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

Summary

Official Symbol: Ptprnprovided by MGI
Official Full Name: protein tyrosine phosphatase receptor type Nprovided by MGI
Primary source: MGI:MGI:102765
See related: Ensembl:ENSMUSG00000026204 AllianceGenome:MGI:102765
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: IA-2; mIA-A; R-PTP-N; PTP IA-2; mKIAA4064
Summary: Predicted to enable GTPase binding activity; spectrin binding activity; and ubiquitin-like protein ligase binding activity. Involved in insulin secretion involved in cellular response to glucose stimulus; luteinization; and positive regulation of type B pancreatic cell proliferation. Predicted to be located in several cellular components, including Golgi apparatus; axon terminus; and neuronal cell body. Predicted to be active in secretory granule and synapse. Is expressed in lens vesicle and nervous system. Human ortholog(s) of this gene implicated in type 1 diabetes mellitus. Orthologous to human PTPRN (protein tyrosine phosphatase receptor type N). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in frontal lobe adult (RPKM 72.5), cortex adult (RPKM 72.0) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 C4; 1 38.64 cM

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (75223679..75241437, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (75247035..75264497, complement)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

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.
Ptprn is an activity dependent gene in mouse olfactory sensory neurons. [Ptprn]
Title: Activity-dependent genes in mouse olfactory sensory neurons.
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.
Experiments showed that the knock-out of IA-2, but not IA-2beta, resulted in marked impairment of active avoidance learning; one copy of the gene was sufficient to maintain active avoidance learning
Title: The dense core vesicle protein IA-2, but not IA-2β, is required for active avoidance learning.
Data show that the insulinoma associated protein-2 distribution in peripheral neurons appeared more intensely in neurites rather than in the cell bodies.
Title: Localization of insulinoma associated protein 2, IA-2 in mouse neuroendocrine tissues using two novel monoclonal antibodies.
IA-2-/- mice had higher sensitivity to STZ, suggesting a role of IA-2 not only in the secretion but also in the production of insulin.
Title: Insulinoma-associated protein 2-deficient mice develop severe forms of diabetes induced by multiple low doses of streptozotocin.
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.
In mice IA-2 expressed exclusively in dense core secretory vesicles (DCV) of neuroendocrine cells of brain and impairment of conditioned learning.
Title: Disturbances in the secretion of neurotransmitters in IA-2/IA-2beta null mice: changes in behavior, learning and lifespan.
ICA512-CCF also dimerizes with intact ICA512 on granules, thereby displacing it from beta2-syntrophin.
Title: Regulation of insulin granule turnover in pancreatic beta-cells by cleaved ICA512.
IA-2 beta undergoes at least three distinct proteolytic cleavages.
Title: Detection of proteolytic cleavages of diabetes-associated protein IA-2 beta in the pancreas and the brain using novel anti-IA-2 beta monoclonal antibodies.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (2) 1 citation

General gene information

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Markers

MARC_8095-8096:996688286:1 (e-PCR)
- UniSTS:269893

PTPRN_1350 (e-PCR)
- UniSTS:277628

PTPRN_v432 (e-PCR)
- UniSTS:277628

X74438 (e-PCR)
- UniSTS:125834

X74438 (e-PCR)
- UniSTS:163252

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTPase binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
NOT enables protein tyrosine phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
NOT enables protein tyrosine phosphatase activity	IKR Inferred from Key Residues more info	PubMed
enables spectrin binding	ISO Inferred from Sequence Orthology more info
enables transcription factor binding	ISO Inferred from Sequence Orthology more info
enables ubiquitin-like protein ligase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
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 luteinization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of type B pancreatic cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of type B pancreatic cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in regulation of secretion	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to reactive oxygen species	ISO Inferred from Sequence Orthology more info
involved_in response to reactive oxygen species	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info
located_in axon terminus	ISO Inferred from Sequence Orthology more info
located_in axon terminus	ISS Inferred from Sequence or Structural Similarity more info
located_in endosome	ISO Inferred from Sequence Orthology more info
located_in endosome	ISS Inferred from Sequence or Structural Similarity more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in perikaryon	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in secretory granule	IBA Inferred from Biological aspect of Ancestor more info
located_in secretory granule	ISO Inferred from Sequence Orthology more info
located_in secretory granule	ISS Inferred from Sequence or Structural Similarity more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info
located_in synapse	ISO Inferred from Sequence Orthology more info
located_in synapse	ISS Inferred from Sequence or Structural Similarity more info
NOT located_in synaptic vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in transport vesicle membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: receptor-type tyrosine-protein phosphatase-like N

NP_001346210.1

EC 3.1.3.48

NP_001391996.1

EC 3.1.3.48

NP_001391997.1

EC 3.1.3.48

NP_033011.2

EC 3.1.3.48

XP_006496508.1

EC 3.1.3.48

XP_036018688.1

EC 3.1.3.48

XP_036018692.1

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_001359281.2 → NP_001346210.1 receptor-type tyrosine-protein phosphatase-like N isoform 2

Status: VALIDATED

Source sequence(s)

AC166150

UniProtKB/TrEMBL

Q925J7

Conserved Domains (3) summary

cd14609
Location:602 → 882

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

pfam11548
Location:378 → 466

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

pfam14948
Location:1 → 48

RESP18; RESP18 domain
NM_001405067.1 → NP_001391996.1 receptor-type tyrosine-protein phosphatase-like N isoform 3

Status: VALIDATED

Source sequence(s)

AC166150

UniProtKB/TrEMBL

Q6NVE2
NM_001405068.2 → NP_001391997.1 receptor-type tyrosine-protein phosphatase-like N isoform 2

Status: VALIDATED

Source sequence(s)

AC166150

UniProtKB/TrEMBL

Q925J7
NM_008985.4 → NP_033011.2 receptor-type tyrosine-protein phosphatase-like N isoform 1 precursor

See identical proteins and their annotated locations for NP_033011.2

Status: VALIDATED

Source sequence(s)

AC166150

Consensus CDS

CCDS35625.1

UniProtKB/TrEMBL

A6MDD2, Q6NVE2

Related

ENSMUSP00000027404.6, ENSMUST00000027404.12

Conserved Domains (4) summary

smart00194
Location:711 → 970

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:738 → 970

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:474 → 559

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

pfam14948
Location:63 → 141

RESP18; RESP18 domain

RNA

NR_175909.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC166150

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_000067.7 Reference GRCm39 C57BL/6J

Range

75223679..75241437 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006496445.2 → XP_006496508.1 receptor-type tyrosine-protein phosphatase-like N isoform X4

See identical proteins and their annotated locations for XP_006496508.1

UniProtKB/TrEMBL

Q925J7

Conserved Domains (3) summary

cd14609
Location:602 → 882

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

pfam11548
Location:378 → 466

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

pfam14948
Location:1 → 48

RESP18; RESP18 domain
XM_036162795.1 → XP_036018688.1 receptor-type tyrosine-protein phosphatase-like N isoform X2

UniProtKB/TrEMBL

Q6NVE2

Conserved Domains (3) summary

cd14609
Location:657 → 937

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

pfam11548
Location:433 → 521

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

pfam14948
Location:58 → 101

RESP18; RESP18 domain
XM_036162799.1 → XP_036018692.1 receptor-type tyrosine-protein phosphatase-like N isoform X3

UniProtKB/TrEMBL

Q925J7

Conserved Domains (3) summary

cd14609
Location:629 → 909

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

pfam11548
Location:405 → 493

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

pfam14948
Location:30 → 73

RESP18; RESP18 domain