BPNT2 (3'(2'), 5'-bisphosphate nucleotidase 2)

Gene

• Entrez ID: 54928
• Gene name: 3'(2'), 5'-bisphosphate nucleotidase 2
• Gene symbol: BPNT2
• Synonyms: GPAPP, IMP 3, IMP-3, IMPA3, IMPAD1
• Chromosome: 8
• Chromosome location: 8q12.1
• 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 caus

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387907101	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs387907102	T>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs387907103	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs724160003	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1554537963	AA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IBA	21873635
GO:0001958	Process	Endochondral ossification	IEA
GO:0002063	Process	Chondrocyte development	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005794	Component	Golgi apparatus	IDA	18695242
GO:0005796	Component	Golgi lumen	TAS
GO:0005829	Component	Cytosol	IDA
GO:0008254	Function	3'-nucleotidase activity	IBA	21873635
GO:0008441	Function	3'(2'),5'-bisphosphate nucleotidase activity	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0012505	Component	Endomembrane system	IBA	21873635
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0030204	Process	Chondroitin sulfate metabolic process	IEA
GO:0032588	Component	Trans-Golgi network membrane	ISS
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0046854	Process	Phosphatidylinositol phosphorylation	IEA
GO:0046855	Process	Inositol phosphate dephosphorylation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050427	Process	3'-phosphoadenosine 5'-phosphosulfate metabolic process	TAS
GO:0097657	Function	3',5'-nucleotide bisphosphate phosphatase activity	ISS

Other IDs

• MIM: 614010
• HGNC: 26019
• e!Ensembl: ENSG00000104331

Protein

• UniProt ID: Q9NX62
• Protein name: Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase (Golgi-resident PAP phosphatase) (gPAPP) (EC 3.1.3.7) (3'(2'), 5'-bisphosphate nucleotidase 2) (Inositol monophosphatase domain-containing protein 1) (Myo-inositol monophosphatase A3) (Phosphoaden
• Protein function: Exhibits 3'-nucleotidase activity toward adenosine 3',5'-bisphosphate (PAP), namely hydrolyzes adenosine 3',5'-bisphosphate into adenosine 5'-monophosphate (AMP) and a phosphate. May play a role in the formation of skeletal elements derived thro
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00459	Inositol_P	62 → 355	Inositol monophosphatase family	Family

• Sequence:

  MAPMGIRLSPLGVAVFCLLGLGVLYHLYSGFLAGRFSLFGLGGEPGGGAAGPAAAADGGT
  VDLREMLAVSVLAAVRGGDEVRRVRESNVLHEKSKGKTREGAEDKMTSGDVLSNRKMFYL
  LKTAFPSVQINTEEHVDAADQEVILWDHKIPEDILKEVTTPKEVPAESVTVWIDPLDATQ
  EYTEDLRKYVTTMVCVAVNGKPMLGVIHKPFSEYTAWAMVDGGSNVKARSSYNEKTPRIV
  VSRSHSGMVKQVALQTFGNQTTIIPAGGAGYKVLALLDVPDKSQEKADLYIHVTYIKKWD
  ICAGNAILKALGGHMTTLSGEEISYTGSDGIEGGLLASIRMNHQALVRKLPDLEKTGHK

• Sequence length: 359

Pathways

KEGG:

Sulfur metabolism
Metabolic pathways
Phosphatidylinositol signaling system

Reactome:

Cytosolic sulfonation of small molecules

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Chondrodysplasia with joint dislocations	CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE	rs387907101, rs387907102, rs387907103, rs724160003	21549340, 22887726
Coronal craniosynostosis	Coronal craniosynostosis	rs1566992093

Unknown
Disease name	Disease term	dbSNP ID	References
Dwarfism	Dwarfism
Micrognathism	Micrognathism
Microstomia	Microstomia
Proptosis	Exophthalmos