Entity Details

Primary name BPNT2
Entity type gene
Source Source Link

Details

PrimaryID54928
RefseqGeneNG_031926
SymbolBPNT2
Name3'(2'), 5'-bisphosphate nucleotidase 2
Chromosome8
Location8q12.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsIMPA3_HUMAN

GO terms

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GOName
GO:0001501 skeletal system development
GO:0001958 endochondral ossification
GO:0002063 chondrocyte development
GO:0005654 nucleoplasm
GO:0005794 Golgi apparatus
GO:0005796 Golgi lumen
GO:0005829 cytosol
GO:0008254 3'-nucleotidase activity
GO:0008441 3'(2'),5'-bisphosphate nucleotidase activity
GO:0009791 post-embryonic development
GO:0012505 endomembrane system
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016604 nuclear body
GO:0030204 chondroitin sulfate metabolic process
GO:0032588 trans-Golgi network membrane
GO:0042733 embryonic digit morphogenesis
GO:0046854 phosphatidylinositol phosphate biosynthetic process
GO:0046855 inositol phosphate dephosphorylation
GO:0046872 metal ion binding
GO:0050427 3'-phosphoadenosine 5'-phosphosulfate metabolic process
GO:0097657 3',5'-nucleotide bisphosphate phosphatase activity

Diseases

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Disease IDSourceNameDescription
614078 OMIMChondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP)A condition consisting of congenital joint dislocations, chondrodysplasia with short stature, micrognathia and cleft palate, and a distinctive face. The disease is caused by variants affecting the gene represented in this entry.