| Name | 3'(2'), 5'-bisphosphate nucleotidase 2 |
| Description | 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] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n BPNT2 is a Golgi‐resident 3′-nucleotidase that plays a critical role in the sulfur assimilation pathway by hydrolyzing 3′-phosphoadenosine 5′-phosphate (PAP)—the sulfotransferase reaction byproduct—into 5′-adenosine monophosphate (AMP). This enzymatic clearance of PAP is essential to alleviate its inhibitory feedback on Golgi sulfation reactions, thereby ensuring proper sulfation of proteoglycans and glycosaminoglycans. Genetic and biochemical studies in mammalian models have demonstrated that loss of BPNT2 activity, or its inhibition (for instance, by lithium), leads to undersulfation of cartilage extracellular matrix components. Such disruptions are closely linked to chondrodysplasia and related skeletal abnormalities, underscoring BPNT2’s fundamental importance in posttranslational modification processes critical for skeletal development and maintenance. Moreover, the evolutionary conservation of BPNT2 and its sensitivity to monovalent cations highlight its potential as a target for modulating sulfation‐dependent processes in diverse physiological and pathological conditions."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Joshua P Frederick, A Tsahai Tafari, Sheue-Mei Wu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A role for a lithium-inhibited Golgi nucleotidase in skeletal development and sulfation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.0801182105"}], "href": "https://doi.org/10.1073/pnas.0801182105"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18695242"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18695242"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Lisenka E L M Vissers, Ekkehart Lausch, Sheila Unger, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2011.04.002"}], "href": "https://doi.org/10.1016/j.ajhg.2011.04.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21549340"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21549340"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Benjamin H Hudson, John D York "}, {"type": "b", "children": [{"type": "t", "text": "Tissue-specific regulation of 3'-nucleotide hydrolysis and nucleolar architecture."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Adv Biol Regul (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jbior.2013.11.002"}], "href": "https://doi.org/10.1016/j.jbior.2013.11.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24309248"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24309248"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Benjamin H Hudson, John D York "}, {"type": "b", "children": [{"type": "t", "text": "Roles for nucleotide phosphatases in sulfate assimilation and skeletal disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Adv Biol Regul (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.advenzreg.2011.11.002"}], "href": "https://doi.org/10.1016/j.advenzreg.2011.11.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22100882"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22100882"}]}]}]}
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| NCBI Gene ID | 54928 |
| API | |
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| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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BPNT2 has 1,510 functional associations with biological entities spanning 5 categories (functional term, phrase or reference, disease, phenotype or trait, chemical, cell line, cell type or tissue, gene, protein or microRNA) extracted from 32 datasets.
Click the + buttons to view associations for BPNT2 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| CCLE Cell Line Proteomics | Cell lines associated with BPNT2 protein from the CCLE Cell Line Proteomics dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with BPNT2 gene from the CellMarker Gene-Cell Type Associations dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing BPNT2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 | cellular components containing BPNT2 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with BPNT2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by BPNT2 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
| DisGeNET Gene-Disease Associations | diseases associated with BPNT2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with BPNT2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
| GlyGen Glycosylated Proteins | ligands (chemical) binding BPNT2 protein from the GlyGen Glycosylated Proteins dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving BPNT2 gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving BPNT2 gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2023 | cellular components containing BPNT2 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing BPNT2 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GO Molecular Function Annotations 2023 | molecular functions performed by BPNT2 gene from the curated GO Molecular Function Annotations 2023 dataset. | |
| GO Molecular Function Annotations 2025 | molecular functions performed by BPNT2 gene from the curated GO Molecular Function Annotations 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of BPNT2 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GTEx Tissue-Specific Aging Signatures | tissue samples with high or low expression of BPNT2 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
| LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of BPNT2 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
| LINCS L1000 CMAP CRISPR Knockout Consensus Signatures | gene perturbations changing expression of BPNT2 gene from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by BPNT2 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| MoTrPAC Rat Endurance Exercise Training | tissue samples with high or low expression of BPNT2 gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset. | |
| PFOCR Pathway Figure Associations 2023 | pathways involving BPNT2 protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
| Reactome Pathways 2024 | pathways involving BPNT2 protein from the Reactome Pathways 2024 dataset. | |
| Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of BPNT2 gene from the Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of BPNT2 gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset. | |
| Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of BPNT2 gene from the Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of BPNT2 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of BPNT2 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of BPNT2 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of BPNT2 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with BPNT2 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
| WikiPathways Pathways 2024 | pathways involving BPNT2 protein from the WikiPathways Pathways 2024 dataset. | |
