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 |
|---|---|---|---|
| RS2147511678 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, EDA-related disorder, Hypohidrotic X-linked ectodermal dysplasia |
| RS2147511696 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2147516275 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Thyroid cancer, nonmedullary |
| RS2147516523 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2147516557 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2147516572 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2147518914 | Health Risk | Pathogenic | — |
| RS2147519384 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2519669835 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2519669860 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2519670851 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2519671247 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2520242340 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2520242345 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2520334457 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2520335192 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2520337535 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2520337597 | Health Risk | Pathogenic | — |
| RS2520343206 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2520343256 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2520343370 | Health Risk | Pathogenic | Tooth agenesis, selective, 2 |
| RS2520343398 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2520343419 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2520343480 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2520343545 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2520346923 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2520346934 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2520347265 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2520347360 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS397516656 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS397516659 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Tooth agenesis, selective |
| RS397516660 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS397516661 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS397516662 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Anhidrotic ectodermal dysplasia, Thyroid cancer |
| RS397516664 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS397516665 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Tooth agenesis, selective |
| RS397516666 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS397516667 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS397516670 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS397516672 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, EDA-related disorder, Hypohidrotic X-linked ectodermal dysplasia |
| RS397516675 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS397516676 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS397516677 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Anhidrotic ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS727503007 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS727503008 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS727503009 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS727503010 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS727503011 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS727504417 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS727504537 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |