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EDAR (ectodysplasin A receptor)

Identity

Alias_namesED3
DL
ectodysplasin 1
Alias_symbol (synonym)ED5
EDA3
Edar
ED1R
EDA1R
Other aliasECTD10A
ECTD10B
EDA-A1R
HRM1
HGNC (Hugo) EDAR
LocusID (NCBI) 10913
Atlas_Id 55426
Location 2q13  [Link to chromosome band 2q13]
Location_base_pair Starts at 108894471 and ends at 108989372 bp from pter ( according to hg38-Dec_2013)

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  10913  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]  chr2:108894471-108989372 [Contig_View]  EDAR [Vega]
ICGC DataPortalENSG00000135960
TCGA cBioPortalEDAR
AceView (NCBI)EDAR
Genatlas (Paris)EDAR
WikiGenes10913
SOURCE (Princeton)EDAR
Genetics Home Reference (NIH)EDAR
Genomic and cartography
GoldenPath hg38 (UCSC)EDAR  -     chr2:108894471-108989372 -  2q13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EDAR  -     2q13   [Description]    (hg19-Feb_2009)
EnsemblEDAR - 2q13 [CytoView hg19]  EDAR - 2q13 [CytoView hg38]
Mapping of homologs : NCBIEDAR [Mapview hg19]  EDAR [Mapview hg38]
OMIM129490   224900   604095   612630   
Gene and transcription
Genbank (Entrez)AF130988 AI017384 AK296936 AK313781 BC093870
RefSeq transcript (Entrez)NM_022336
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EDAR
Cluster EST : UnigeneHs.171971 [ NCBI ]
CGAP (NCI)Hs.171971
Alternative Splicing GalleryENSG00000135960
Gene ExpressionEDAR [ NCBI-GEO ]   EDAR [ EBI - ARRAY_EXPRESS ]   EDAR [ SEEK ]   EDAR [ MEM ]
Gene Expression Viewer (FireBrowse)EDAR [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10913
GTEX Portal (Tissue expression)EDAR
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
Splice isoforms : SwissVarQ9UNE0
PhosPhoSitePlusQ9UNE0
Domains : Interpro (EBI)DEATH-like_dom    EDAR_N   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)EDAR
DMDM Disease mutations10913
Blocks (Seattle)EDAR
SuperfamilyQ9UNE0
Human Protein AtlasENSG00000135960
Peptide AtlasQ9UNE0
HPRD04974
IPIIPI00007051   IPI00470902   
Protein Interaction databases
DIP (DOE-UCLA)Q9UNE0
IntAct (EBI)Q9UNE0
FunCoupENSG00000135960
BioGRIDEDAR
STRING (EMBL)EDAR
ZODIACEDAR
Ontologies - Pathways
QuickGOQ9UNE0
Ontology : AmiGOhair follicle development  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  positive regulation of NF-kappaB import into nucleus  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  
Ontology : EGO-EBIhair follicle development  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  positive regulation of NF-kappaB import into nucleus  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  
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
HOVERGENQ9UNE0
HOGENOMQ9UNE0
Homologs : HomoloGeneEDAR
Homology/Alignments : Family Browser (UCSC)EDAR
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEDAR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EDAR
dbVarEDAR
ClinVarEDAR
1000_GenomesEDAR 
Exome Variant ServerEDAR
ExAC (Exome Aggregation Consortium)EDAR (select the gene name)
Genetic variants : HAPMAP10913
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]  
Mutations and Diseases : HGMDEDAR
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)Mendelian genes
BioMutasearch EDAR
DgiDB (Drug Gene Interaction Database)EDAR
DoCM (Curated mutations)EDAR (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EDAR (select a term)
intoGenEDAR
Cancer3DEDAR(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM129490    224900    604095    612630   
Orphanet7026    7027   
MedgenEDAR
Genetic Testing Registry EDAR
NextProtQ9UNE0 [Medical]
TSGene10913
GENETestsEDAR
Target ValidationEDAR
Huge Navigator EDAR [HugePedia]
snp3D : Map Gene to Disease10913
BioCentury BCIQEDAR
ClinGenEDAR
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10913
Chemical/Pharm GKB GenePA27602
Clinical trialEDAR
Miscellaneous
canSAR (ICR)EDAR (select the gene name)
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEDAR
EVEXEDAR
GoPubMedEDAR
iHOPEDAR
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:52:15 CEST 2017

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