EDAR Chromosome 2
Ectodysplasin A receptor
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What This Gene Does
This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Tumor necrosis factor receptor superfamily
Locus Type
gene with protein product
Location
2q13
Ensembl
ENSG00000135960
Associated Conditions (18)
Ectodermal dysplasia 10A
hypohidrotic/hair/nail type
autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Ectodermal dysplasia 10B
hypohidrotic/hair/tooth type
autosomal recessive
Inborn genetic diseases
Hypohidrotic ectodermal dysplasia
Non-syndromic oligodontia
Ectodermal dysplasia
EDAR-related disorder
Oligodontia
Ectodermal dysplasia 10a
Melanoma
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Ectodermal dysplasia 11B
Key Variants
RS1306259287
Conflicting classifications of pathogenicity
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Health Risk
RS138052931
Conflicting classifications of pathogenicity
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Health Risk
RS146567337
Conflicting classifications of pathogenicity
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
Health Risk
RS151195196
Conflicting classifications of pathogenicity
Non-syndromic oligodontia, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
Health Risk
RS1553444917
Conflicting classifications of pathogenicity
Inborn genetic diseases, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A
Health Risk
RS1553445966
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1696613834
Conflicting classifications of pathogenicity
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
Health Risk
RS1697337524
Conflicting classifications of pathogenicity
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Health Risk
RS370972367
Conflicting classifications of pathogenicity
Hypohidrotic ectodermal dysplasia, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
Health Risk
RS375891208
Conflicting classifications of pathogenicity
Hypohidrotic ectodermal dysplasia, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
Health Risk
RS61761321
Conflicting classifications of pathogenicity
Hypohidrotic ectodermal dysplasia, Non-syndromic oligodontia, Ectodermal dysplasia 10A
Health Risk
RS748806220
Conflicting classifications of pathogenicity
Hypohidrotic ectodermal dysplasia, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
Health Risk
All Variants (84)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1558814135 | Health Risk | Pathogenic | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
| RS1574362082 | Health Risk | Pathogenic | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |
| RS1574368295 | Health Risk | Pathogenic | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |
| RS1696608702 | Health Risk | Pathogenic | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |
| RS1696610594 | Health Risk | Pathogenic | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type |
| RS1696805876 | Health Risk | Pathogenic | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type |
| RS1697322263 | Health Risk | Pathogenic | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
| RS199544410 | Health Risk | Pathogenic | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |
| RS2105371643 | Health Risk | Pathogenic | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |
| RS2105371772 | Health Risk | Pathogenic | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |
| RS2105390143 | Health Risk | Pathogenic | — |
| RS2105390253 | Health Risk | Pathogenic | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |
| RS2470612633 | Health Risk | Pathogenic | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |
| RS2470612710 | Health Risk | Pathogenic | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |
| RS2470612939 | Health Risk | Pathogenic | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |
| RS2470612948 | Health Risk | Pathogenic | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |
| RS2470649168 | Health Risk | Pathogenic | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |
| RS2470664645 | Health Risk | Pathogenic | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |
| RS368841777 | Health Risk | Pathogenic | — |
| RS747806672 | Health Risk | Pathogenic | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type |
| RS773132518 | Health Risk | Pathogenic | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |
| RS773885029 | Health Risk | Pathogenic | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
| RS777022647 | Health Risk | Pathogenic | — |
| RS780424781 | Health Risk | Pathogenic | Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome |
| RS797044435 | Health Risk | Pathogenic | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
| RS797044437 | Health Risk | Pathogenic | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
| RS886039564 | Health Risk | Pathogenic | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type |
| RS121908450 | Health Risk | Pathogenic/Likely pathogenic | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
| RS121908453 | Health Risk | Pathogenic/Likely pathogenic | Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant |
| RS2470612697 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type |
| RS550414401 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type |
| RS557166582 | Health Risk | Pathogenic/Likely pathogenic | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |
| RS797044436 | Health Risk | Pathogenic/Likely pathogenic | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
| RS886039348 | Health Risk | Pathogenic/Likely pathogenic | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |