PIEZO1 Chromosome 16
Piezo type mechanosensitive ion channel component 1 (Er blood group)
Upload your DNA to see your personal genotypes for variants in PIEZO1.
What This Gene Does
The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015]
Gene Info
Gene Group
"Blood group antigens|MicroRNA protein coding host genes|Piezo type mechanosensitive ion channel components"
Locus Type
gene with protein product
Location
16q24.3
Ensembl
ENSG00000103335
Associated Conditions (20)
Inborn genetic diseases
Lymphatic malformation 6
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
PIEZO1-related disorder
Non-immune hydrops fetalis
Pancytopenia
Malignant tumor of esophagus
Familial cancer of breast
Blood group
ER
Hydrops fetalis
ER BLOOD GROUP SYSTEM
ER(a-b-)
Polyhydramnios
Thickened nuchal skin fold
Sarcoma
Ovarian serous cystadenocarcinoma
Thymoma
Cervical cancer
Diffuse lymphatic malformation
Key Variants
RS1003536346
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1004130638
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1008064947
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1018199395
Conflicting classifications of pathogenicity
Lymphatic malformation 6, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6
Health Risk
RS1021076058
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1030312028
Conflicting classifications of pathogenicity
Health Risk
RS1040063411
Conflicting classifications of pathogenicity
PIEZO1-related disorder, PIEZO1-related disorder
Health Risk
RS1046080253
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1052196774
Conflicting classifications of pathogenicity
PIEZO1-related disorder, PIEZO1-related disorder
Health Risk
RS1056843521
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS114507258
Conflicting classifications of pathogenicity
PIEZO1-related disorder, PIEZO1-related disorder
Health Risk
RS115799619
Conflicting classifications of pathogenicity
PIEZO1-related disorder, PIEZO1-related disorder
Health Risk
All Variants (390)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS868591838 | Health Risk | Likely pathogenic | Lymphatic malformation 6, Lymphatic malformation 6 |
| RS922414644 | Health Risk | Likely pathogenic | Lymphatic malformation 6, Lymphatic malformation 6 |
| RS990897688 | Health Risk | Likely pathogenic | — |
| RS1046139839 | Health Risk | Pathogenic | — |
| RS1064796912 | Health Risk | Pathogenic | — |
| RS1163772841 | Health Risk | Pathogenic | Lymphatic malformation 6, Lymphatic malformation 6 |
| RS1166469802 | Health Risk | Pathogenic | — |
| RS1201505647 | Health Risk | Pathogenic | — |
| RS1235747033 | Health Risk | Pathogenic | — |
| RS1567675655 | Health Risk | Pathogenic | — |
| RS1567676501 | Health Risk | Pathogenic | — |
| RS1904304634 | Health Risk | Pathogenic | Inborn genetic diseases, Lymphatic malformation 6, Inborn genetic diseases |
| RS2142751200 | Health Risk | Pathogenic | — |
| RS2142764905 | Health Risk | Pathogenic | — |
| RS2507842884 | Health Risk | Pathogenic | — |
| RS2507857689 | Health Risk | Pathogenic | — |
| RS2507869911 | Health Risk | Pathogenic | Lymphatic malformation 6, Lymphatic malformation 6 |
| RS2507876961 | Health Risk | Pathogenic | — |
| RS2507899500 | Health Risk | Pathogenic | Lymphatic malformation 6, Lymphatic malformation 6 |
| RS587776990 | Health Risk | Pathogenic | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema |
| RS757428415 | Health Risk | Pathogenic | — |
| RS759026521 | Health Risk | Pathogenic | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema |
| RS774561483 | Health Risk | Pathogenic | Lymphatic malformation 6, Lymphatic malformation 6 |
| RS869025596 | Health Risk | Pathogenic | Lymphatic malformation 6, Lymphatic malformation 6 |
| RS869025597 | Health Risk | Pathogenic | Lymphatic malformation 6, Lymphatic malformation 6 |
| RS869025598 | Health Risk | Pathogenic | Lymphatic malformation 6, Lymphatic malformation 6 |
| RS869025599 | Health Risk | Pathogenic | Lymphatic malformation 6, Lymphatic malformation 6 |
| RS869025600 | Health Risk | Pathogenic | Lymphatic malformation 6, Lymphatic malformation 6 |
| RS869025601 | Health Risk | Pathogenic | Lymphatic malformation 6, Lymphatic malformation 6 |
| RS934897228 | Health Risk | Pathogenic | Lymphatic malformation 6, Lymphatic malformation 6 |
| RS1027603469 | Health Risk | Pathogenic/Likely pathogenic | PIEZO1-related disorder, PIEZO1-related disorder |
| RS1441826695 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1597457977 | Health Risk | Pathogenic/Likely pathogenic | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema |
| RS2142820621 | Health Risk | Pathogenic/Likely pathogenic | Non-immune hydrops fetalis, Non-immune hydrops fetalis |
| RS2507916894 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS587776989 | Health Risk | Pathogenic/Likely pathogenic | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema |
| RS587776991 | Health Risk | Pathogenic/Likely pathogenic | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema |
| RS72811487 | Health Risk | Pathogenic/Likely pathogenic | ER BLOOD GROUP SYSTEM, ER(a-b-), Lymphatic malformation 6 |
| RS776709730 | Health Risk | Pathogenic/Likely pathogenic | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema |
| RS914435870 | Health Risk | Pathogenic/Likely pathogenic | Hydrops fetalis, Thickened nuchal skin fold, Hydrops fetalis |