PRF1 Chromosome 10
Perforin 1
Upload your DNA to see your personal genotypes for variants in PRF1.
What This Gene Does
This gene encodes a protein with structural similarities to complement component C9 that is important in immunity. This protein forms membrane pores that allow the release of granzymes and subsequent cytolysis of target cells. Whether pore formation occurs in the plasma membrane of target cells or in an endosomal membrane inside target cells is subject to debate. Mutations in this gene are associated with a variety of human disease including diabetes, multiple sclerosis, lymphomas, autoimmune lymphoproliferative syndrome (ALPS), aplastic anemia, and familial hemophagocytic lymphohistiocytosis type 2 (FHL2), a rare and lethal autosomal recessive disorder of early childhood. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
C2 domain containing
Locus Type
gene with protein product
Location
10q22.1
Ensembl
ENSG00000180644
Associated Conditions (17)
Familial hemophagocytic lymphohistiocytosis 2
PRF1-related disorder
Autoinflammatory syndrome
Aplastic anemia
Lymphoma
non-Hodgkin
familial
Inborn genetic diseases
Clear cell carcinoma of kidney
Familial cancer of breast
Gastric cancer
Familial hemophagocytic lymphohistiocytosis
Pelizaeus-Merzbacher disease
Hemophagocytic lymphohistiocytosis
2
susceptibility to
Familial hemophagocytic lymphohistiocytosis type 1
Key Variants
RS112883709
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 2, PRF1-related disorder, Familial hemophagocytic lymphohistiocytosis 2
Health Risk
RS1208723557
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia, Familial hemophagocytic lymphohistiocytosis 2
Health Risk
RS12161733
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 2, Lymphoma, non-Hodgkin
Health Risk
RS138126912
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 2, Inborn genetic diseases, Autoinflammatory syndrome
Health Risk
RS139336186
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome, PRF1-related disorder
Health Risk
RS140787739
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia, Lymphoma
Health Risk
RS141660796
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome, Lymphoma
Health Risk
RS142012387
Conflicting classifications of pathogenicity
Health Risk
RS144004164
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
Health Risk
RS144024245
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 2
Health Risk
RS144926997
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 2, PRF1-related disorder, Familial hemophagocytic lymphohistiocytosis 2
Health Risk
RS145463632
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 2, Inborn genetic diseases, Lymphoma
Health Risk
All Variants (171)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2493482370 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia, Familial hemophagocytic lymphohistiocytosis 2 |
| RS2493484435 | Health Risk | Pathogenic/Likely pathogenic | Aplastic anemia, Familial hemophagocytic lymphohistiocytosis 2, Lymphoma |
| RS2493486780 | Health Risk | Pathogenic/Likely pathogenic | Aplastic anemia, Aplastic anemia |
| RS2493486847 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2 |
| RS550073023 | Health Risk | Pathogenic/Likely pathogenic | Aplastic anemia, Familial hemophagocytic lymphohistiocytosis 2, Lymphoma |
| RS555317258 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia, Familial hemophagocytic lymphohistiocytosis 2 |
| RS746365230 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia, Familial hemophagocytic lymphohistiocytosis 2 |
| RS751161742 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia, Familial hemophagocytic lymphohistiocytosis 2 |
| RS751247865 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis, Aplastic anemia |
| RS752608972 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia, Lymphoma |
| RS752858869 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia, Familial hemophagocytic lymphohistiocytosis 2 |
| RS755737064 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia, Lymphoma |
| RS758110629 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis, Aplastic anemia |
| RS758728749 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia |
| RS766783280 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis 2 |
| RS768849283 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis, Aplastic anemia |
| RS768953378 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia, Familial hemophagocytic lymphohistiocytosis 2 |
| RS776299562 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis, Aplastic anemia |
| RS777345151 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia, Familial hemophagocytic lymphohistiocytosis 2 |
| RS777483971 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 2, Lymphoma, non-Hodgkin |
| RS902124045 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia, Familial hemophagocytic lymphohistiocytosis |