR
Target ValidationEDAR
Huge Navigator EDAR [HugePedia]
ClinGenEDAR
Clinical trials, drugs, therapy
MyCancerGenomeEDAR
Protein Interactions : CTDEDAR
Pharm GKB GenePA27602
PharosQ9UNE0
Clinical trialEDAR
Miscellaneous
canSAR (ICR)EDAR
HarmonizomeEDAR
DataMed IndexEDAR
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXEDAR
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:07:40 CEST 2021

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