EPAS1 Chromosome 2
Endothelial PAS domain protein 1
Upload your DNA to see your personal genotypes for variants in EPAS1.
What This Gene Does
This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain protein dimerization domain as well as a domain found in proteins in signal transduction pathways which respond to oxygen levels. Mutations in this gene are associated with erythrocytosis familial type 4. [provided by RefSeq, Nov 2009]
Gene Info
Gene Group
"Basic helix-loop-helix proteins|PAS domain containing"
Locus Type
gene with protein product
Location
2p21
Ensembl
ENSG00000116016
Associated Conditions (8)
Erythrocytosis
familial
4
sorafenib response - Toxicity
EPAS1-related disorder
Hepatocellular carcinoma
Inborn genetic diseases
Asphyxiating thoracic dystrophy 3
Key Variants
RS7557402
drug response
Erythrocytosis, familial, 4
Drug Response
RS1021730994
Conflicting classifications of pathogenicity
Erythrocytosis, familial, 4
Health Risk
RS1254793733
Conflicting classifications of pathogenicity
Inborn genetic diseases, Erythrocytosis, familial
Health Risk
RS1392533284
Conflicting classifications of pathogenicity
Inborn genetic diseases, Erythrocytosis, familial
Health Risk
RS141965374
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142534349
Conflicting classifications of pathogenicity
Erythrocytosis, familial, 4
Health Risk
RS144038192
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1456606052
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149676792
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149898744
Conflicting classifications of pathogenicity
Erythrocytosis, familial, 4
Health Risk
RS149994721
Conflicting classifications of pathogenicity
Erythrocytosis, familial, 4
Health Risk
RS150797491
Conflicting classifications of pathogenicity
Erythrocytosis, familial, 4
Health Risk
All Variants (39)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS7557402 | Drug Response | drug response | Erythrocytosis, familial, 4 |
| RS1021730994 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 4 |
| RS1254793733 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Erythrocytosis, familial |
| RS1392533284 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Erythrocytosis, familial |
| RS141965374 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142534349 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 4 |
| RS144038192 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1456606052 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149676792 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149898744 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 4 |
| RS149994721 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 4 |
| RS150797491 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 4 |
| RS199710213 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199997193 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Erythrocytosis, familial |
| RS201500220 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 4 |
| RS2546480744 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS369874127 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS539540390 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 4 |
| RS541354758 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 4 |
| RS574490008 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS61757375 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 4 |
| RS73926269 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 4 |
| RS745977062 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS750515166 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 4 |
| RS752805685 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Asphyxiating thoracic dystrophy 3, Inborn genetic diseases |
| RS755579146 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 4 |
| RS759045547 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Erythrocytosis, familial |
| RS761886735 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 4 |
| RS765366810 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS770783327 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 4 |
| RS776349801 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS777687956 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 4 |
| RS780349023 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Erythrocytosis, familial |
| RS868839389 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS947956425 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 4 |
| RS2546476675 | Health Risk | Likely pathogenic | Erythrocytosis, familial, 4 |
| RS137853036 | Health Risk | Pathogenic | Erythrocytosis, familial, 4 |
| RS137853037 | Health Risk | Pathogenic | Erythrocytosis, familial, 4 |
| RS2103672173 | Health Risk | Pathogenic | Erythrocytosis, familial, 4 |