EDA Chromosome X
Ectodysplasin A
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What This Gene Does
The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Tumor necrosis factor superfamily|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
Xq13.1
Ensembl
ENSG00000158813
Associated Conditions (16)
Hypohidrotic X-linked ectodermal dysplasia
Inborn genetic diseases
EDA-related disorder
Asphyxiating thoracic dystrophy 3
Thyroid cancer
nonmedullary
1
Tooth agenesis
selective
X-linked
See cases
Ectodermal dysplasia
2
Anhidrotic ectodermal dysplasia
Nonpapillary renal cell carcinoma
Hypodontia
Key Variants
RS1057517882
Conflicting classifications of pathogenicity
Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
Health Risk
RS1085307599
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1168030930
Conflicting classifications of pathogenicity
Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
Health Risk
RS132630309
Conflicting classifications of pathogenicity
Hypohidrotic X-linked ectodermal dysplasia, EDA-related disorder, Hypohidrotic X-linked ectodermal dysplasia
Health Risk
RS132630315
Conflicting classifications of pathogenicity
Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
Health Risk
RS1326976532
Conflicting classifications of pathogenicity
Hypohidrotic X-linked ectodermal dysplasia, Inborn genetic diseases, Hypohidrotic X-linked ectodermal dysplasia
Health Risk
RS140642493
Conflicting classifications of pathogenicity
Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
Health Risk
RS144403117
Conflicting classifications of pathogenicity
Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
Health Risk
RS1556098806
Conflicting classifications of pathogenicity
Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
Health Risk
RS1569407150
Conflicting classifications of pathogenicity
Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
Health Risk
RS2020256932
Conflicting classifications of pathogenicity
Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
Health Risk
RS2147516257
Conflicting classifications of pathogenicity
Hypohidrotic X-linked ectodermal dysplasia, Asphyxiating thoracic dystrophy 3, Hypohidrotic X-linked ectodermal dysplasia
Health Risk
All Variants (230)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1556098384 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1556098553 | Health Risk | Pathogenic | — |
| RS1556098570 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, EDA-related disorder, Hypohidrotic X-linked ectodermal dysplasia |
| RS1556098733 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1556098978 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1556110308 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1556110934 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1569272203 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1569272328 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Tooth agenesis, selective |
| RS1569272528 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1569384962 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1569404780 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1569404873 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1569406514 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1569407346 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1602221405 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1602614385 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1602618255 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1602618398 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1602618442 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1602622972 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS191378148 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1931920527 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1931938364 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1931956776 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2019017595 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2019019815 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2020137674 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2020139065 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2020140911 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2020255486 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2147196982 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2147197808 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2147197831 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2147197866 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2147198269 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2147419086 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2147419276 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2147503858 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2147509524 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2147509613 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2147509622 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2147509660 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2147509712 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2147509771 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2147509775 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2147509825 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2147509853 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2147509886 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2147509932 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |