Bpnt2 3'(2'), 5'-bisphosphate nucleotidase 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bpnt2provided by MGI
Official Full Name: 3'(2'), 5'-bisphosphate nucleotidase 2provided by MGI
Primary source: MGI:MGI:1915720
See related: Ensembl:ENSMUSG00000066324 AllianceGenome:MGI:1915720
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Jaws; IMP 3; gPAPP; Impad1; IMPase 3; B230207P20; 1110001C20Rik
Summary: Enables 3',5'-nucleotide bisphosphate phosphatase activity and 3'-nucleotidase activity. Acts upstream of or within several processes, including chondroitin sulfate metabolic process; embryonic digit morphogenesis; and skeletal system development. Located in trans-Golgi network membrane. Is expressed in brain; metanephros; respiratory system; rib; and spinal cord. Used to study chondrodysplasia with joint dislocations gPAPP type. Human ortholog(s) of this gene implicated in chondrodysplasia with joint dislocations gPAPP type. Orthologous to human BPNT2 (3'(2'), 5'-bisphosphate nucleotidase 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 10.7), CNS E18 (RPKM 9.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 A1; 4 2.56 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (4762484..4793306, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (4762484..4793306, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Bisphosphate nucleotidase 2 (BPNT2), a molecular target of lithium, regulates chondroitin sulfation patterns in the cerebral cortex and hippocampus.
Title: Bisphosphate nucleotidase 2 (BPNT2), a molecular target of lithium, regulates chondroitin sulfation patterns in the cerebral cortex and hippocampus.
Sulfation of glycosaminoglycans depends on the catalytic activity of lithium-inhibited phosphatase BPNT2 in vitro.
Title: Sulfation of glycosaminoglycans depends on the catalytic activity of lithium-inhibited phosphatase BPNT2 in vitro.
Golgi plays an important role in glycosaminoglycan sulfation and define a function for gPAPP in the formation of skeletal elements derived through endochondral ossification[3'-phosphoadenosine 5'-phosphate phosphatase]
Title: A role for a lithium-inhibited Golgi nucleotidase in skeletal development and sulfation.
identify JAWS as a key regulator of chondrogenesis and synovial joint positioning required for the restriction of joint formation to discrete stereotyped locations in the embryonic skeleton
Title: JAWS coordinates chondrogenesis and synovial joint positioning.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Gene trapped (2) 1 citation
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH124786 (e-PCR)
- UniSTS:161608

RH125433 (e-PCR)
- UniSTS:162254

AI451589 (e-PCR)
- UniSTS:159211

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 3'(2'),5'-bisphosphate nucleotidase activity	IEA Inferred from Electronic Annotation more info
enables 3',5'-nucleotide bisphosphate phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables 3'-nucleotidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 3'-nucleotidase activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within chondrocyte development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chondroitin sulfate metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic digit morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endochondral ossification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphatidylinositol phosphate biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within post-embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal system development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in endomembrane system	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear body	IEA Inferred from Electronic Annotation more info
located_in nuclear body	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in trans-Golgi network membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase

Names: Golgi 3-prime phosphoadenosine 5-prime phosphate 3-prime phosphatase; golgi-resident PAP phosphatase; inositol monophosphatase 3; inositol monophosphatase domain containing 1; inositol monophosphatase domain-containing protein 1; inositol-1(or 4)-monophosphatase 3; myo-inositol monophosphatase A3; phosphoadenosine phosphate 3'-nucleotidase

NP_808398.1

EC 3.1.3.7

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_177730.4 → NP_808398.1 Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase

See identical proteins and their annotated locations for NP_808398.1

Status: VALIDATED

Source sequence(s)

AL772346

Consensus CDS

CCDS17947.1

UniProtKB/Swiss-Prot

A6H6P6, Q80V26

Related

ENSMUSP00000082013.3, ENSMUST00000084949.3

Conserved Domains (1) summary

cd01640
Location:64 → 347

IPPase; Inositol polyphosphate-1-phosphatase, a member of the Mg++ dependent family of inositol monophosphatase-like domains, hydrolyzes the 1' position phosphate from inositol 1,3,4-trisphosphate and inositol 1,4-bisphosphate. Members in this group may also ...