Gene: EDARADD
Alternate names for this Gene: ECTD11A|ECTD11B|ED3|EDA3
Gene Summary: 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.
Gene is located in Chromosome: 1
Location in Chromosome : 1q42.3-q43
Description of this Gene: EDAR associated death domain
Type of Gene: protein-coding
rs181126208 in
EDARADD gene and
Diabetes Mellitus, Non-Insulin-Dependent
PMID 28736931 2018 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes.
rs121908116 in
EDARADD gene and
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
PMID 20979233 2011 Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
PMID 17354266 2007 Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.
rs74315309 in
EDARADD gene and
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
PMID 20222921 2010 Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases.
PMID 11780064 2002 Gene defect in ectodermal dysplasia implicates a death domain adapter in development.
PMID 17354266 2007 Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.
rs12117927 in
EDARADD gene and
Hypothyroidism
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs181126208 in
EDARADD gene and
response to simvastatin
PMID 28736931 2018 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes.