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EDAR Gene(Protein Coding)

Ectodysplasin A Receptor

GCID:
GC02M108894
GIFtS:
52
Genes Participants
UDN Logo

Aliases for EDAR Gene

Aliases for EDAR Gene

  • Ectodysplasin A Receptor 2 3 5
  • Ectodysplasin 1, Anhidrotic Receptor 2 3
  • Anhidrotic Ectodysplasin Receptor 1 3 4
  • Ectodermal Dysplasia Receptor 3 4
  • Downless Homolog 3 4
  • EDA-A1 Receptor 3 4
  • DL 3 4
  • Tumor Necrosis Factor Receptor Superfamily Member EDAR 3
  • Downless, Mouse, Homolog Of 3
  • Ectodysplasin-A Receptor 4
  • ECTD10A 3
  • ECTD10B 3
  • EDA-A1R 3
  • EDA1R 3
  • ED1R 3
  • EDA3 3
  • HRM1 3
  • ED5 3
  • ED3 3

External Ids for EDAR Gene

Previous HGNC Symbols for EDAR Gene

  • ED3
  • DL

Previous GeneCards Identifiers for EDAR Gene

  • GC02M107416
  • GC02M107989
  • GC02M109115
  • GC02M109132
  • GC02M108969
  • GC02M109510
  • GC02M103109

Summaries for EDAR Gene

Entrez Gene Summary for EDAR Gene

  • 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, Jul 2008]

GeneCards Summary for EDAR Gene

EDAR (Ectodysplasin A Receptor) is a Protein Coding gene. Diseases associated with EDAR include Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant and Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive. Among its related pathways are Cytokine Signaling in Immune system and Innate Immune System. Gene Ontology (GO) annotations related to this gene include receptor activity and transmembrane signaling receptor activity.

UniProtKB/Swiss-Prot for EDAR Gene

  • 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 death.

Gene Wiki entry for EDAR Gene

Additional gene information for EDAR Gene

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

Genomics for EDAR Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for EDAR Gene

Promoters and enhancers for EDAR Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH02I108972 Promoter/Enhancer 0.7 EPDnew dbSUPER 550.4 +16.4 16401 0.1 EDAR PIR32838 GC02M108928
GH02I108988 Enhancer 0.6 Ensembl 550.8 +0.2 210 0.7 CTCF ZNF654 GLIS1 ZNF143 SMC3 SIN3A RAD21 EZH2 EDAR PIR32838
GH02I108932 Enhancer 0.7 dbSUPER 11.3 +54.9 54893 4 CTCF TAL1 KLF17 ZIC2 RFX5 TCF12 ZFHX2 ZNF316 SCRT2 CBFA2T2 EDAR SULT1C4 GC02M108928 PIR32838
GH02I108942 Enhancer 0.6 dbSUPER 11.4 +44.7 44704 4.4 CTCF ZNF146 RNF2 RAD21 SKI ZFHX2 GLIS1 NR2F6 EDAR GC02M108928 PIR32838
GH02I109061 Enhancer 0.5 ENCODE 10.7 -73.3 -73255 1.9 CTCF ZFHX2 POLR2A GLIS1 ZIC2 RAD21 EGR2 EDAR LOC105373543 PIR45653
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EDAR on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EDAR gene promoter:

Genomic Locations for EDAR Gene

Genomic Locations for EDAR Gene
chr2:108,894,471-108,989,372
(GRCh38/hg38)
Size:
94,902 bases
Orientation:
Minus strand
chr2:109,510,927-109,605,828
(GRCh37/hg19)

Genomic View for EDAR Gene

Genes around EDAR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EDAR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EDAR Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for EDAR Gene

Proteins for EDAR Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

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

    Protein Symbol:
    Q9UNE0-EDAR_HUMAN
    Recommended name:
    Tumor necrosis factor receptor superfamily member EDAR
    Protein Accession:
    Q9UNE0
    Secondary Accessions:
    • B2R9H2
    • B4DLC5
    • D3DX74
    • E9PC98
    • Q52LL5
    • Q9UND9

    Protein attributes for EDAR Gene

    Size:
    448 amino acids
    Molecular mass:
    48582 Da
    Quaternary structure:
    • Binds to EDARADD. Associates with TRAF1, TRAF2, TRAF3 and NIK.

    Alternative splice isoforms for EDAR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EDAR Gene

Post-translational modifications for EDAR Gene

  • Glycosylation at posLast=3838
  • Modification sites at PhosphoSitePlus

Other Protein References for EDAR Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EDAR Gene

Domains & Families for EDAR Gene

Gene Families for EDAR Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for EDAR Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EDAR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

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

Function for EDAR Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for EDAR Gene

UniProtKB/Swiss-Prot Function:
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 death.

Phenotypes From GWAS Catalog for EDAR Gene

Gene Ontology (GO) - Molecular Function for EDAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity IDA 11039935
GO:0004888 transmembrane signaling receptor activity NAS 10431241
GO:0005515 protein binding IPI 11039935
genes like me logo Genes that share ontologies with EDAR: view
genes like me logo Genes that share phenotypes with EDAR: view

Human Phenotype Ontology for EDAR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EDAR Gene

MGI Knock Outs for EDAR:
  • Edar tm1b(KOMP)Wtsi

Animal Model Products

Clone Products

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

Localization for EDAR Gene

Subcellular locations from UniProtKB/Swiss-Prot for EDAR Gene

Membrane; Single-pass type I 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 EDAR gene
Compartment Confidence
plasma membrane 4
extracellular 3
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for EDAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS,IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 10431241
GO:0045177 apical part of cell IEA --
genes like me logo Genes that share ontologies with EDAR: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EDAR Gene

Pathways & Interactions for EDAR Gene

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

Pathways by source for EDAR Gene

1 BioSystems pathway for EDAR Gene
1 KEGG pathway for EDAR Gene
1 Qiagen pathway for EDAR Gene

SIGNOR curated interactions for EDAR Gene

Is activated by:

Gene Ontology (GO) - Biological Process for EDAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001942 hair follicle development IEA --
GO:0006915 apoptotic process IEA --
GO:0007275 multicellular organism development IEA --
GO:0008544 epidermis development TAS 12270937
GO:0010628 positive regulation of gene expression IEA --
genes like me logo Genes that share ontologies with EDAR: view

Drugs & Compounds for EDAR Gene

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ectodysplasin A1 Pharma 0
genes like me logo Genes that share compounds with EDAR: view

Transcripts for EDAR Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for EDAR Gene

(4) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EDAR Gene

Ectodysplasin A receptor:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for EDAR Gene

GeneLoc Exon Structure for
EDAR
ECgene alternative splicing isoforms for
EDAR

Expression for EDAR Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EDAR Gene

mRNA expression in normal human tissues for EDAR Gene
mRNA expression by BioGPS for EDAR GenemRNA expression by GTEx for EDAR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EDAR Gene

This gene is overexpressed in Esophagus - Mucosa (x12.7), Bladder (x6.7), Skin - Sun Exposed (Lower leg) (x5.7), Vagina (x5.0), and Skin - Not Sun Exposed (Suprapubic) (x4.5).

NURSA nuclear receptor signaling pathways regulating expression of EDAR Gene:

EDAR

SOURCE GeneReport for Unigene cluster for EDAR Gene:

Hs.171971

mRNA Expression by UniProt/SwissProt for EDAR Gene:

Q9UNE0-EDAR_HUMAN
Tissue specificity: Detected in fetal kidney, lung, skin and cultured neonatal epidermal keratinocytes. Not detected in lymphoblast and fibroblast cell lines.

Evidence on tissue expression from TISSUES for EDAR Gene

  • Skin(4.5)
  • Heart(4.2)
  • Liver(4)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • skeleton
Regions:
Head and neck:
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • scalp
  • skull
  • tooth
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • hair
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with EDAR: view

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for EDAR Gene

Orthologs for EDAR Gene

This gene was present in the common ancestor of chordates.

Orthologs for EDAR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia EDAR 33 34
  • 99.63 (n)
dog
(Canis familiaris)
 Mammalia EDAR 33 34
  • 88.67 (n)
oppossum
(Monodelphis domestica)
 Mammalia EDAR 34
  • 87 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Edar 33 16 34
  • 86.46 (n)
rat
(Rattus norvegicus)
 Mammalia Edar 33
  • 85.49 (n)
cow
(Bos Taurus)
 Mammalia EDAR 33 34
  • 84.13 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia EDAR 34
  • 65 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves EDAR 33 34
  • 77.15 (n)
lizard
(Anolis carolinensis)
 Reptilia EDAR 34
  • 80 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia edar 33
  • 70.66 (n)
African clawed frog
(Xenopus laevis)
 Amphibia edar-prov 33
zebrafish
(Danio rerio)
 Actinopterygii edar 33 34
  • 69.76 (n)
Species where no ortholog for EDAR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)

Evolution for EDAR Gene

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

Paralogs for EDAR Gene

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

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

No data available for Paralogs for EDAR Gene

Variants for EDAR Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Polymorphic Variants from UniProtKB/Swiss-Prot for EDAR Gene

EDAR_HUMAN-Q9UNE0
Genetic variation in EDAR is associated with variations in head hair thickness and defines the hair morphology locus 1 (HRM1) [MIM:612630]. 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.

Sequence variations from dbSNP and Humsavar for EDAR Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs10206737 likely-benign, Hypohidrotic Ectodermal Dysplasia, Dominant 108,895,908(-) G/A 3_prime_UTR_variant
rs1060499610 pathogenic, Autosomal dominant hypohidrotic ectodermal dysplasia 108,929,270(-) CCC/CC coding_sequence_variant, frameshift
rs10865025 benign, Hypohidrotic Ectodermal Dysplasia, Dominant 108,895,309(-) A/G 3_prime_UTR_variant
rs111463955 likely-benign, Hypohidrotic Ectodermal Dysplasia, Dominant 108,894,753(-) TAAGTAA/TAAGTAAGTAA 3_prime_UTR_variant
rs115259025 likely-benign, Hypohidrotic Ectodermal Dysplasia, Dominant 108,896,012(-) G/A 3_prime_UTR_variant

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

Variant ID Type Subtype PubMed ID
dgv1161e212 CNV loss 25503493
esv2132532 CNV deletion 18987734
esv2657394 CNV deletion 23128226
esv2720507 CNV deletion 23290073
esv2762779 CNV loss 21179565
esv3559928 CNV deletion 23714750
esv3591934 CNV loss 21293372
esv3591935 CNV loss 21293372
nsv1149522 OTHER inversion 26484159
nsv508854 CNV insertion 20534489
nsv516437 CNV loss 19592680

Variation tolerance for EDAR Gene

Residual Variation Intolerance Score: 39.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.58; 88.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EDAR Gene

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

SNP Genotyping and Copy Number Assay Products

Disorders for EDAR Gene

MalaCards: The human disease database

(14) MalaCards diseases for EDAR Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search EDAR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EDAR_HUMAN
  • Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant (ECTD10A) [MIM:129490]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant condition characterized by hypotrichosis, abnormal or missing teeth, and hypohidrosis due to the absence of sweat glands. {ECO:0000269 PubMed:10431241, ECO:0000269 PubMed:18231121}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]: A disorder due to abnormal development of two or more ectodermal structures, and characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. {ECO:0000269 PubMed:10431241, ECO:0000269 PubMed:15373768, ECO:0000269 PubMed:16029325, ECO:0000269 PubMed:16435307, ECO:0000269 PubMed:18231121, ECO:0000269 PubMed:19438931, ECO:0000269 PubMed:20979233, ECO:0000269 PubMed:27657131}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for EDAR

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

No data available for Genatlas for EDAR Gene

Publications for EDAR Gene

  1. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. (PMID: 10431241) Monreal AW … Zonana J (Nature genetics 1999) 2 3 4 22 58
  2. Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia. (PMID: 19438931) Shimomura Y … Christiano AM (Clinical genetics 2009) 3 4 22 58
  3. A common variation in EDAR is a genetic determinant of shovel-shaped incisors. (PMID: 19804850) Kimura R … Oota H (American journal of human genetics 2009) 3 22 44 58
  4. A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness. (PMID: 18065779) Fujimoto A … Tokunaga K (Human molecular genetics 2008) 3 4 22 58
  5. Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. (PMID: 18231121) van der Hout AH … van Essen AJ (European journal of human genetics : EJHG 2008) 3 4 22 58

Products for EDAR Gene

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