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 |
|---|---|---|---|
| RS2519669569 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2519669796 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2519670205 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2519670387 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2519670437 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2519670739 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2520242542 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2520242932 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2520334697 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2520334969 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2520335042 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2520335121 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2520335334 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2520343039 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2520343091 | Health Risk | Likely pathogenic | EDA-related disorder, EDA-related disorder |
| RS2520343200 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2520346450 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2520346616 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2520346795 | Health Risk | Likely pathogenic | EDA-related disorder, EDA-related disorder |
| RS2520346836 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2520346963 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2520347019 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS387907197 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS397516657 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS397516671 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS397516679 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Tooth agenesis, selective |
| RS397516681 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS397516682 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, EDA-related disorder, Hypohidrotic X-linked ectodermal dysplasia |
| RS749830948 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS758429613 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS780582849 | Health Risk | Likely pathogenic | — |
| RS876657640 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS876657642 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS982209417 | Health Risk | Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1057517971 | Health Risk | Pathogenic | — |
| RS1131691566 | Health Risk | Pathogenic | — |
| RS1131692034 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS132630310 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS132630312 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Tooth agenesis, selective |
| RS132630314 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Tooth agenesis, selective |
| RS132630316 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS132630318 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS132630319 | Health Risk | Pathogenic | Tooth agenesis, selective, X-linked |
| RS132630320 | Health Risk | Pathogenic | Tooth agenesis, selective, X-linked |
| RS132630321 | Health Risk | Pathogenic | Tooth agenesis, selective, X-linked |
| RS1555972067 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1555972071 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1555972137 | Health Risk | Pathogenic | — |
| RS1556039088 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1556092261 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |