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 |
|---|---|---|---|
| RS1057517882 | Health Risk | Conflicting classifications of pathogenicity | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1085307599 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1168030930 | Health Risk | Conflicting classifications of pathogenicity | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS132630309 | Health Risk | Conflicting classifications of pathogenicity | Hypohidrotic X-linked ectodermal dysplasia, EDA-related disorder, Hypohidrotic X-linked ectodermal dysplasia |
| RS132630315 | Health Risk | Conflicting classifications of pathogenicity | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1326976532 | Health Risk | Conflicting classifications of pathogenicity | Hypohidrotic X-linked ectodermal dysplasia, Inborn genetic diseases, Hypohidrotic X-linked ectodermal dysplasia |
| RS140642493 | Health Risk | Conflicting classifications of pathogenicity | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS144403117 | Health Risk | Conflicting classifications of pathogenicity | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1556098806 | Health Risk | Conflicting classifications of pathogenicity | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1569407150 | Health Risk | Conflicting classifications of pathogenicity | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2020256932 | Health Risk | Conflicting classifications of pathogenicity | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2147516257 | Health Risk | Conflicting classifications of pathogenicity | Hypohidrotic X-linked ectodermal dysplasia, Asphyxiating thoracic dystrophy 3, Hypohidrotic X-linked ectodermal dysplasia |
| RS2520339340 | Health Risk | Conflicting classifications of pathogenicity | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS370406516 | Health Risk | Conflicting classifications of pathogenicity | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS397516663 | Health Risk | Conflicting classifications of pathogenicity | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS397516678 | Health Risk | Conflicting classifications of pathogenicity | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS727504750 | Health Risk | Conflicting classifications of pathogenicity | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS746523921 | Health Risk | Conflicting classifications of pathogenicity | Hypohidrotic X-linked ectodermal dysplasia, Inborn genetic diseases, Hypohidrotic X-linked ectodermal dysplasia |
| RS766810445 | Health Risk | Conflicting classifications of pathogenicity | Hypohidrotic X-linked ectodermal dysplasia, Inborn genetic diseases, Hypohidrotic X-linked ectodermal dysplasia |
| RS781394318 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1057518211 | Health Risk | Likely pathogenic | — |
| RS1057520742 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1064793105 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1064793106 | Health Risk | Likely pathogenic | Thyroid cancer, nonmedullary, 1 |
| RS1208076212 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS132630308 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Tooth agenesis, selective |
| RS132630311 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS132630317 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1416551006 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1556039084 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1556110195 | Health Risk | Likely pathogenic | — |
| RS1569272194 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1569404950 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1602221926 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1602564282 | Health Risk | Likely pathogenic | — |
| RS1602614410 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1602624745 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1602625000 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1791938725 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1931942632 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2020138975 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2020256386 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, See cases, Hypohidrotic X-linked ectodermal dysplasia |
| RS2147197882 | Health Risk | Likely pathogenic | — |
| RS2147511758 | Health Risk | Likely pathogenic | — |
| RS2147516240 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2147518971 | Health Risk | Likely pathogenic | — |
| RS2147519167 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2147519270 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Tooth agenesis, selective |
| RS2147519411 | Health Risk | Likely pathogenic | — |
| RS2147519482 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |