Ptprn2 protein tyrosine phosphatase receptor type N polypeptide 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ptprn2provided by MGI
Official Full Name: protein tyrosine phosphatase receptor type N polypeptide 2provided by MGI
Primary source: MGI:MGI:107418
See related: Ensembl:ENSMUSG00000056553 AllianceGenome:MGI:107418
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: Phol; PTP-NP; IA2beta; phogrin; mKIAA0387; 4930425H11Rik
Summary: Predicted to enable protein tyrosine phosphatase activity. Involved in insulin secretion involved in cellular response to glucose stimulus and neurotransmitter secretion. Located in secretory granule membrane and synaptic vesicle membrane. Is expressed in several structures, including foregut-midgut junction; midgut endoderm; and nervous system. Used to study type 1 diabetes mellitus. Human ortholog(s) of this gene implicated in prediabetes syndrome and type 1 diabetes mellitus. Orthologous to human PTPRN2 (protein tyrosine phosphatase receptor type N2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in cortex adult (RPKM 41.7), frontal lobe adult (RPKM 37.3) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 F2; 12 62.65 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (116449316..117241787)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (116485695..117278167)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Insulin granule morphology and crinosome formation in mice lacking the pancreatic beta cell-specific phogrin (PTPRN2) gene.
Title: Insulin granule morphology and crinosome formation in mice lacking the pancreatic β cell-specific phogrin (PTPRN2) gene.
Relative to wildtype mice, IRS2 levels in phogrin-knockout mice islets decreased by 44%. When phogrin was silenced by shRNA in pancreatic beta-cell lines, glucose-induced insulin signaling led to proteasomal degradation of IRS2 via a negative feedback mechanism.
Title: The pseudophosphatase phogrin enables glucose-stimulated insulin signaling in pancreatic β cells.
The deletion of IA-2 and IA-2beta results in multiple pathophysiologic changes and represents a unique in vivo model for studying the effect of hormone and neurotransmitter reduction on known and still unrecognized targets.
Title: Pathophysiologic changes in IA-2/IA-2β null mice are secondary to alterations in the secretion of hormones and neurotransmitters.
Data show that miRNAs are involved in regulating the expression of the major type 1 diabetes (T1D) autoantigens IA-2, IA-2beta, and GAD65 enzyme.
Title: Multiple microRNAs within the 14q32 cluster target the mRNAs of major type 1 diabetes autoantigens IA-2, IA-2β, and GAD65.
Membrane-proximal ectodomain of phogrin was produced as a recombinant protein and characterized' results showed that it is a properly folded monomeric domain.
Title: Biophysical characterization of the membrane-proximal ectodomain of the receptor-type protein-tyrosine phosphatase phogrin.
deletion of IA-2 and IA-2beta, structural proteins of secretory vesicles and modulators of neuroendocrine secretion, has a profound effect on the circadian system.
Title: Deletion of the secretory vesicle proteins IA-2 and IA-2beta disrupts circadian rhythms of cardiovascular and physical activity.
IA-2 and IA-2beta are dispensable for exocytosis of insulin granules, but are probably more important for cargo loading and/or stability of dense core vesicles
Title: Insulin secretion in islets from mice with a double knockout for the dense core vesicle proteins islet antigen-2 (IA-2) and IA-2beta.
Phogrin and IA-2 function as essential regulators of autocrine insulin action in pancreatic beta-cells.
Title: Gene silencing of phogrin unveils its essential role in glucose-responsive pancreatic beta-cell growth.
analysis of a tyrosine-targeting motif for endocytosis and recycling of the dense-core vesicle membrane protein phogrin
Title: An extended tyrosine-targeting motif for endocytosis and recycling of the dense-core vesicle membrane protein phogrin.
phogrin is recycled in Min6 beta-cells
Title: Recycling of the dense-core vesicle membrane protein phogrin in Min6 beta-cells.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

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

Endonuclease-mediated (3)
Gene trapped (1)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables histone H2AXY142 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables non-membrane spanning protein tyrosine phosphatase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine phosphatase activity, metal-dependent	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in insulin secretion involved in cellular response to glucose stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in insulin secretion involved in cellular response to glucose stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in neurotransmitter secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of secretion	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum lumen	ISO Inferred from Sequence Orthology more info
is_active_in presynapse	ISO Inferred from Sequence Orthology more info
part_of receptor complex	ISO Inferred from Sequence Orthology more info	PubMed
is_active_in secretory granule	IBA Inferred from Biological aspect of Ancestor more info
located_in secretory granule	IDA Inferred from Direct Assay more info	PubMed
located_in secretory granule	ISO Inferred from Sequence Orthology more info
located_in secretory granule membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info
located_in synaptic vesicle membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info
located_in terminal bouton	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: receptor-type tyrosine-protein phosphatase N2

Names: IA-2 beta; PTP IA-2beta; R-PTP-N2; protein tyrosine phosphatase-NP

NP_035345.2

EC 3.1.3.48

XP_011242321.1

EC 3.1.3.48

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_011215.2 → NP_035345.2 receptor-type tyrosine-protein phosphatase N2 precursor

See identical proteins and their annotated locations for NP_035345.2

Status: VALIDATED

Source sequence(s)

AC160634, AC164641, AK138655, BC133678

Consensus CDS

CCDS36576.1

UniProtKB/Swiss-Prot

O09134, P70328, P80560, Q1RLJ1

UniProtKB/TrEMBL

A3KN68

Related

ENSMUSP00000064046.8, ENSMUST00000070733.9

Conserved Domains (4) summary

smart00194
Location:731 → 990

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:758 → 990

PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...

pfam11548
Location:498 → 583

Receptor_IA-2; Protein-tyrosine phosphatase receptor IA-2

pfam14948
Location:72 → 126

RESP18; RESP18 domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000078.7 Reference GRCm39 C57BL/6J

Range

116449316..117241787

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011244019.4 → XP_011242321.1 receptor-type tyrosine-protein phosphatase N2 isoform X1

UniProtKB/TrEMBL

A3KN68

Conserved Domains (2) summary

cd14610
Location:675 → 957

R-PTP-N2; PTP-like domain of receptor-type tyrosine-protein phosphatase N2

pfam11548
Location:457 → 545

Receptor_IA-2; Protein-tyrosine phosphatase receptor IA-2