EDARADD Gene (Protein Coding)

EDAR Associated Death Domain

GC01P236348
GIFtS:
40
This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal d... See more...

Aliases for EDARADD Gene

Aliases for EDARADD Gene

  • EDAR Associated Death Domain 2 3 5
  • Ectodysplasin-A Receptor-Associated Adapter Protein 3 4
  • EDAR-Associated Death Domain Protein 3 4
  • Ectodysplasia A Receptor Associated Death Domain 3
  • Protein Crinkled Homolog 4
  • Crinkled Homolog 3
  • ECTD11A 3
  • ECTD11B 3
  • EDARADD 5
  • EDA3 3
  • ED3 3

External Ids for EDARADD Gene

Previous GeneCards Identifiers for EDARADD Gene

  • GC01P234691
  • GC01P232012
  • GC01P232808
  • GC01P233598
  • GC01P232884
  • GC01P232885
  • GC01P236511
  • GC01P207012

Summaries for EDARADD Gene

Entrez Gene Summary for EDARADD Gene

  • This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

GeneCards Summary for EDARADD Gene

EDARADD (EDAR Associated Death Domain) is a Protein Coding gene. Diseases associated with EDARADD include Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive and Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant. Among its related pathways are Innate Immune System and TNF Superfamily Pathway: Human Ligand-Receptor Interactions and their Associated Functions.

UniProtKB/Swiss-Prot Summary for EDARADD Gene

  • Adapter protein that interacts with EDAR DEATH domain and couples the receptor to EDA signaling pathway during morphogenesis of ectodermal organs. Mediates the activation of NF-kappa-B.

Gene Wiki entry for EDARADD Gene

Additional gene information for EDARADD Gene

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

Genomics for EDARADD Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data

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

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

Top Transcription factor binding sites by QIAGEN in the EDARADD gene promoter:
  • AhR
  • AML1a
  • Arnt
  • FOXF2
  • Sox9
  • SRY

Genomic Locations for EDARADD Gene

Latest Assembly
chr1:236,348,257-236,502,915
(GRCh38/hg38)
Size:
154,659 bases
Orientation:
Plus strand

Previous Assembly
chr1:236,557,586-236,648,230
(GRCh37/hg19 by Entrez Gene)
Size:
90,645 bases
Orientation:
Plus strand

chr1:236,511,562-236,648,214
(GRCh37/hg19 by Ensembl)
Size:
136,653 bases
Orientation:
Plus strand

Genomic View for EDARADD Gene

Genes around EDARADD on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for EDARADD Gene

Proteins for EDARADD Gene

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

    Protein Symbol:
    Q8WWZ3-EDAD_HUMAN
    Recommended name:
    Ectodysplasin-A receptor-associated adapter protein
    Protein Accession:
    Q8WWZ3
    Secondary Accessions:
    • A2VCK5
    • A8K7B5
    • B1AL54
    • B9ZVW5
    • Q5VYJ7

    Protein attributes for EDARADD Gene

    Size:
    215 amino acids
    Molecular mass:
    24802 Da
    Quaternary structure:
    • Self-associates and binds EDAR, TRAF1, TRAF2 and TRAF3.

    Alternative splice isoforms for EDARADD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EDARADD Gene

Protein Expression for EDARADD Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for EDARADD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EDARADD Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EDARADD Gene

Domains & Families for EDARADD Gene

Gene Families for EDARADD Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for EDARADD Gene

InterPro:
Blocks:
  • Death domain
ProtoNet:

Suggested Antigen Peptide Sequences for EDARADD Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ95477, Homo sapiens EDAR-associated death domain (EDARADD), transcriptvariant B, mRNA (A8K7B5_HUMAN)
  • Protein crinkled homolog (EDAD_HUMAN)
genes like me logo Genes that share domains with EDARADD: view

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

Function for EDARADD Gene

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  6. Cell Lines for research

Molecular function for EDARADD Gene

UniProtKB/Swiss-Prot Function:
Adapter protein that interacts with EDAR DEATH domain and couples the receptor to EDA signaling pathway during morphogenesis of ectodermal organs. Mediates the activation of NF-kappa-B.

Phenotypes From GWAS Catalog for EDARADD Gene

Gene Ontology (GO) - Molecular Function for EDARADD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with EDARADD: view
genes like me logo Genes that share phenotypes with EDARADD: view

Human Phenotype Ontology for EDARADD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

Inhibitory RNAs for research

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

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

Localization for EDARADD Gene

Subcellular locations from UniProtKB/Swiss-Prot for EDARADD Gene

Cytoplasm.

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 EDARADD gene
Compartment Confidence
cytosol 5
extracellular 2
nucleus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EDARADD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with EDARADD: view

Pathways & Interactions for EDARADD Gene

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

Pathways by source for EDARADD Gene

1 KEGG pathway for EDARADD Gene

Gene Ontology (GO) - Biological Process for EDARADD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007275 multicellular organism development IEA --
GO:0030154 cell differentiation IEA --
GO:0033209 tumor necrosis factor-mediated signaling pathway TAS --
GO:1901224 positive regulation of NIK/NF-kappaB signaling IEA --
genes like me logo Genes that share ontologies with EDARADD: view

No data available for SIGNOR curated interactions for EDARADD Gene

Drugs & Compounds for EDARADD Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for EDARADD Gene

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mRNA/cDNA for EDARADD Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
5 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 EDARADD

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

No ASD Table

Relevant External Links for EDARADD Gene

GeneLoc Exon Structure for
EDARADD

Expression for EDARADD Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for EDARADD Gene
mRNA expression by GTEx for EDARADD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Bladder (x6.7) and Stomach (x4.6).

Protein differential expression in normal tissues from HIPED for EDARADD Gene

This gene is overexpressed in Breast (51.9) and Fetal heart (17.1).

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



Protein tissue co-expression partners for EDARADD Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EDARADD

SOURCE GeneReport for Unigene cluster for EDARADD Gene:

Hs.352224

mRNA Expression by UniProt/SwissProt for EDARADD Gene:

Q8WWZ3-EDAD_HUMAN
Tissue specificity: Detected in adult pancreas, placenta and fetal skin, and at lower levels in lung, thymus, prostate and testis.

Evidence on tissue expression from TISSUES for EDARADD Gene

  • Skin(4.4)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • skeleton
Regions:
Head and neck:
  • chin
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • scalp
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • skin
  • spinal column
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with EDARADD: view

Orthologs for EDARADD Gene

This gene was present in the common ancestor of chordates.

Orthologs for EDARADD Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia EDARADD 31
  • 99 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia EDARADD 30 31
  • 88.53 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia EDARADD 30 31
  • 86.03 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Edaradd 30 17 31
  • 82.06 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Edaradd 30
  • 80.88 (n)
Oppossum
(Monodelphis domestica)
 Mammalia EDARADD 31
  • 52 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves EDARADD 30 31
  • 70.65 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia EDARADD 31
  • 61 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100490133 30
  • 63.37 (n)
Zebrafish
(Danio rerio)
 Actinopterygii edaradd 30 31
  • 54.33 (n)
 OneToOne
Species where no ortholog for EDARADD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 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 EDARADD Gene

ENSEMBL:
Gene Tree for EDARADD (if available)
TreeFam:
Gene Tree for EDARADD (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EDARADD: view image

Paralogs for EDARADD Gene

(3) SIMAP similar genes for EDARADD Gene using alignment to 4 proteins:

  • EDAD_HUMAN
  • B1AL55_HUMAN
  • G8FL38_HUMAN
  • L0R849_HUMAN
genes like me logo Genes that share paralogs with EDARADD: view

No data available for Paralogs for EDARADD Gene

Variants for EDARADD Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EDARADD Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
843361 Uncertain Significance: Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant; Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 236,482,393(+) C/T
NM_145861.4(EDARADD):c.392C>T (p.Pro131Leu) 		MISSENSE
874226 Uncertain Significance: Hypohidrotic ectodermal dysplasia 236,482,661(+) T/C
NM_145861.4(EDARADD):c.*12T>C 		THREE_PRIME_UTR
874271 Benign: Hypohidrotic ectodermal dysplasia 236,484,262(+) T/C
NM_145861.4(EDARADD):c.*1613T>C 		THREE_PRIME_UTR
874272 Benign: Hypohidrotic ectodermal dysplasia 236,484,371(+) C/T
NM_145861.4(EDARADD):c.*1722C>T 		THREE_PRIME_UTR
875147 Uncertain Significance: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 236,483,207(+) C/T
NM_145861.4(EDARADD):c.*558C>T 		THREE_PRIME_UTR

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

Variant ID Type Subtype PubMed ID
dgv104e199 CNV deletion 23128226
dgv303n106 CNV deletion 24896259
dgv591n100 CNV gain 25217958
dgv60n27 CNV gain 19166990
esv2666021 CNV deletion 23128226
esv2725418 CNV deletion 23290073
esv2725429 CNV deletion 23290073
esv2762227 CNV gain 21179565
esv2763410 CNV gain 21179565
esv28853 CNV gain 19812545
esv3548900 CNV deletion 23714750
esv3548911 CNV deletion 23714750
esv3548922 CNV deletion 23714750
esv3589220 CNV loss 21293372
esv5800 CNV loss 19470904
nsv1005877 CNV gain 25217958
nsv1012436 CNV loss 25217958
nsv1069423 CNV deletion 25765185
nsv1115041 CNV deletion 24896259
nsv1127065 CNV deletion 24896259
nsv1142081 CNV tandem duplication 24896259
nsv1147720 CNV deletion 26484159
nsv159414 CNV deletion 16902084
nsv477568 CNV novel sequence insertion 20440878
nsv516855 CNV gain 19592680
nsv549394 CNV gain 21841781
nsv549401 CNV loss 21841781
nsv549402 CNV loss 21841781
nsv549403 CNV gain 21841781
nsv820827 CNV deletion 20802225
nsv958712 CNV deletion 24416366

Variation tolerance for EDARADD Gene

Residual Variation Intolerance Score: 44.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.10; 38.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EDARADD Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for EDARADD Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

EDAD_HUMAN
  • Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant (ECTD11A) [MIM:614940]: 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:17354266, ECO:0000269 PubMed:20979233}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD11B) [MIM:614941]: 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:11780064, ECO:0000269 PubMed:17354266, ECO:0000269 PubMed:20222921}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for EDARADD

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 EDARADD: view

No data available for Genatlas for EDARADD Gene

Publications for EDARADD Gene

  1. Gene defect in ectodermal dysplasia implicates a death domain adapter in development. (PMID: 11780064) Headon DJ … Overbeek PA (Nature 2001) 2 3 4 74
  2. Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases. (PMID: 20222921) Chassaing N … Calvas P (The British journal of dermatology 2010) 3 4 23
  3. Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. (PMID: 17354266) Bal E … Smahi A (Human mutation 2007) 4 23 74
  4. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. (PMID: 20979233) Cluzeau C … Smahi A (Human mutation 2011) 3 4
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4

ExternalLinks

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