Free for academic non-profit institutions. Other users need a Commercial license
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
External Ids for EDARADD Gene
- HGNC: 14341
- Entrez Gene: 128178
- Ensembl: ENSG00000186197
- OMIM: 606603
- UniProtKB: Q8WWZ3
Previous GeneCards Identifiers for EDARADD Gene
- GC01P234691
- GC01P232012
- GC01P232808
- GC01P233598
- GC01P232884
- GC01P232885
- GC01P236511
- GC01P207012
Summaries 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 Cytokine Signaling in Immune system.
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.
Additional gene information for EDARADD Gene
- HGNC(14341)
- Entrez Gene(128178)
- Ensembl(ENSG00000186197)
- OMIM(606603)
- UniProtKB(Q8WWZ3)
- Open Targets Platform(ENSG00000186197)
- Monarch Initiative
- Search for EDARADD at DataMed
- Search for EDARADD at HumanCyc
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
Promoters and enhancers for EDARADD Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
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
Genomic Locations for EDARADD Gene
- chr1:236,348,257-236,502,915
- (GRCh38/hg38)
- Size:
- 154,659 bases
- Orientation:
- Plus strand
- chr1:236,511,562-236,648,214
- (GRCh37/hg19)
- 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:
-
- 1q42.3-q43 by HGNC
- 1q42.3-q43 by Entrez Gene
- 1q42.3 by Ensembl
EDARADD Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for EDARADD Gene
Proteins for EDARADD Gene
-
Protein details for EDARADD Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8WWZ3-EDAD_HUMAN
- Recommended name:
- Ectodysplasin-A receptor-associated adapter protein
- Protein Accession:
- Q8WWZ3
- 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.
Protein Expression for EDARADD Gene
Post-translational modifications for EDARADD Gene
Other Protein References for EDARADD Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-EDARADD monoclonal antibody
- Novus Biologicals Antibodies for EDARADD
- Invitrogen Antibodies for EDARADD (AFLGC-EDARADD)
- antibodies-online: Show 8 available EDARADD Antibodies ranked by validation data
- Compare Top EDARADD Antibodies
-
Quality Products:
-
Boster Bio Antibodies for EDARADD
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for EDARADD
- Origene Custom Protein Services for EDARADD
- antibodies-online: Show 4 available EDARADD Proteins ranked by validation data
- Compare Top EDARADD Proteins
-
Quality Products:
-
Signalway Proteins for EDARADD
Assay Products
- antibodies-online: Show 4 available EDARADD Elisa Kits ranked by validation data
- Compare Top EDARADD Elisa Kits
-
Quality Products:
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)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for EDARADD Gene
Function for EDARADD Gene
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 25416956 |
Phenotypes for EDARADD Gene
- MGI mutant phenotypes for EDARADD:
-
inferred from 5 alleles
- nervous system phenotype
- respiratory system phenotype
- behavior/neurological phenotype
- mortality/aging
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- limbs/digits/tail phenotype
- hearing/vestibular/ear phenotype
- skeleton phenotype
- hematopoietic system phenotype
- integument phenotype
- pigmentation phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for EDARADD:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for EDARADD - Select products 50% OFF >
- * EDARADD CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for EDARADD
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EDARADD
-
Santa Cruz Biotechnology (SCBT) CRISPR for EDARADD
miRNA for EDARADD Gene
- miRTarBase miRNAs that target EDARADD
-
- hsa-miR-18a-3p (MIRT040816)
- hsa-miR-378a-3p (MIRT043891)
- hsa-miR-552-3p (MIRT186097)
- hsa-miR-764 (MIRT186098)
- hsa-miR-4436a (MIRT186099)
- hsa-miR-5000-3p (MIRT186100)
- hsa-miR-4674 (MIRT456952)
- hsa-miR-4639-5p (MIRT456953)
- hsa-miR-4437 (MIRT456954)
- mmu-miR-466f (MIRT587346)
- mmu-miR-467e-5p (MIRT587347)
- mmu-miR-467h (MIRT587348)
- mmu-miR-208a-5p (MIRT593895)
- mmu-miR-129-5p (MIRT593896)
- mmu-miR-669n (MIRT593897)
- mmu-miR-5129-5p (MIRT593898)
- mmu-miR-3067-5p (MIRT593899)
- mmu-miR-693-3p (MIRT594473)
- mmu-miR-1981-5p (MIRT595704)
- mmu-miR-1971 (MIRT595705)
- mmu-miR-3101-5p (MIRT599098)
- mmu-miR-362-3p (MIRT599099)
- mmu-miR-329-3p (MIRT599100)
- mmu-miR-466f-3p (MIRT599101)
- mmu-miR-3089-5p (MIRT599102)
- mmu-miR-1195 (MIRT599103)
- hsa-miR-6838-3p (MIRT638787)
- hsa-miR-3686 (MIRT638788)
- hsa-miR-4284 (MIRT638789)
- hsa-miR-103a-2-5p (MIRT638790)
- hsa-miR-3182 (MIRT638791)
- hsa-miR-4772-3p (MIRT638792)
- hsa-miR-4638-5p (MIRT638793)
- hsa-miR-1307-3p (MIRT638794)
- hsa-miR-1304-3p (MIRT638795)
- hsa-miR-6741-3p (MIRT638796)
- hsa-miR-6890-3p (MIRT638797)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EDARADD
- Browse OriGene Inhibitory RNA Products For EDARADD
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EDARADD
Clone Products
- Applied Biological Materials (abm): Clones for EDARADD - Select products 50% OFF >
- * EDARADD as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for EDARADD
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EDARADD
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| extracellular | 2 |
| nucleus | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
- Cytosol (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for EDARADD Gene
Pathways by source for EDARADD Gene
4 Reactome pathways for EDARADD Gene
1 KEGG pathway for EDARADD Gene
Interacting Proteins for EDARADD Gene
Selected Interacting proteins:
Q8WWZ3-EDAD_HUMAN
ENSP00000335076
for EDARADD Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for EDARADD
| 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 | -- |
No data available for SIGNOR curated interactions for EDARADD Gene
Transcripts for EDARADD Gene
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 :
-
- ENST00000637660 2803 nts (view in UCSC)
- ENST00000439430 658 nts (view in UCSC)
- ENST00000334232 3088 nts (view in UCSC)
- ENST00000359362 3116 nts (view in UCSC)
- ENST00000642595 670 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for EDARADD - Select products 50% OFF >
- * EDARADD CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for EDARADD
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EDARADD
-
Santa Cruz Biotechnology (SCBT) CRISPR for EDARADD
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EDARADD
- Browse OriGene Inhibitory RNA Products For EDARADD
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EDARADD
Clone Products
- Applied Biological Materials (abm): Clones for EDARADD - Select products 50% OFF >
- * EDARADD as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for EDARADD
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EDARADD
Relevant External Links for EDARADD Gene
- GeneLoc Exon Structure for
- EDARADD
Expression for EDARADD Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Tooth (Integumentary System)
- Secondary Enamel Knot Cells Enamel Knot
- Primary Enamel Knot Cells Enamel Knot
-
Hair (Integumentary System)
- Primary Hair Placode Cells Hair Follicle
-
Epithelial Cells
- Primary Hair Placode Cells Hair Follicle
- Gut Tube (Gastrointestinal Tract)
- Kidney (Urinary System)
mRNA differential expression in normal tissues according to GTEx for EDARADD Gene
This gene is overexpressed in Bladder (x6.7) and Stomach (x4.6).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EDARADD
SOURCE GeneReport for Unigene cluster for EDARADD Gene:
Hs.352224mRNA 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(4.5)
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
Primer Products
-
OriGene qPCR primer pairs for EDARADD
-
OriGene qPCR primer pairs and template standards for EDARADD
Gene Expression Assay Products
Orthologs for EDARADD Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | EDARADD 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | EDARADD 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | EDARADD 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Edaradd 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Edaradd 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | EDARADD 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | EDARADD 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | EDARADD 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100490133 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | edaradd 30 31 |
|
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
No data available for Paralogs for EDARADD Gene
Variants for EDARADD Gene
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 |
|---|---|---|---|---|---|
| 722615 | Likely Benign: not provided | 236,394,459(+) | G/A | SYNONYMOUS_VARIANT | |
| 741782 | Likely Benign: not provided | 236,468,257(+) | C/T | SYNONYMOUS_VARIANT | |
| 779586 | Likely Benign: not provided | 236,409,284(+) | A/G | INTRON_VARIANT | |
| 793035 | Likely Benign: not provided | 236,482,361(+) | C/T | SYNONYMOUS_VARIANT | |
| 806390 | Uncertain Significance: not provided | 236,482,489(+) | C/A | MISSENSE_VARIANT |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EDARADD Gene
Disorders for EDARADD Gene
(20) MalaCards diseases for EDARADD Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive |
|
|
| ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant |
|
|
| ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant |
|
|
| hypohidrotic ectodermal dysplasia autosomal recessive |
|
|
| ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive |
|
Search EDARADD in MalaCards
View complete list of genes associated with diseases
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 mutations 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 mutations affecting the gene represented in this entry.
Additional Disease Information for EDARADD
No data available for Genatlas for EDARADD Gene
Publications for EDARADD Gene
- 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
- Gene defect in ectodermal dysplasia implicates a death domain adapter in development. (PMID: 11780064) Headon DJ … Overbeek PA (Nature 2001) 2 3 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
- Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. (PMID: 17354266) Bal E … Smahi A (Human mutation 2007) 4 23
- The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
ExternalLinks
Products for EDARADD Gene
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for EDARADD
- Origene Custom Protein Services for EDARADD
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EDARADD
- Browse OriGene Inhibitory RNA Products For EDARADD
- OriGene qPCR primer pairs for EDARADD
- OriGene qPCR primer pairs and template standards for EDARADD
- OriGene CRISPR knockouts for EDARADD
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For EDARADD
- Sino Biological Human cDNA Clone for EDARADD
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for EDARADD
- Novus Biologicals proteins and lysates for EDARADD
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Invitrogen Antibodies for EDARADD (AFLGC-EDARADD)
- VectorBuilder Custom and pre-made DNA vectors for EDARADD (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for EDARADD (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for EDARADD (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for EDARADD CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for EDARADD
- antibodies-online: Show 8 available EDARADD Antibodies ranked by validation data
- Compare Top EDARADD Antibodies
- Quality Products:
- antibodies-online: Show 4 available EDARADD Elisa Kits ranked by validation data
- Compare Top EDARADD Elisa Kits
- Quality Products:
- antibodies-online: Show 4 available EDARADD Proteins ranked by validation data
- Compare Top EDARADD Proteins
- Quality Products:
- Horizon Cell Lines for EDARADD
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EDARADD
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EDARADD
- Search GeneCopoeia for miRNA 3'UTR Target clone products for EDARADD
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EDARADD
- Boster Bio Antibodies for EDARADD
- Browse Boster Bio ELISA Kits
- Signalway Proteins for EDARADD
Sources for EDARADD Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB