 |
 | Services
| |
 |
Aliases & Descriptions for EDA2R
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| EDA-A2R 1, 2 | | EDAA2R 1, 2 | | OTTHUMP00000023448 2 | | TNFRSF27 1, 2, 3 | | XEDAR 1, 2, 3 |
| | | Descriptions |
|---|
| EDA-A2 receptor 2, 3 | | X-linked ectodysplasin receptor 2 | | X-linked ectodysplasin-A2 receptor 2, 3 | | ectodysplasin A2 receptor 2 | | tumor necrosis factor receptor superfamily member XEDAR 2 |
|
| | Search outside databases for aliases for EDA2R genePrevious GC identifer: GC0XM065598 |
Summaries for EDA2R(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for EDA2R: EDA-A1 and EDA-A2 are two isoforms of ectodysplasin that are encoded by the anhidrotic ectodermal dysplasia (EDA) gene. Mutations in EDA give rise to a clinical syndrome characterized by loss of hair, sweat glands, and teeth. The protein encoded by this gene specifically binds to EDA-A2 isoform. This protein is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains 3 cysteine-rich repeats and a single transmembrane domain but lacks an N-terminal signal peptide. Multiple alternatively spliced transcript variants have been found for this gene, but some variants lack sufficient support. [provided by RefSeq] UniProtKB/Swiss-Prot: TNR27_HUMAN, Q9HAV5Function: Receptor for EDA isoform A2, but not for EDA isoform A1. Mediates the activation of the NF-kappa-B and JNK pathways. Activation seems to be mediated by binding to TRAF3 and TRAF6Gene Wiki entry for EDA2R (Ectodysplasin_A2_receptor) |
Genomic Location for EDA2R
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the EDA2R gene 
Entrez Gene cytogenetic band: Xq12 Ensembl cytogenetic band: Xq12 HGNC cytogenetic band: Xq11.1EDA2R Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome X GeneLoc Exon Structure GeneLoc location for GC0XM065732:
(about GC identifiers)
Start:
|
65,732,204 bp from pter |
End:
|
65,775,608 bp from pter |
Size:
|
43,405 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000023.9 NT_011669.16
| Proteins for EDA2R
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: TNR27_HUMAN, Q9HAV5 (See
protein sequence)Recommended Name: Tumor necrosis factor receptor superfamily member 27 Size: 297 amino acids; 32729 Da
Subunit: Associates with TRAF1, TRAF3 and TRAF6
Subcellular location: Membrane; Single-pass type III membrane protein
Secondary accessions: Q5VYX9 Q5VYY0 Q6UWM2 Q8IZA6Alternative splicing: 3 isoforms: Q9HAV5-1 Q9HAV5-2 Q9HAV5-3 REFSEQ proteins: NP_068555.1
ENSEMBL proteins: ENSP00000363851 ENSP00000379365 ENSP00000253392
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for EDA2R: Assays for EDA2R: | Protein
Domains/ Families for EDA2R(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q9HAV5
ProtoNet protein and cluster: Q9HAV5 1 Blocks protein family: IPB001368 TNFR/CD27/30/40/95 cysteine-rich region
UniProtKB/Swiss-Prot: TNR27_HUMAN, Q9HAV5Similarity: Contains 3 TNFR-Cys repeats | Gene Function for EDA2R
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_021783
Applied Biosystems Silencer® siRNAs for EDA2R
Sigma-Aldrich siRNA for EDA2R  Sigma-Aldrich shRNA for EDA2R  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_021783                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_021783                                  untagged cDNA clone in CMV expression vector: NM_021783 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_021783
UniProtKB/Swiss-Prot: TNR27_HUMAN, Q9HAV5Function: Receptor for EDA isoform A2, but not for EDA isoform A1. Mediates the activation of the NF-kappa-B and JNK pathways. Activation seems to be mediated by binding to TRAF3 and TRAF61 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Eda2r):
3 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for EDA2R
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
Gene Network CentralTM Interacting Genes and Proteins Network for EDA2R 
5/13 Interacting proteins for EDA2R (ENSP000002533923 Q9HAV51) via UniProtKB, MINT, and/or STRING (see all 13
)About this table
5 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for EDA2R(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for EDA2R
|
Transcripts for EDA2R(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_021783
Sigma-Aldrich siRNA for EDA2R  Sigma-Aldrich shRNA for EDA2R  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_021783 REFSEQ mRNAs for EDA2R gene: NM_021783.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_021783               OriGene GFP tagged cDNA clone in CMV expression vector: NM_021783                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_021783                                  untagged cDNA clone in CMV expression vector: NM_021783  Additional cDNA sequence: AF298812.1 AK296264.1 AK299018.1 AK314881.1 AY152724.1 AY358735.1 AY358736.1 BC034919.1 3 DOTS entries: DT.40233794 DT.100021704 DT.102822312 24/33 AceView cDNA sequences (see all 33
):CB216003 NM_021783 AI805813 AI185703 BC034919 BX104198 BU689709 BX095818 AY358735 BX647039 AX775694 AF298812 BP362600 BP358500 BQ772070 AX775690 AY358736 AA329106 AY152724 AX775692 BG257323 AI813293 BQ778317 BX480266
highest scoring ESTs for EDA2R:AA631436 AI185703 AY358735 AY358736 BC034919 BM013263 AA329106 AF298812 AI805813 AW292764 Unigene Cluster for EDA2R: Ectodysplasin A2 receptor Hs.302017 [show with all ESTs]Unigene Representative Sequence: BC034919
GeneLoc Exon Structure
5/6 Alternative Splicing Database (ASD) splice patterns (SP) for EDA2R (see all 6
)
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | · | 8d | ^ | 9a | · | 9b | · | 9c | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | - |   | |   | |   | - |   | - |   | |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for EDA2R
3 Ensembl transcripts including schematic representations: ENST00000374719
ENST00000396050
ENST00000253392
|
Expression for EDA2R
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| EDA2R expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for EDA2R
1 / 2 / 3 4 probe-sets matching EDA2R gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TGTAGATACT
SOURCE GeneReport for Unigene cluster: Hs.302017
|
Orthologs for EDA2R
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for EDA2R gene from 4 species
About this table Species with no ortholog for EDA2R
ENSEMBL Gene Tree for EDA2R | Paralogs for EDA2R(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for EDA2R gene
- TNFRSF192 EDAR2
|
SNPs/Variants for EDA2R(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for EDA2R (up to first 250kb)
|
Disorders & Mutations for EDA2R
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 300276
3 Novoseek disease relationships for EDA2R gene
About this table
Human Gene Mutation Database: EDA2R Human Genome Epidemiology Navigator: EDA2R (1 document)
|
Medical News for EDA2R(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for EDA2R (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/16 PubMed articles for EDA2R gene (see all 16
):- Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors. (PubMed id 11039935)1, 2, 3, 4 Yan M.... Dixit V.M. (2000)
- Role of TRAF3 and -6 in the activation of the NF-kappa B and JNK pathways by X-linked ectodermal dysplasia receptor. (PubMed id 12270937)1, 3, 4 Sinha S.K.... Chaudhary P.M. (2002)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)3, 4 Clark H.F....Gray A. (2003)
- Induction of apoptosis by X-linked ectodermal dysplasia receptor via a caspase 8-dependent mechanism. (PubMed id 15280356)1, 3 Sinha S.K. and Chaudhary P.M. (2004)
- Repertoire of mouse ectodysplasin-A (EDA-A) isoforms. (PubMed id 16423472)1, 3 Hashimoto T....Schlessinger D. (2006)
- EDA2R Is Associated with Androgenetic Alopecia. (PubMed id 18385763)3 Prodi D.A....Pirastu M. (2008)
- The DNA sequence of the human X chromosome. (PubMed id 15772651)4 Ross M.T.... Bentley D.R. (2005)
- TRAF6-deficient mice display hypohidrotic ectodermal dysplasia. (PubMed id 12060722)3 Naito A....Inoue J. (2002)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)3 Strausberg R.L....Marra M.A. (2002)
|
Search for EDA2R
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing EDA2R
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing EDA2R
(According to HUGE)
About This Section
| -- |
Specialized Databases showing EDA2R(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for EDA2R(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for EDA2R:

 | |
 | | | | |
|
 |  |  |
| | | | Search Tocris compounds for EDA2R |
|
 |
 | | | |
GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
|