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Aliases for EDA2R Gene

Aliases for EDA2R Gene

  • Ectodysplasin A2 Receptor 2 3 5
  • 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
  • Tumor Necrosis Factor Receptor Superfamily Member 27 3
  • Ectodysplasin A2 Isoform Receptor 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

  • The protein encoded by this gene is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains cysteine-rich repeats and a single transmembrane domain. This protein binds to the EDA-A2 isoform of ectodysplasin, which plays an important role in maintenance of hair and teeth. Alternatively spliced transcript variants encodes distinct protein isoforms. [provided by RefSeq, Apr 2016]

GeneCards Summary for EDA2R Gene

EDA2R (Ectodysplasin A2 Receptor) is a Protein Coding gene. Diseases associated with EDA2R include Ectodermal Dysplasia 1, Hypohidrotic, X-Linked and Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive. Among its related pathways are TRAF Pathway and Innate Immune System. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EDA2R Gene

Genomics for EDA2R Gene

Regulatory Elements for EDA2R Gene

Enhancers for EDA2R Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG066632 1.1 Ensembl ENCODE 5.7 +3.2 3168 7.5 MXI1 SAP130 ZFP64 MAX EBF1 ZNF507 HIC1 ZNF366 POLR2A NFYB RNU6-394P EDA2R HEPH PIR62183
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EDA2R on UCSC Golden Path with GeneCards custom track

Promoters for EDA2R Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000246909 698 2001 MXI1 SAP130 ZFP64 MAX EBF1 ZNF366 POLR2A NFYB EED SCRT2

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

Genes around EDA2R on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EDA2R Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for EDA2R Gene

  • Glycosylation at Asn74
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for EDA2R (EDA2R/TNFRSF27/XEDAR)
  • Santa Cruz Biotechnology (SCBT) Antibodies for EDA2R

Protein Products

Assay Products

  • Cloud-Clone Corp. Assay Kits for EDA2R

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

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

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

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

Human Phenotype Ontology for EDA2R Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EDA2R Gene

MGI Knock Outs for EDA2R:

Animal Model Products

CRISPR Products

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EDA2R gene
Compartment Confidence
plasma membrane 4
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

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:0016020 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

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 organism development IEA --
GO:0008544 epidermis development NAS 11039935
GO:0009888 tissue development IBA --
GO:0010668 ectodermal cell differentiation IC 12270937
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with EDA2R: view

Drugs & Compounds for EDA2R Gene

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

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:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for EDA2R Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EDA2R Gene:

EDA2R

SOURCE GeneReport for Unigene cluster for EDA2R Gene:

Hs.302017

Evidence on tissue expression from TISSUES for EDA2R Gene

  • Nervous system(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EDA2R Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeleton
Organs:
Head and neck:
  • brain
  • chin
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • scalp
  • skull
  • tooth
  • vocal cord
Thorax:
  • breast
  • lung
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with EDA2R: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia EDA2R 34 35
  • 98.5 (n)
cow
(Bos Taurus)
Mammalia EDA2R 34 35
  • 88.29 (n)
mouse
(Mus musculus)
Mammalia Eda2r 34 16 35
  • 84.23 (n)
rat
(Rattus norvegicus)
Mammalia Eda2r 34
  • 84.12 (n)
oppossum
(Monodelphis domestica)
Mammalia EDA2R 35
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves EDA2R 34 35
  • 59.45 (n)
lizard
(Anolis carolinensis)
Reptilia EDA2R 35
  • 38 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eda2r 34
  • 50.06 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2275 35
  • 20 (a)
OneToMany
Species where no ortholog for EDA2R was found in the sources mined by GeneCards:
  • 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
rs515726133 Uncertain significance 66,605,061(+) ACAGT(-/C)CCCAC intron-variant, nc-transcript-variant, reference, frameshift-variant
rs1000027902 -- 66,602,370(+) GTTTC(C/T)CACCG intron-variant
rs1000193095 -- 66,615,701(+) CACAT(A/C)TATTC intron-variant
rs1000211244 -- 66,611,303(+) GAAAA(A/G)CCACC intron-variant
rs1000352625 -- 66,625,000(+) GGGTA(C/G)AGGAA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2305e212 CNV gain 25503493
esv1584074 OTHER inversion 17803354
esv3576919 CNV gain 25503493
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

Human Gene Mutation Database (HGMD)
EDA2R
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EDA2R

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

Disorders for EDA2R Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
ectodermal dysplasia 1, hypohidrotic, x-linked
  • x-linked hypohidrotic ectodermal dysplasia
ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive
  • ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive
alopecia
androgenic alopecia
  • androgenetic alopecia
alopecia, androgenetic, 1
  • androgenetic alopecia
- elite association - COSMIC cancer census association via MalaCards
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 3 4 22 64
  2. Role of TRAF3 and -6 in the activation of the NF-kappa B and JNK pathways by X-linked ectodermal dysplasia receptor. (PMID: 12270937) Sinha S.K. … Chaudhary P.M. (J. Biol. Chem. 2002) 3 4 22 64
  3. Susceptibility variants on chromosome 7p21.1 suggest HDAC9 as a new candidate gene for male-pattern baldness. (PMID: 22032556) Brockschmidt F.F. … NAPthen M.M. (Br. J. Dermatol. 2011) 3 46 64
  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) 3 22 64
  5. XEDAR as a putative colorectal tumor suppressor that mediates p53-regulated anoikis pathway. (PMID: 19543321) Tanikawa C. … Matsuda K. (Oncogene 2009) 3 22 64

Products for EDA2R Gene

Sources for EDA2R Gene

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