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PTPRN2 protein tyrosine phosphatase receptor type N2 [ Homo sapiens (human) ]

Gene ID: 5799, updated on 29-Mar-2020

Summary

Official Symbol
PTPRN2provided by HGNC
Official Full Name
protein tyrosine phosphatase receptor type N2provided by HGNC
Primary source
HGNC:HGNC:9677
See related
Ensembl:ENSG00000155093 MIM:601698
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IAR; ICAAR; PTPRP; IA-2beta; R-PTP-N2
Summary
This gene encodes a protein with sequence similarity to receptor-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog suggest that the encoded protein may instead function as a phosphatidylinositol phosphatase with the ability to dephosphorylate phosphatidylinositol 3-phosphate and phosphatidylinositol 4,5-diphosphate, and this function may be involved in the regulation of insulin secretion. This protein has been identified as an autoantigen in insulin-dependent diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
Expression
Broad expression in brain (RPKM 7.2), stomach (RPKM 4.9) and 18 other tissues See more
Orthologs

Genomic context

See PTPRN2 in Genome Data Viewer
Location:
7q36.3
Exon count:
29
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (157539052..158587823, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (157331750..158380482, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927914 Neighboring gene uncharacterized LOC105375610 Neighboring gene uncharacterized LOC105375615 Neighboring gene uncharacterized LOC105375614 Neighboring gene microRNA 153-2 Neighboring gene PTPRN2 antisense RNA 1 Neighboring gene uncharacterized LOC105375613 Neighboring gene Sharpr-MPRA regulatory region 5343 Neighboring gene D7S22 minisatellite repeat instability region Neighboring gene Sharpr-MPRA regulatory region 11620 Neighboring gene microRNA 595 Neighboring gene long intergenic non-protein coding RNA 1022 Neighboring gene microRNA 5707 Neighboring gene THAP domain containing 5 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.
NHGRI GWA Catalog
Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes.
NHGRI GWA Catalog
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
transmembrane receptor protein tyrosine phosphatase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
insulin secretion involved in cellular response to glucose stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
neurotransmitter secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
peptidyl-tyrosine dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
protein dephosphorylation TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum lumen IEA
Inferred from Electronic Annotation
more info
 
ficolin-1-rich granule membrane TAS
Traceable Author Statement
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
integral component of synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
secretory granule membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
synaptic vesicle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
terminal bouton IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
receptor-type tyrosine-protein phosphatase N2
Names
IAR/receptor-like protein-tyrosine phosphatase
islet cell autoantigen-related protein
phogrin
protein tyrosine phosphatase receptor pi
protein tyrosine phosphatase, receptor type, N polypeptide 2
tyrosine phosphatase IA-2 beta
NP_001295196.1
NP_001295197.1
NP_002838.2
NP_570857.2
NP_570858.2
XP_011514748.1
XP_011514749.1
XP_011514750.1
XP_011514751.1
XP_016867964.1
XP_016867965.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_029966.1 RefSeqGene

    Range
    4989..1053737
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001308267.2NP_001295196.1  receptor-type tyrosine-protein phosphatase N2 isoform 4 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (4) that is shorter than isoform 1.
    Source sequence(s)
    AC005481, AC006372, AC011899, AC078942, AC093662, AC093856
    Consensus CDS
    CCDS78294.1
    UniProtKB/Swiss-Prot
    Q92932
    UniProtKB/TrEMBL
    E7EM83, I6L9F8
    Related
    ENSP00000387114.1, ENST00000409483.5
    Conserved Domains (4) summary
    smart00194
    Location:707966
    PTPc; Protein tyrosine phosphatase, catalytic domain
    cd00047
    Location:734966
    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:474559
    Receptor_IA-2; Protein-tyrosine phosphatase receptor IA-2
    pfam14948
    Location:55100
    RESP18; RESP18 domain
  2. NM_001308268.1NP_001295197.1  receptor-type tyrosine-protein phosphatase N2 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (5) has a distinct N-terminus and is longer than isoform 1.
    Source sequence(s)
    AB002385, AF007555, AW292950, BC071570, BG059906, U81561
    UniProtKB/Swiss-Prot
    Q92932
    UniProtKB/TrEMBL
    I6L9F8
    Conserved Domains (4) summary
    smart00194
    Location:7681027
    PTPc; Protein tyrosine phosphatase, catalytic domain
    cd00047
    Location:7951027
    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:535620
    Receptor_IA-2; Protein-tyrosine phosphatase receptor IA-2
    pfam14948
    Location:82161
    RESP18; RESP18 domain
  3. NM_002847.5NP_002838.2  receptor-type tyrosine-protein phosphatase N2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_002838.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AC005481, AC006372, AC011899, AC019043, AC078942, AC093662, AC093856
    Consensus CDS
    CCDS5947.1
    UniProtKB/Swiss-Prot
    Q92932
    UniProtKB/TrEMBL
    I6L9F8
    Related
    ENSP00000374069.4, ENST00000389418.9
    Conserved Domains (4) summary
    smart00194
    Location:7451004
    PTPc; Protein tyrosine phosphatase, catalytic domain
    cd00047
    Location:7721004
    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:512597
    Receptor_IA-2; Protein-tyrosine phosphatase receptor IA-2
    pfam14948
    Location:59138
    RESP18; RESP18 domain
  4. NM_130842.4NP_570857.2  receptor-type tyrosine-protein phosphatase N2 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
    Source sequence(s)
    AC005481, AC006372, AC011899, AC019043, AC093662, AC093856
    Consensus CDS
    CCDS5948.1
    UniProtKB/Swiss-Prot
    Q92932
    Related
    ENSP00000374067.4, ENST00000389416.8
    Conserved Domains (4) summary
    smart00194
    Location:728987
    PTPc; Protein tyrosine phosphatase, catalytic domain
    cd00047
    Location:755987
    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:495580
    Receptor_IA-2; Protein-tyrosine phosphatase receptor IA-2
    pfam14948
    Location:42121
    RESP18; RESP18 domain
  5. NM_130843.4NP_570858.2  receptor-type tyrosine-protein phosphatase N2 isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.
    Source sequence(s)
    AC005481, AC006372, AC011899, AC019043, AC078942, AC093662, AC093856
    Consensus CDS
    CCDS5949.1
    UniProtKB/Swiss-Prot
    Q92932
    Related
    ENSP00000374064.3, ENST00000389413.7
    Conserved Domains (4) summary
    smart00194
    Location:716975
    PTPc; Protein tyrosine phosphatase, catalytic domain
    cd00047
    Location:743975
    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:516568
    Receptor_IA-2; Protein-tyrosine phosphatase receptor IA-2
    pfam14948
    Location:59138
    RESP18; RESP18 domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    157539052..158587823 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012475.1XP_016867964.1  receptor-type tyrosine-protein phosphatase N2 isoform X1

  2. XM_011516446.1XP_011514748.1  receptor-type tyrosine-protein phosphatase N2 isoform X3

    Conserved Domains (3) summary
    pfam11548
    Location:512597
    Receptor_IA-2; Protein-tyrosine phosphatase receptor IA-2
    pfam14948
    Location:59138
    RESP18; RESP18 domain
    cl21483
    Location:772832
    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 ...
  3. XM_017012476.1XP_016867965.1  receptor-type tyrosine-protein phosphatase N2 isoform X2

  4. XM_011516447.2XP_011514749.1  receptor-type tyrosine-protein phosphatase N2 isoform X4

    Conserved Domains (2) summary
    pfam11548
    Location:512575
    Receptor_IA-2; Protein-tyrosine phosphatase receptor IA-2
    pfam14948
    Location:59138
    RESP18; RESP18 domain
  5. XM_011516448.3XP_011514750.1  receptor-type tyrosine-protein phosphatase N2 isoform X5

    Conserved Domains (2) summary
    pfam11548
    Location:512575
    Receptor_IA-2; Protein-tyrosine phosphatase receptor IA-2
    pfam14948
    Location:59138
    RESP18; RESP18 domain
  6. XM_011516449.2XP_011514751.1  receptor-type tyrosine-protein phosphatase N2 isoform X6

    Conserved Domains (2) summary
    pfam11548
    Location:512563
    Receptor_IA-2; Protein-tyrosine phosphatase receptor IA-2
    pfam14948
    Location:59138
    RESP18; RESP18 domain
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