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Aliases & Descriptions for EDAR
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| DL 2, 3, 5 | | ED1R 1, 2 | | ED3 2, 5 | | ED5 1, 2 | | EDA-A1R 2 | | EDA1R 1, 2 | | EDA3 1, 2, 5 | | Edar 1 | | FLJ94390 2 | | HRM1 2, 5 |
| | | Descriptions |
|---|
| Anhidrotic ectodysplasin receptor 1 3 | | Downless homolog 3 | | EDA-A1 receptor 3 | | Ectodermal dysplasia receptor 3 | | Ectodysplasin-A receptor 3 | | downless, mouse, homolog of 2 | | ectodysplasin 1, anhidrotic receptor 1, 2 | | ectodysplasin A receptor 2 |
|
| | Search outside databases for aliases for EDAR genePrevious GC identifers: GC02M107416 GC02M107989 GC02M109115 GC02M109132 |
Summaries for EDAR(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for EDAR: This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. [provided by RefSeq] UniProtKB/Swiss-Prot: EDAR_HUMAN, Q9UNE0Function: Receptor for EDA isoform A1, but not for EDA isoform A2. Mediates the activation of NF-kappa-B and JNK. May promote caspase-independent cell deathGene Wiki entry for EDAR |
Genomic Location for EDAR
(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 EDAR gene 
Entrez Gene cytogenetic band: 2q11-q13 Ensembl cytogenetic band: 2q13 HGNC cytogenetic band: 2q13EDAR 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 2 GeneLoc Exon Structure GeneLoc location for GC02M108969:
(about GC identifiers)
Start:
|
108,877,359 bp from pter |
End:
|
108,972,260 bp from pter |
Size:
|
94,902 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000002.10 NT_022171.14
| Proteins for EDAR
(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: EDAR_HUMAN, Q9UNE0 (See
protein sequence)Recommended Name: Tumor necrosis factor receptor superfamily member EDAR precursor Size: 448 amino acids; 48582 Da
Subunit: Binds to EDARADD. Associates with TRAF1, TRAF2, TRAF3 and NIK
Subcellular location: Membrane; Single-pass type I membrane protein (Probable)
Developmental stage: Found in craniofacial tissues from embryonic day 42-53. Expressed in fetal skin 11 and 15 weeks after gestation
Secondary accessions: Q52LL5 Q9UND9Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_071731.1
ENSEMBL proteins: ENSP00000386371 ENSP00000365839 ENSP00000258443
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
3 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for EDAR: Assays for EDAR: | Protein
Domains/ Families for EDAR(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 Q9UNE0
ProtoNet protein and cluster: Q9UNE0 2 Blocks protein families: IPB000488 Death domain IPB001368 TNFR/CD27/30/40/95 cysteine-rich region
UniProtKB/Swiss-Prot: EDAR_HUMAN, Q9UNE0Similarity: Contains 1 death domainSimilarity: Contains 3 TNFR-Cys repeats | Gene Function for EDAR
(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_022336
Applied Biosystems Silencer® siRNAs for EDAR
Sigma-Aldrich siRNA for EDAR  Sigma-Aldrich shRNA for EDAR  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_022336                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_022336                                  untagged cDNA clone in CMV expression vector: NM_022336 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_022336
UniProtKB/Swiss-Prot: EDAR_HUMAN, Q9UNE0Function: Receptor for EDA isoform A1, but not for EDA isoform A2. Mediates the activation of NF-kappa-B and JNK. May promote caspase-independent cell death6 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Edar):
2 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for EDAR
(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 EDAR 
5/31 Interacting proteins for EDAR (ENSP000003658393 Q9UNE01) via UniProtKB, MINT, and/or STRING (see all 31
)About this table
5/9 Gene Ontology (GO) biological process terms (links to tree view) (see all 9
): About this table
|
Drugs & Compounds for EDAR(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 EDAR
|
Transcripts for EDAR(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_022336
Sigma-Aldrich siRNA for EDAR  Sigma-Aldrich shRNA for EDAR  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_022336 REFSEQ mRNAs for EDAR gene: NM_022336.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_022336               OriGene GFP tagged cDNA clone in CMV expression vector: NM_022336                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_022336                                  untagged cDNA clone in CMV expression vector: NM_022336  Additional cDNA sequence: AF130988.1 AK296936.1 AK313781.1 BC093870.1 BC093872.1 CR749352.1 1 DOTS entry: DT.402912 12 AceView cDNA sequences:AI888259 AI017384 W73914 AF130988 AA588273 AI341547 CR749352 AW751561 W77977 NM_022336 AI659436 AA478934
highest scoring ESTs for EDAR:AF130988 AI659436 AA478934 AA588273 AI017384 AI341547 AI888259 AU185236 AW751561 BX112904 Unigene Cluster for EDAR: Ectodysplasin A receptor Hs.171971 [show with all ESTs]Unigene Representative Sequence: CR749352
GeneLoc Exon Structure
3 Ensembl transcripts including schematic representations: ENST00000409271
ENST00000376651
ENST00000258443
|
Expression for EDAR
(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
| EDAR expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for EDAR
1 / 2 / 3 3 probe-sets matching EDAR gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.171971 UniProtKB/Swiss-Prot: EDAR_HUMAN, Q9UNE0Tissue specificity: Detected in fetal kidney, lung, skin and cultured neonatal epidermal keratinocytes. Not detected in lymphoblast and fibroblast cell lines |
Orthologs for EDAR
(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 EDAR gene from 5/8 species (see all 8
)
About this table Species with no ortholog for EDAR
ENSEMBL Gene Tree for EDAR | Paralogs for EDAR(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for EDAR gene
- TNFRSF192 EDA2R2
|
SNPs/Variants for EDAR(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
| UniProtKB/Swiss-Prot: EDAR_HUMAN, Q9UNE0Polymorphism: Genetic variation in EDAR is associated with hair morphology type 1 (HRM1) [MIM:612630]; also called variation in hair thickness. Besides skin color and facial features, hair morphology is one of the most distinctive traits among human populations, and classical classification of human population is based on such visible traits
HapMap Linkage Disequilibrium images for EDAR (up to first 250kb)
|
Disorders & Mutations for EDAR
(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: 604095 disorders: 129490 224900 612630 UniProtKB/Swiss-Prot: EDAR_HUMAN, Q9UNE0
Defects in EDAR are a cause of ectodermal dysplasia anhidrotic (EDA) [MIM:224900]; also known ectodermal dysplasia hypohidrotic autosomal recessive (HED). Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDA is characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands Defects in EDAR are the cause of ectodermal dysplasia type 3 (ED3) [MIM:129490]; also known as ectodermal dysplasia hypohidrotic autosomal dominant or EDA3. ED3 is an autosomal dominant condition characterized by hypotrichosis, abnormal or missing teeth, and hypohidrosis due to the absence of sweat glands4 Novoseek disease relationships for EDAR gene
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| ectodermal dysplasia, hypohidrotic |
95.85 |
13 |
11374782 (1), 11570810 (1), 16251197 (1), 17501952 (1) (see all 12) |
| ectodermal dysplasia |
91.60 |
13 |
15280356 (2), 11035039 (2), 12270937 (2), 11374782 (1) (see all 9) |
| necrosis |
40.29 |
13 |
11570810 (1), 17371397 (1), 14699584 (1), 15280356 (1) (see all 9) |
| tumors |
11.45 |
13 |
11570810 (1), 17371397 (1), 14699584 (1), 15280356 (1) (see all 9) |
About this table
GeneTests: EDAR Hypohidrotic Ectodermal Dysplasia Human Gene Mutation Database: EDAR
|
Medical News for EDAR(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for EDAR (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
| 10/54 PubMed articles for EDAR gene (see all 54
):- Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. (PubMed id 10431241)1, 2, 3, 4 Monreal A.W....Zonana J. (1999)
- The ectodermal dysplasia receptor activates the nuclear factor- kappaB, JNK, and cell death pathways and binds to ectodysplasin A. (PubMed id 11035039)1, 3, 4 Kumar A.... Chaudhary P.M. (2001)
- Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. (PubMed id 18231121)1, 3, 4 van der Hout A.H....van Essen A.J. (2008)
- Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. (PubMed id 16435307)1, 3, 4 Chassaing N....Vincent M.C. (2006)
- A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness. (PubMed id 18065779)1, 3, 4 Fujimoto A....Tokunaga K. (2008)
- Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)3, 4 Zhang Z. and Henzel W.J. (2004)
- 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)
- Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors. (PubMed id 11039935)3, 4 Yan M.... Dixit V.M. (2000)
- Autosomal dominant hypohidrotic ectodermal dysplasia in a large family. (PubMed id 9375732)2, 3 Aswegan A.L....Williams M.S. (1997)
- Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form. (PubMed id 18561327)1, 3 Mou C....Headon D.J. (2008)
|
Search for EDAR
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing EDAR
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing EDAR
(According to HUGE)
About This Section
| -- |
Specialized Databases showing EDAR(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
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=EDAR |
|
| | | About This Section
| --
| Services for EDAR(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 EDAR:

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| | Recombinant Proteins (EDAR) | | Antibodies (EDAR) |
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Incremental update: 13 Oct 2009
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