Atlas of Genetics and Cytogenetics in Oncology and Haematology


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EDA (ectodysplasin A)

Identity

Other namesECTD1
ED1
ED1-A1
ED1-A2
EDA-A1
EDA-A2
EDA1
EDA2
HED
HED1
ODT1
STHAGX1
XHED
XLHED
HGNC (Hugo) EDA
LocusID (NCBI) 1896
Location Xq13.1
Location_base_pair Starts at 68835911 and ends at 69259321 bp from pter ( according to hg19-Feb_2009)
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)EDA   3157
Cards
Entrez_Gene (NCBI)EDA  1896  ectodysplasin A
GeneCards (Weizmann)EDA
Ensembl hg19 (Hinxton)ENSG00000158813 [Gene_View]  chrX:68835911-69259321 [Contig_View]  EDA [Vega]
Ensembl hg38 (Hinxton)ENSG00000158813 [Gene_View]  chrX:68835911-69259321 [Contig_View]  EDA [Vega]
ICGC DataPortalENSG00000158813
cBioPortalEDA
AceView (NCBI)EDA
Genatlas (Paris)EDA
WikiGenes1896
SOURCE (Princeton)EDA
Genomic and cartography
GoldenPath hg19 (UCSC)EDA  -     chrX:68835911-69259321 +  Xq13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EDA  -     Xq13.1   [Description]    (hg38-Dec_2013)
EnsemblEDA - Xq13.1 [CytoView hg19]  EDA - Xq13.1 [CytoView hg38]
Mapping of homologs : NCBIEDA [Mapview hg19]  EDA [Mapview hg38]
OMIM300451   305100   313500   
Gene and transcription
Genbank (Entrez)AF040628 AF060999 AF061189 AF061190 AF061191
RefSeq transcript (Entrez)NM_001005609 NM_001005610 NM_001005611 NM_001005612 NM_001005613 NM_001005614 NM_001399
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_009809 NT_011651 NW_001842373 NW_004929443
Consensus coding sequences : CCDS (NCBI)EDA
Cluster EST : UnigeneHs.105407 [ NCBI ]
CGAP (NCI)Hs.105407
Alternative Splicing : Fast-db (Paris)GSHG0031595
Alternative Splicing GalleryENSG00000158813
Gene ExpressionEDA [ NCBI-GEO ]     EDA [ SEEK ]   EDA [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92838 (Uniprot)
NextProtQ92838  [Medical]
With graphics : InterProQ92838
Splice isoforms : SwissVarQ92838 (Swissvar)
Domaine pattern : Prosite (Expaxy)TNF_2 (PS50049)   
Domains : Interpro (EBI)Collagen    TNF_dom    Tumour_necrosis_fac-like_dom   
Related proteins : CluSTrQ92838
Domain families : Pfam (Sanger)Collagen (PF01391)    TNF (PF00229)   
Domain families : Pfam (NCBI)pfam01391    pfam00229   
Domain families : Smart (EMBL)TNF (SM00207)  
DMDM Disease mutations1896
Blocks (Seattle)Q92838
PDB (SRS)1RJ7    1RJ8   
PDB (PDBSum)1RJ7    1RJ8   
PDB (IMB)1RJ7    1RJ8   
PDB (RSDB)1RJ7    1RJ8   
Human Protein AtlasENSG00000158813
Peptide AtlasQ92838
HPRD02347
IPIIPI00975907   IPI00216145   IPI00216147   IPI00216148   IPI00216149   IPI00216150   IPI00954278   IPI00216146   IPI00023765   IPI00967539   
Protein Interaction databases
DIP (DOE-UCLA)Q92838
IntAct (EBI)Q92838
FunCoupENSG00000158813
BioGRIDEDA
IntegromeDBEDA
STRING (EMBL)EDA
Ontologies - Pathways
QuickGOQ92838
Ontology : AmiGOreceptor binding  tumor necrosis factor receptor binding  protein binding  extracellular region  collagen trimer  endoplasmic reticulum membrane  cytoskeleton  plasma membrane  integral component of plasma membrane  immune response  cell-matrix adhesion  signal transduction  ectoderm development  gene expression  membrane  integral component of membrane  cell differentiation  positive regulation of NF-kappaB import into nucleus  odontogenesis of dentin-containing tooth  positive regulation of I-kappaB kinase/NF-kappaB signaling  intracellular membrane-bounded organelle  pigmentation  apical part of cell  positive regulation of NF-kappaB transcription factor activity  salivary gland cavitation  hair follicle placode formation  trachea gland development  positive regulation of canonical Wnt signaling pathway  
Ontology : EGO-EBIreceptor binding  tumor necrosis factor receptor binding  protein binding  extracellular region  collagen trimer  endoplasmic reticulum membrane  cytoskeleton  plasma membrane  integral component of plasma membrane  immune response  cell-matrix adhesion  signal transduction  ectoderm development  gene expression  membrane  integral component of membrane  cell differentiation  positive regulation of NF-kappaB import into nucleus  odontogenesis of dentin-containing tooth  positive regulation of I-kappaB kinase/NF-kappaB signaling  intracellular membrane-bounded organelle  pigmentation  apical part of cell  positive regulation of NF-kappaB transcription factor activity  salivary gland cavitation  hair follicle placode formation  trachea gland development  positive regulation of canonical Wnt signaling pathway  
Pathways : KEGGCytokine-cytokine receptor interaction   
Protein Interaction DatabaseEDA
DoCM (Curated mutations)EDA
Wikipedia pathwaysEDA
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerEDA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EDA
dbVarEDA
ClinVarEDA
1000_GenomesEDA 
Exome Variant ServerEDA
SNP (GeneSNP Utah)EDA
SNP : HGBaseEDA
Genetic variants : HAPMAPEDA
Genomic VariantsEDA  EDA [DGVbeta]
Mutations
ICGC Data PortalENSG00000158813 
Somatic Mutations in Cancer : COSMICEDA 
CONAN: Copy Number AnalysisEDA 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)X:68835911-69259321
Mutations and Diseases : HGMDEDA
OMIM300451    305100    313500   
MedgenEDA
NextProtQ92838 [Medical]
GENETestsEDA
Disease Genetic AssociationEDA
Huge Navigator EDA [HugePedia]  EDA [HugeCancerGEM]
snp3D : Map Gene to Disease1896
DGIdb (Drug Gene Interaction db)EDA
General knowledge
Homologs : HomoloGeneEDA
Homology/Alignments : Family Browser (UCSC)EDA
Phylogenetic Trees/Animal Genes : TreeFamEDA
Chemical/Protein Interactions : CTD1896
Chemical/Pharm GKB GenePA27601
Clinical trialEDA
Cancer Resource (Charite)ENSG00000158813
Other databases
Probes
Litterature
PubMed77 Pubmed reference(s) in Entrez
CoreMineEDA
GoPubMedEDA
iHOPEDA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 21:18:58 CET 2014

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