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 autosom... See more...

Aliases for EDAR Gene

Aliases for EDAR Gene

  • Ectodysplasin A Receptor 2 3 5
  • Tumor Necrosis Factor Receptor Superfamily Member EDAR 3 4
  • 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
  • EDA1R 2 3
  • ED1R 2 3
  • EDA3 2 3
  • ED5 2 3
  • DL 3 4
  • Downless, Mouse, Homolog Of 3
  • Ectodysplasin-A Receptor 4
  • ECTD10A 3
  • ECTD10B 3
  • EDA-A1R 3
  • HRM1 3
  • EDAR 5
  • 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 Innate Immune System and PEDF Induced Signaling. Gene Ontology (GO) annotations related to this gene include transmembrane signaling receptor activity. An important paralog of this gene is TNFRSF19.

UniProtKB/Swiss-Prot Summary 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

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EDAR Gene

Genomics for EDAR Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH02J108933 Promoter/Enhancer 1.3 EPDnew Ensembl dbSUPER 261.3 +53.5 53471 6.2 FOXA1 ZIC2 FOXA2 NBN PAX8 TAL1 MLLT1 ZNF316 TARDBP E4F1 EDAR SULT1C4 HSALNG0017752 piR-31839 CCDC138 LIMS3-LOC440895
GH02J108988 Promoter 0.7 Ensembl 250.7 +0.8 771 1.6 CTCF RXRA RAD21 SIN3A YY1 SMC3 BHLHE40 GLIS1 ZNF143 XRCC5 EDAR SULT1C2 HSALNG0017753 CCDC138 LIMS3-LOC440895
GH02J109045 Enhancer 0.8 Ensembl 10.6 -57.8 -57829 1.2 BCL11A ZIC2 TRIM22 ZNF843 CTCF ZBTB1 BATF POLR2A ZNF24 ZNF189 HSALNG0017759 EDAR HSALNG0017761 SH3RF3 LIMS3-LOC440895
GH02J108943 Enhancer 0.7 Ensembl dbSUPER 11.4 +45.1 45072 1.8 CTCF RAD21 GLIS1 ARID3A NR2F6 SMC3 RNF2 ZFHX2 EDAR HSALNG0017752 piR-31839 CCDC138 LIMS3-LOC440895
GH02J109061 Enhancer 0.7 Ensembl ENCODE 10.8 -73.3 -73328 2.2 CTCF ZIC2 GLIS1 EGR2 RAD21 ZFHX2 ZBTB44 HSALNG0017761 EDAR HSALNG0017763-001 SH3RF3 LIMS3-LOC440895
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EDAR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EDAR

Top Transcription factor binding sites by QIAGEN in the EDAR gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • FOXD3
  • FOXL1
  • HTF
  • NF-1
  • TBP
  • TFIID

Genomic Locations for EDAR Gene

Latest Assembly
chr2:108,894,471-108,989,372
(GRCh38/hg38)
Size:
94,902 bases
Orientation:
Minus strand

Previous Assembly
chr2:109,510,927-109,605,676
(GRCh37/hg19 by Entrez Gene)
Size:
94,750 bases
Orientation:
Minus strand

chr2:109,510,927-109,605,828
(GRCh37/hg19 by Ensembl)
Size:
94,902 bases
Orientation:
Minus strand

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 StructureGene Density

RefSeq DNA sequence for EDAR Gene

Proteins for EDAR Gene

  • 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 Asn38
  • Modification sites at PhosphoSitePlus

Other Protein References for EDAR Gene

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

InterPro:
Blocks:
  • TNFR/CD27/30/40/95 cysteine-rich region
  • Death domain
ProtoNet:

Suggested Antigen Peptide Sequences for EDAR Gene

GenScript: Design optimal peptide antigens:
  • Ectodysplasin-A receptor (EDAR_HUMAN)
genes like me logo Genes that share domains with EDAR: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for EDAR Gene

Function for EDAR Gene

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:0004888 transmembrane signaling receptor activity IDA,NAS 10431241
GO:0005515 protein binding IPI 11039935
GO:0038023 signaling receptor activity IBA 21873635
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 Edar<tm1b(KOMP)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EDAR

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
nucleus 2
cytosol 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for EDAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
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

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

(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

mRNA/cDNA for EDAR Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EDAR

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

No ASD Table

Relevant External Links for EDAR Gene

GeneLoc Exon Structure for
EDAR

Expression for EDAR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.3)
  • Liver(4.2)
  • Intestine(2)

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

Primer products for research

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 30 31
  • 99.63 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia EDAR 30 31
  • 88.67 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia EDAR 31
  • 87 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Edar 30 17 31
  • 86.46 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Edar 30
  • 85.49 (n)
Cow
(Bos Taurus)
Mammalia EDAR 30 31
  • 84.13 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia EDAR 31
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves EDAR 30 31
  • 77.15 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EDAR 31
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia edar 30
  • 70.66 (n)
African clawed frog
(Xenopus laevis)
Amphibia edar-prov 30
Zebrafish
(Danio rerio)
Actinopterygii edar 30 31
  • 69.76 (n)
OneToOne
Species where no ortholog for EDAR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for EDAR: view image

Paralogs for EDAR Gene

Paralogs for EDAR Gene

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

  • EDAR_HUMAN
  • E9PC98_HUMAN
genes like me logo Genes that share paralogs with EDAR: view

Variants for EDAR Gene

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EDAR Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
839010 Uncertain Significance: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 108,897,216(-) C/T
NM_022336.4(EDAR):c.1038G>A (p.Thr346=)
SYNONYMOUS
840707 Uncertain Significance: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 108,911,027(-) A/C
NM_022336.4(EDAR):c.575T>G (p.Met192Arg)
MISSENSE
840729 Uncertain Significance: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 108,897,124(-) A/G
NM_022336.4(EDAR):c.1130T>C (p.Leu377Pro)
MISSENSE
847026 Uncertain Significance: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 108,906,359(-) G/A
NM_022336.4(EDAR):c.973C>T (p.Arg325Trp)
MISSENSE
850904 Uncertain Significance: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 108,923,418(-) T/C
NM_022336.4(EDAR):c.392A>G (p.Tyr131Cys)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for EDAR Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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 Assays for research

Disorders for EDAR Gene

MalaCards: The human disease database

(31) MalaCards diseases for EDAR Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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 variants 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 variants affecting the gene represented in this entry.

Additional Disease Information for EDAR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 23 74
  2. 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 23 74
  3. 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 23
  4. 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 23 41
  5. Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form. (PMID: 18561327) Mou C … Headon DJ (Human mutation 2008) 3 4 23

Products for EDAR Gene

Sources for EDAR Gene