BPNT2 Chromosome 8
3'(2'), 5'-bisphosphate nucleotidase 2
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What This Gene Does
This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, Dec 2011]
Associated Conditions (2)
Chondrodysplasia with joint dislocations
gPAPP type
Key Variants
RS148820865
Conflicting classifications of pathogenicity
Chondrodysplasia with joint dislocations, gPAPP type, Chondrodysplasia with joint dislocations
Health Risk
RS34467829
Conflicting classifications of pathogenicity
Chondrodysplasia with joint dislocations, gPAPP type, Chondrodysplasia with joint dislocations
Health Risk
RS372925433
Conflicting classifications of pathogenicity
Chondrodysplasia with joint dislocations, gPAPP type, Chondrodysplasia with joint dislocations
Health Risk
RS772424020
Conflicting classifications of pathogenicity
Chondrodysplasia with joint dislocations, gPAPP type, Chondrodysplasia with joint dislocations
Health Risk
RS1554537963
Likely pathogenic
Health Risk
RS1805889752
Likely pathogenic
Chondrodysplasia with joint dislocations, gPAPP type, Chondrodysplasia with joint dislocations
Health Risk
RS2487082948
Likely pathogenic
Chondrodysplasia with joint dislocations, gPAPP type, Chondrodysplasia with joint dislocations
Health Risk
RS1293288101
Pathogenic
Health Risk
RS2129205425
Pathogenic
Chondrodysplasia with joint dislocations, gPAPP type, Chondrodysplasia with joint dislocations
Health Risk
RS2129205437
Pathogenic
Health Risk
RS387907101
Pathogenic
Chondrodysplasia with joint dislocations, gPAPP type, Chondrodysplasia with joint dislocations
Health Risk
RS387907102
Pathogenic
Chondrodysplasia with joint dislocations, gPAPP type, Chondrodysplasia with joint dislocations
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148820865 | Health Risk | Conflicting classifications of pathogenicity | Chondrodysplasia with joint dislocations, gPAPP type, Chondrodysplasia with joint dislocations |
| RS34467829 | Health Risk | Conflicting classifications of pathogenicity | Chondrodysplasia with joint dislocations, gPAPP type, Chondrodysplasia with joint dislocations |
| RS372925433 | Health Risk | Conflicting classifications of pathogenicity | Chondrodysplasia with joint dislocations, gPAPP type, Chondrodysplasia with joint dislocations |
| RS772424020 | Health Risk | Conflicting classifications of pathogenicity | Chondrodysplasia with joint dislocations, gPAPP type, Chondrodysplasia with joint dislocations |
| RS1554537963 | Health Risk | Likely pathogenic | — |
| RS1805889752 | Health Risk | Likely pathogenic | Chondrodysplasia with joint dislocations, gPAPP type, Chondrodysplasia with joint dislocations |
| RS2487082948 | Health Risk | Likely pathogenic | Chondrodysplasia with joint dislocations, gPAPP type, Chondrodysplasia with joint dislocations |
| RS1293288101 | Health Risk | Pathogenic | — |
| RS2129205425 | Health Risk | Pathogenic | Chondrodysplasia with joint dislocations, gPAPP type, Chondrodysplasia with joint dislocations |
| RS2129205437 | Health Risk | Pathogenic | — |
| RS387907101 | Health Risk | Pathogenic | Chondrodysplasia with joint dislocations, gPAPP type, Chondrodysplasia with joint dislocations |
| RS387907102 | Health Risk | Pathogenic | Chondrodysplasia with joint dislocations, gPAPP type, Chondrodysplasia with joint dislocations |
| RS387907103 | Health Risk | Pathogenic | Chondrodysplasia with joint dislocations, gPAPP type, Chondrodysplasia with joint dislocations |
| RS724160003 | Health Risk | Pathogenic | Chondrodysplasia with joint dislocations, gPAPP type, Chondrodysplasia with joint dislocations |