• Gene id: 54928

Gene Summary

• Gene Symbol: BPNT2   Gene   UCSC   Ensembl
• Aliases: GPAPP, IMP 3, IMP-3, IMPA3, IMPAD1
• Gene name: 3'(2'), 5'-bisphosphate nucleotidase 2
• Alternate names: Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase, Golgi 3-prime phosphoadenosine 5-prime phosphate 3-prime phosphatase, IMPase 3, golgi-resident PAP phosphatase, golgi-resident nucleotide phosphatase, inositol monophosphatase domain containing 1, inos,
• Gene location: 8q12.1 (153545805: 153543620)     Exons: 4     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 614010

Protein Summary

• Protein general information: Q9NX62  
  • Name: Golgi resident adenosine 3',5' bisphosphate 3' phosphatase (Golgi resident PAP phosphatase) (gPAPP) (EC 3.1.3.7) (Inositol monophosphatase domain containing protein 1) (Myo inositol monophosphatase A3) (Phosphoadenosine phosphate 3' nucleotidase)
  • Length: 359  
  • Mass: 38681
• Sequence:

  MAPMGIRLSPLGVAVFCLLGLGVLYHLYSGFLAGRFSLFGLGGEPGGGAAGPAAAADGGTVDLREMLAVSVLAAV
  RGGDEVRRVRESNVLHEKSKGKTREGAEDKMTSGDVLSNRKMFYLLKTAFPSVQINTEEHVDAADQEVILWDHKI
  PEDILKEVTTPKEVPAESVTVWIDPLDATQEYTEDLRKYVTTMVCVAVNGKPMLGVIHKPFSEYTAWAMVDGGSN
  VKARSSYNEKTPRIVVSRSHSGMVKQVALQTFGNQTTIIPAGGAGYKVLALLDVPDKSQEKADLYIHVTYIKKWD
  ICAGNAILKALGGHMTTLSGEEISYTGSDGIEGGLLASIRMNHQALVRKLPDLEKTGHK

• Structural information:
  • Interpro: IPR000760  IPR020550  
  • Prosite: PS00630
  • STRING: ENSP00000262644
• Other Databases: GeneCards:  BPNT2  Malacards:  BPNT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0012505	endomembrane system	IBA	cellular component
GO:0008254	3'-nucleotidase activity	IBA	molecular function
GO:0001501	skeletal system development	IBA	biological process
GO:0032588	trans-Golgi network membrane	ISS	cellular component
GO:0097657	3',5'-nucleotide bisphosphate phosphatase activity	ISS	molecular function
GO:0046855	inositol phosphate dephosphorylation	IEA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008441	3'(2'),5'-bisphosphate nucleotidase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0050427	3'-phosphoadenosine 5'-phosphosulfate metabolic process	TAS	biological process
GO:0005796	Golgi lumen	TAS	cellular component
GO:0097657	3',5'-nucleotide bisphosphate phosphatase activity	IEA	molecular function
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0032588	trans-Golgi network membrane	IEA	cellular component
GO:0030204	chondroitin sulfate metabolic process	IEA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0008254	3'-nucleotidase activity	IEA	molecular function
GO:0002063	chondrocyte development	IEA	biological process
GO:0001958	endochondral ossification	IEA	biological process
GO:0001501	skeletal system development	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04070	Phosphatidylinositol signaling system
hsa00562	Inositol phosphate metabolism
hsa00920	Sulfur metabolism

Diseases

Associated diseases	References
Chondrodysplasia with joint dislocations, GPAPP type	KEGG:H02306
Chondrodysplasia with joint dislocations, GPAPP type	KEGG:H02306
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881