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 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]
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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
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 | -- |
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 |
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 |
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 |
|
|