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

Gene ID: 5799, updated on 12-May-2016
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 HPRD:03413; MIM:601698; Vega:OTTHUMG00000152646
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]
Orthologs
Location:
7q36
Exon count:
27
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (157539056..158587796, 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 LOC105375610 Neighboring gene uncharacterized LOC100506557 Neighboring gene uncharacterized LOC105375615 Neighboring gene uncharacterized LOC105375614 Neighboring gene microRNA 153-2 Neighboring gene uncharacterized LOC100506585 Neighboring gene uncharacterized LOC105375613 Neighboring gene uncharacterized LOC105375612 Neighboring gene uncharacterized LOC105375611 Neighboring gene long intergenic non-protein coding RNA 1022 Neighboring gene microRNA 595 Neighboring gene microRNA 5707

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

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

  • Type I diabetes mellitus, organism-specific biosystem (from KEGG)
    Type I diabetes mellitus, organism-specific biosystemType I diabetes mellitus is a disease that results from autoimmune destruction of the insulin-producing beta-cells. Certain beta-cell proteins act as autoantigens after being processed by antigen-pre...
  • Type I diabetes mellitus, conserved biosystem (from KEGG)
    Type I diabetes mellitus, conserved biosystemType I diabetes mellitus is a disease that results from autoimmune destruction of the insulin-producing beta-cells. Certain beta-cell proteins act as autoantigens after being processed by antigen-pre...
Products Interactant Other Gene Complex Source Pubs Description

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
 
negative regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
neurotransmitter secretion ISS
Inferred from Sequence or Structural Similarity
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 junction IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum lumen IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
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
 
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_002838.2
NP_570857.2
NP_570858.2

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_001308267.1NP_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)
    AB002385, AF007555, AW292950, BC071570, BG059906, DR003669, U81561
    Consensus CDS
    CCDS78294.1
    UniProtKB/Swiss-Prot
    Q92932
    UniProtKB/TrEMBL
    E7EM83, I6L9F8
    Conserved Domains (3) summary
    pfam11548
    Location:470560
    Receptor_IA-2; Protein-tyrosine phosphatase receptor IA-2
    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 ...
  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
    pfam11548
    Location:531621
    Receptor_IA-2; Protein-tyrosine phosphatase receptor IA-2
    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 ...
    pfam14948
    Location:82168
    RESP18; RESP18 domain
  3. NM_002847.4NP_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)
    AB002385, AF007555, AW292950, BC071570, BG059906, DR003669, U81561
    Consensus CDS
    CCDS5947.1
    UniProtKB/Swiss-Prot
    Q92932
    UniProtKB/TrEMBL
    I6L9F8
    Related
    ENSP00000374069, OTTHUMP00000214028, ENST00000389418, OTTHUMT00000353214
    Conserved Domains (4) summary
    pfam11548
    Location:508598
    Receptor_IA-2; Protein-tyrosine phosphatase receptor IA-2
    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 ...
    pfam14948
    Location:59145
    RESP18; RESP18 domain
  4. NM_130842.3NP_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)
    AF007555, AW292950, BC034040, CB850986, DR003669, U81561
    Consensus CDS
    CCDS5948.1
    UniProtKB/Swiss-Prot
    Q92932
    Related
    ENSP00000374067, OTTHUMP00000214027, ENST00000389416, OTTHUMT00000353213
    Conserved Domains (4) summary
    pfam11548
    Location:491581
    Receptor_IA-2; Protein-tyrosine phosphatase receptor IA-2
    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 ...
    pfam14948
    Location:42128
    RESP18; RESP18 domain
  5. NM_130843.3NP_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)
    AF007555, AW292950, BC034040, CB850986, DR003669
    Consensus CDS
    CCDS5949.1
    UniProtKB/Swiss-Prot
    Q92932
    Related
    ENSP00000374064, OTTHUMP00000202114, ENST00000389413, OTTHUMT00000327121
    Conserved Domains (4) summary
    pfam11548
    Location:508569
    Receptor_IA-2; Protein-tyrosine phosphatase receptor IA-2
    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 ...
    pfam14948
    Location:59145
    RESP18; RESP18 domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

    Range
    157539056..158587796 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516445.1XP_011514747.1  

    Related
    ENSP00000387114, OTTHUMP00000202113, ENST00000409483, OTTHUMT00000327120
    Conserved Domains (3) summary
    pfam11548
    Location:470560
    Receptor_IA-2; Protein-tyrosine phosphatase receptor IA-2
    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 ...
  2. XM_011516446.1XP_011514748.1  

    Conserved Domains (3) summary
    pfam11548
    Location:508598
    Receptor_IA-2; Protein-tyrosine phosphatase receptor IA-2
    pfam14948
    Location:59145
    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_011516447.1XP_011514749.1  

    Conserved Domains (2) summary
    pfam11548
    Location:508575
    Receptor_IA-2; Protein-tyrosine phosphatase receptor IA-2
    pfam14948
    Location:59145
    RESP18; RESP18 domain
  4. XM_011516448.1XP_011514750.1  

    Conserved Domains (2) summary
    pfam11548
    Location:508575
    Receptor_IA-2; Protein-tyrosine phosphatase receptor IA-2
    pfam14948
    Location:59145
    RESP18; RESP18 domain
  5. XM_011516449.1XP_011514751.1  

    Conserved Domains (2) summary
    pfam11548
    Location:508563
    Receptor_IA-2; Protein-tyrosine phosphatase receptor IA-2
    pfam14948
    Location:59145
    RESP18; RESP18 domain

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    157340603..158388873 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)