PPIB Chromosome 15
Peptidylprolyl isomerase B
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What This Gene Does
The protein encoded by this gene is a cyclosporine-binding protein and is mainly located within the endoplasmic reticulum. It is associated with the secretory pathway and released in biological fluids. This protein can bind to cells derived from T- and B-lymphocytes, and may regulate cyclosporine A-mediated immunosuppression. Variants have been identified in this protein that give rise to recessive forms of osteogenesis imperfecta. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
Cyclophilin peptidylprolyl isomerases
Locus Type
gene with protein product
Location
15q22.31
Ensembl
ENSG00000166794
Associated Conditions (4)
Osteogenesis imperfecta
Inborn genetic diseases
Osteogenesis imperfecta type 9
Clear cell carcinoma of kidney
Key Variants
RS200864554
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, Inborn genetic diseases, Osteogenesis imperfecta
Health Risk
RS202059751
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 9, Osteogenesis imperfecta type 9
Health Risk
RS367616150
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 9, Osteogenesis imperfecta, Osteogenesis imperfecta type 9
Health Risk
RS369889089
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 9, Osteogenesis imperfecta type 9
Health Risk
RS549542551
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 9, Osteogenesis imperfecta type 9
Health Risk
RS776724565
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 9, Osteogenesis imperfecta type 9
Health Risk
RS1228817029
Likely pathogenic
Osteogenesis imperfecta, Osteogenesis imperfecta
Health Risk
RS137853866
Likely pathogenic
Osteogenesis imperfecta type 9, Osteogenesis imperfecta, Osteogenesis imperfecta type 9
Health Risk
RS1555496051
Likely pathogenic
Health Risk
RS2140184247
Likely pathogenic
Health Risk
RS878936700
Likely pathogenic
Health Risk
RS121434559
Pathogenic
Osteogenesis imperfecta type 9, Osteogenesis imperfecta type 9
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200864554 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, Inborn genetic diseases, Osteogenesis imperfecta |
| RS202059751 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 9, Osteogenesis imperfecta type 9 |
| RS367616150 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 9, Osteogenesis imperfecta, Osteogenesis imperfecta type 9 |
| RS369889089 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 9, Osteogenesis imperfecta type 9 |
| RS549542551 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 9, Osteogenesis imperfecta type 9 |
| RS776724565 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 9, Osteogenesis imperfecta type 9 |
| RS1228817029 | Health Risk | Likely pathogenic | Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS137853866 | Health Risk | Likely pathogenic | Osteogenesis imperfecta type 9, Osteogenesis imperfecta, Osteogenesis imperfecta type 9 |
| RS1555496051 | Health Risk | Likely pathogenic | — |
| RS2140184247 | Health Risk | Likely pathogenic | — |
| RS878936700 | Health Risk | Likely pathogenic | — |
| RS121434559 | Health Risk | Pathogenic | Osteogenesis imperfecta type 9, Osteogenesis imperfecta type 9 |
| RS137853865 | Health Risk | Pathogenic | Osteogenesis imperfecta type 9, Osteogenesis imperfecta type 9 |
| RS137853867 | Health Risk | Pathogenic | — |
| RS137853869 | Health Risk | Pathogenic | Osteogenesis imperfecta type 9, Osteogenesis imperfecta, Osteogenesis imperfecta type 9 |
| RS199606428 | Health Risk | Pathogenic | Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS398122834 | Health Risk | Pathogenic | Osteogenesis imperfecta type 9, Osteogenesis imperfecta type 9 |
| RS1211592084 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type 9, Osteogenesis imperfecta type 9 |
| RS748284900 | Health Risk | Pathogenic/Likely pathogenic | Clear cell carcinoma of kidney, Clear cell carcinoma of kidney |