BPNT2
Bisphosphate 3'-Nucleotidase 2
Gene Information Card
| Symbol | BPNT2 |
|---|---|
| Full Name | Bisphosphate 3'-Nucleotidase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q21.13 |
| NCBI Gene ID | 54928 ncbi.nlm.nih.gov/gene/54928 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q9H227 |
| OMIM ID | 610681 |
| HGNC ID | 26019 |
| Aliases | IMPase 2, IMP 3'(2'),5'-bisphosphate nucleotidase 2, 3'(2'),5'-bisphosphate nucleotidase 2 |
Description
BPNT2 encodes bisphosphate 3'-nucleotidase 2, an enzyme that catalyzes the dephosphorylation of 3'(2'),5'-bisphosphate nucleosides, including 3'-phosphoadenosine 5'-phosphate (PAP) and inositol 1,4-bisphosphate. This activity is essential for sulfate metabolism and phosphoinositide signaling. The gene is located on chromosome 8q21.13 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| BPNT2-related disorder (autosomal recessive intellectual disability) | Loss-of-function mutations impair PAP phosphatase activity, disrupting sulfate metabolism and neuronal function | ClinVar, OMIM |
| Sulfate metabolism dysfunction | Deficient PAP hydrolysis leads to accumulation of PAP, inhibiting sulfotransferases | UniProt, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 10.1 | Medium |
| Testis | 15.2 | Medium |
| Heart | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| HeLa | 9.5 | Moderate |
| K562 | 7.2 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.307C>T (p.Arg103*) | Nonsense | Rare | Loss of function; associated with intellectual disability |
| c.494G>A (p.Arg165His) | Missense | Rare | Reduced phosphatase activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish PAP phosphatase activity lead to loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • bisphosphoglycerate 3'-phosphatase activity | • inositol monophosphate 3-phosphatase activity |
| • magnesium ion binding | • 3'(2') |
| • 5'-bisphosphate nucleotidase activity | • cytosol |
| • nucleus |
Pathways
• Sulfate assimilation
• Inositol phosphate metabolism
• Phosphatidylinositol signaling system
Protein Summary
BPNT2 is a 307-amino acid protein belonging to the inositol monophosphatase family. It functions as a homodimer and requires magnesium for activity. The enzyme dephosphorylates PAP to AMP, regulating sulfate conjugation, and also acts on inositol bisphosphates, linking it to phosphoinositide signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BPNT2 Knockout HEK293 Cell Line | EDJ-KQ1691 | Human | 54928 | Details Get a Quote |
| BPNT2 Knockout HeLa Cell Line | EDJ-KQ20145 | Human | 54928 | Details Get a Quote |
| BPNT2 Knockout A-549 Cell Line | EDJ-KQ21493 | Human | 54928 | Details Get a Quote |
| BPNT2 Knockout HCT 116 Cell Line | EDJ-KQ21494 | Human | 54928 | Details Get a Quote |
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