InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EDARADD

Summary

InnateDB Protein

IDBP-107600.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EDARADD

Protein Name

EDAR-associated death domain

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000352320

InnateDB Gene

IDBG-107598 (EDARADD)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:11882293}.

Subcellular Localization

Cytoplasm {ECO:0000305}.

Disease Associations

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:0000269PubMed:17354266, ECO:0000269PubMed: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:0000269PubMed:11780064, ECO:0000269PubMed:20222921}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Detected in adult pancreas, placenta and fetal skin, and at lower levels in lung, thymus, prostate and testis.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.