Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	54928
Gene name Gene Name - the full gene name approved by the HGNC.	3'(2'), 5'-bisphosphate nucleotidase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BPNT2
Synonyms (NCBI Gene) Gene synonyms aliases	GPAPP, IMP 3, IMP-3, IMPA3, IMPAD1
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8q12.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(5)

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

Show/Hide all(22)

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

MIM	HGNC	e!Ensembl
614010	26019	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

Interactions

View interactions

	KEGG		Reactome
	Sulfur metabolism Metabolic pathways Phosphatidylinositol signaling system		Cytosolic sulfonation of small molecules

Show/Hide Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 more)
Chondrodysplasia with joint dislocations	CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE, Chondrodysplasia with joint dislocations, gPAPP type	rs387907101, rs387907102, rs387907103, rs724160003	21549340, 22887726
Coronal craniosynostosis	Coronal craniosynostosis	rs1566992093

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Diverticulitis	Diverticulitis			GWAS

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