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Aliases for EDA2R Gene

Aliases for EDA2R Gene

  • Ectodysplasin A2 Receptor 2 3
  • X-Linked Ectodysplasin-A2 Receptor 3 4
  • EDA-A2 Receptor 3 4
  • TNFRSF27 3 4
  • XEDAR 3 4
  • Tumor Necrosis Factor Receptor Superfamily Member XEDAR 3
  • EDA-A2R 3
  • EDAA2R 3

External Ids for EDA2R Gene

Previous GeneCards Identifiers for EDA2R Gene

  • GC0XM065598
  • GC0XM065732
  • GC0XM059642

Summaries for EDA2R Gene

Entrez Gene Summary for EDA2R Gene

  • 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. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, May 2011]

GeneCards Summary for EDA2R Gene

EDA2R (Ectodysplasin A2 Receptor) is a Protein Coding gene. Diseases associated with EDA2R include ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive and androgenic alopecia. Among its related pathways are Immune System and Interleukin receptor SHC signaling. GO annotations related to this gene include receptor activity and tumor necrosis factor-activated receptor activity. An important paralog of this gene is TNFRSF19.

UniProtKB/Swiss-Prot for EDA2R Gene

  • 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 TRAF6.

Gene Wiki entry for EDA2R Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EDA2R Gene

Genomics for EDA2R Gene

Regulatory Elements for EDA2R Gene

Genomic Location for EDA2R Gene

Chromosome:
X
Start:
66,594,384 bp from pter
End:
66,639,298 bp from pter
Size:
44,915 bases
Orientation:
Minus strand

Genomic View for EDA2R Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EDA2R Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EDA2R Gene

Proteins for EDA2R Gene

  • Protein details for EDA2R Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HAV5-TNR27_HUMAN
    Recommended name:
    Tumor necrosis factor receptor superfamily member 27
    Protein Accession:
    Q9HAV5
    Secondary Accessions:
    • Q5VYX9
    • Q5VYY0
    • Q6UWM2
    • Q8IZA6

    Protein attributes for EDA2R Gene

    Size:
    297 amino acids
    Molecular mass:
    32759 Da
    Quaternary structure:
    • Associates with TRAF1, TRAF3 and TRAF6

    Alternative splice isoforms for EDA2R Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EDA2R Gene

Proteomics data for EDA2R Gene at MOPED

Post-translational modifications for EDA2R Gene

  • Glycosylation at Asn 74
  • Modification sites at PhosphoSitePlus

Other Protein References for EDA2R Gene

Antibody Products

  • R&D Systems Antibodies for EDA2R (EDA2R/TNFRSF27/XEDAR)

No data available for DME Specific Peptides for EDA2R Gene

Domains & Families for EDA2R Gene

Protein Domains for EDA2R Gene

Suggested Antigen Peptide Sequences for EDA2R Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9HAV5

UniProtKB/Swiss-Prot:

TNR27_HUMAN :
  • Contains 3 TNFR-Cys repeats.
Similarity:
  • Contains 3 TNFR-Cys repeats.
genes like me logo Genes that share domains with EDA2R: view

Function for EDA2R Gene

Molecular function for EDA2R Gene

UniProtKB/Swiss-Prot Function:
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 TRAF6.

Gene Ontology (GO) - Molecular Function for EDA2R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity IDA 11039935
GO:0005031 tumor necrosis factor-activated receptor activity NAS 11039935
GO:0005515 protein binding IPI 11039935
genes like me logo Genes that share ontologies with EDA2R: view
genes like me logo Genes that share phenotypes with EDA2R: view

Animal Models for EDA2R Gene

MGI Knock Outs for EDA2R:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EDA2R

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for EDA2R Gene

Localization for EDA2R Gene

Subcellular locations from UniProtKB/Swiss-Prot for EDA2R Gene

Membrane; Single-pass type III membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EDA2R Gene COMPARTMENTS Subcellular localization image for EDA2R gene
Compartment Confidence
plasma membrane 2

Gene Ontology (GO) - Cellular Components for EDA2R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0016021 integral component of membrane IC 12270937
genes like me logo Genes that share ontologies with EDA2R: view

Pathways & Interactions for EDA2R Gene

genes like me logo Genes that share pathways with EDA2R: view

Pathways by source for EDA2R Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

SIGNOR curated interactions for EDA2R Gene

Is activated by:

Gene Ontology (GO) - Biological Process for EDA2R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organismal development IEA --
GO:0008544 epidermis development NAS 11039935
GO:0010668 ectodermal cell differentiation IC 12270937
GO:0033209 tumor necrosis factor-mediated signaling pathway TAS --
GO:0046330 positive regulation of JNK cascade IDA 12270937
genes like me logo Genes that share ontologies with EDA2R: view

Drugs & Compounds for EDA2R Gene

(1) Drugs for EDA2R Gene - From: IUPHAR and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ectodysplasin A2 Pharma 0
genes like me logo Genes that share compounds with EDA2R: view

Transcripts for EDA2R Gene

Unigene Clusters for EDA2R Gene

Ectodysplasin A2 receptor:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EDA2R

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EDA2R Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c
SP1: - -
SP2: -
SP3: -
SP4: - - - - - -
SP5: - - -
SP6: - - -

Relevant External Links for EDA2R Gene

GeneLoc Exon Structure for
EDA2R
ECgene alternative splicing isoforms for
EDA2R

Expression for EDA2R Gene

mRNA expression in normal human tissues for EDA2R Gene

Protein differential expression in normal tissues from HIPED for EDA2R Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for EDA2R Gene



SOURCE GeneReport for Unigene cluster for EDA2R Gene Hs.302017

genes like me logo Genes that share expression patterns with EDA2R: view

Protein tissue co-expression partners for EDA2R Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for EDA2R Gene

Orthologs for EDA2R Gene

This gene was present in the common ancestor of chordates.

Orthologs for EDA2R Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EDA2R 35
  • 88.29 (n)
  • 84.95 (a)
EDA2R 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eda2r 35
  • 84.23 (n)
  • 80.74 (a)
Eda2r 16
Eda2r 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EDA2R 35
  • 98.5 (n)
  • 97.12 (a)
EDA2R 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eda2r 35
  • 84.12 (n)
  • 79.53 (a)
oppossum
(Monodelphis domestica)
Mammalia EDA2R 36
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves EDA2R 35
  • 59.45 (n)
  • 50.52 (a)
EDA2R 36
  • 27 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EDA2R 36
  • 38 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eda2r 35
  • 50.06 (n)
  • 40.96 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2275 36
  • 20 (a)
OneToMany
Species with no ortholog for EDA2R:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for EDA2R Gene

ENSEMBL:
Gene Tree for EDA2R (if available)
TreeFam:
Gene Tree for EDA2R (if available)

Paralogs for EDA2R Gene

Paralogs for EDA2R Gene

(1) SIMAP similar genes for EDA2R Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with EDA2R: view

Variants for EDA2R Gene

Sequence variations from dbSNP and Humsavar for EDA2R Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs187194 -- 66,606,147(-) CTGGT(A/G)TCAGG intron-variant
rs191680 -- 66,606,416(-) aatgt(A/G)tgaag intron-variant
rs191681 -- 66,605,425(-) CATGT(A/G)CTCTT intron-variant
rs242880 -- 66,620,936(+) aaacc(A/C)caata intron-variant
rs242881 -- 66,594,085(+) ACCTC(A/C)TAAAT downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for EDA2R Gene

Variant ID Type Subtype PubMed ID
esv1584074 OTHER Inversion 17803354
nsv520630 CNV Gain+Loss 19592680

Variation tolerance for EDA2R Gene

Residual Variation Intolerance Score: 74.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.10; 22.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EDA2R Gene

HapMap Linkage Disequilibrium report
EDA2R
Human Gene Mutation Database (HGMD)
EDA2R

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EDA2R Gene

Disorders for EDA2R Gene

MalaCards: The human disease database

(3) MalaCards diseases for EDA2R Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive
  • hypercholanemia, familial
androgenic alopecia
  • androgenetic alopecia
alopecia
- elite association
Search EDA2R in MalaCards View complete list of genes associated with diseases

Relevant External Links for EDA2R

Genetic Association Database (GAD)
EDA2R
Human Genome Epidemiology (HuGE) Navigator
EDA2R
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EDA2R
genes like me logo Genes that share disorders with EDA2R: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EDA2R Gene

Publications for EDA2R Gene

  1. Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors. (PMID: 11039935) Yan M. … Dixit V.M. (Science 2000) 2 23 67
  2. X-linked ectodermal dysplasia receptor is downregulated in breast cancer via promoter methylation. (PMID: 20145163) Punj V. … Chaudhary P.M. (Clin. Cancer Res. 2010) 23 67
  3. p53-dependent transcriptional regulation of EDA2R and its involvement in chemotherapy-induced hair loss. (PMID: 20434500) Brosh R. … Rotter V. (FEBS Lett. 2010) 23 67
  4. Recent positive selection of a human androgen receptor/ectodysplasin A2 receptor haplotype and its relationship to male pattern baldness. (PMID: 19373488) Hillmer A.M. … NAPthen M.M. (Hum. Genet. 2009) 23 67
  5. XEDAR as a putative colorectal tumor suppressor that mediates p53-regulated anoikis pathway. (PMID: 19543321) Tanikawa C. … Matsuda K. (Oncogene 2009) 23 67

Products for EDA2R Gene

Sources for EDA2R Gene

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