BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2
Gene ID: 54928, updated on 3-Nov-2024Gene type: protein coding
Also known as: GPAPP; IMP 3; IMP-3; IMPA3; IMPAD1
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- Go to complete Gene record for BPNT2
- Go to Variation Viewer for BPNT2 variants
Summary
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
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Chondrodysplasia with joint dislocations, gPAPP type | not available |
Genomic context
- Location:
- 8q12.1
- Sequence:
- Chromosome: 8; NC_000008.11 (56957931..56993867, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for BPNT2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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