Human Gene PTPRN2 (ENST00000389418.9) from GENCODE V44
  Description: Homo sapiens protein tyrosine phosphatase receptor type N2 (PTPRN2), transcript variant 1, mRNA. (from RefSeq NM_002847)
RefSeq Summary (NM_002847): 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].
Gencode Transcript: ENST00000389418.9
Gencode Gene: ENSG00000155093.20
Transcript (Including UTRs)
   Position: hg38 chr7:157,539,056-158,587,823 Size: 1,048,768 Total Exon Count: 23 Strand: -
Coding Region
   Position: hg38 chr7:157,540,714-158,587,669 Size: 1,046,956 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:157,539,056-158,587,823)mRNA (may differ from genome)Protein (1015 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PTPR2_HUMAN
DESCRIPTION: RecName: Full=Receptor-type tyrosine-protein phosphatase N2; Short=R-PTP-N2; EC=3.1.3.48; AltName: Full=Islet cell autoantigen-related protein; Short=IAR; Short=ICAAR; AltName: Full=Phogrin; Flags: Precursor;
FUNCTION: Implicated in development of nervous system and pancreatic endocrine cells.
CATALYTIC ACTIVITY: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
BIOPHYSICOCHEMICAL PROPERTIES: pH dependence: Optimum pH is 4.5;
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle membrane; Single-pass type I membrane protein (By similarity).
TISSUE SPECIFICITY: Highest levels in brain and pancreas. Lower levels in trachea, prostate, stomach and spinal chord.
DOMAIN: The cytoplasmic domain appears to contain the autoantigenic epitopes.
PTM: Appears to undergo multiple proteolytic cleavage at consecutive basic residues.
MISCELLANEOUS: Autoantigen in insulin-dependent diabetes mellitus (IDDM).
SIMILARITY: Belongs to the protein-tyrosine phosphatase family. Receptor class 8 subfamily.
SIMILARITY: Contains 1 tyrosine-protein phosphatase domain.
SEQUENCE CAUTION: Sequence=BAA20841.2; Type=Erroneous initiation;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PTPRN2
Diseases sorted by gene-association score: diabetes mellitus, insulin-dependent (2), anomalous left coronary artery from the pulmonary artery (2), multiple cranial nerve palsy (1), glossopharyngeal nerve disease (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 42.95 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 499.12 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -92.40154-0.600 Picture PostScript Text
3' UTR -532.301658-0.321 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR021613 - Receptor_IA-2
IPR000387 - Tyr/Dual-specificity_Pase
IPR016130 - Tyr_Pase_AS
IPR000242 - Tyr_Pase_rcpt/non-rcpt

Pfam Domains:
PF11548 - Protein-tyrosine phosphatase receptor IA-2
PF00102 - Protein-tyrosine phosphatase

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2QEP - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q92932
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004721 phosphoprotein phosphatase activity
GO:0004725 protein tyrosine phosphatase activity
GO:0005001 transmembrane receptor protein tyrosine phosphatase activity
GO:0016787 hydrolase activity
GO:0016791 phosphatase activity

Biological Process:
GO:0006470 protein dephosphorylation
GO:0006629 lipid metabolic process
GO:0007269 neurotransmitter secretion
GO:0016311 dephosphorylation
GO:0034260 negative regulation of GTPase activity
GO:0035335 peptidyl-tyrosine dephosphorylation
GO:0035773 insulin secretion involved in cellular response to glucose stimulus
GO:0043312 neutrophil degranulation

Cellular Component:
GO:0005737 cytoplasm
GO:0005788 endoplasmic reticulum lumen
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0030141 secretory granule
GO:0030658 transport vesicle membrane
GO:0030667 secretory granule membrane
GO:0030672 synaptic vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0043195 terminal bouton
GO:0043235 receptor complex
GO:0045202 synapse
GO:0101003 ficolin-1-rich granule membrane


-  Descriptions from all associated GenBank mRNAs
  BC034040 - Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2, mRNA (cDNA clone MGC:26506 IMAGE:4811578), complete cds.
BC071570 - Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2, mRNA (cDNA clone MGC:87154 IMAGE:4375815), complete cds.
AB002385 - Homo sapiens mRNA for KIAA0387 gene.
U81561 - Human protein tyrosine phosphatase receptor pi (PTPRP) mRNA, complete cds.
U66702 - Human phogrin mRNA, complete cds.
U65065 - Human tyrosine phosphatase IA-2beta mRNA, complete cds.
AF007555 - Homo sapiens IAR/receptor-like protein-tyrosine phosphatase precursor mRNA, complete cds.
AB383870 - Synthetic construct DNA, clone: pF1KSDA0387, Homo sapiens PTPRN2 gene for protein tyrosine phosphatase, receptor type, N polypeptide 2, complete cds, without stop codon, in Flexi system.
DQ892399 - Synthetic construct clone IMAGE:100005029; FLH185990.01X; RZPDo839H07148D protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2) gene, encodes complete protein.
EU176514 - Synthetic construct Homo sapiens clone IMAGE:100011626; FLH263925.01L; RZPDo839C12246D protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2) gene, encodes complete protein.
AL157451 - Homo sapiens mRNA; cDNA DKFZp761A0712 (from clone DKFZp761A0712).
JD297351 - Sequence 278375 from Patent EP1572962.
JD113725 - Sequence 94749 from Patent EP1572962.
JD557850 - Sequence 538874 from Patent EP1572962.
JD554942 - Sequence 535966 from Patent EP1572962.
JD445788 - Sequence 426812 from Patent EP1572962.
JD325349 - Sequence 306373 from Patent EP1572962.
JD391890 - Sequence 372914 from Patent EP1572962.
JD173154 - Sequence 154178 from Patent EP1572962.
JD283095 - Sequence 264119 from Patent EP1572962.
JD452406 - Sequence 433430 from Patent EP1572962.
JD118660 - Sequence 99684 from Patent EP1572962.
JD226497 - Sequence 207521 from Patent EP1572962.
JD395368 - Sequence 376392 from Patent EP1572962.
JD534528 - Sequence 515552 from Patent EP1572962.
JD089044 - Sequence 70068 from Patent EP1572962.
JD077395 - Sequence 58419 from Patent EP1572962.
JD492511 - Sequence 473535 from Patent EP1572962.
JD307597 - Sequence 288621 from Patent EP1572962.
JD101499 - Sequence 82523 from Patent EP1572962.
JD516676 - Sequence 497700 from Patent EP1572962.
DQ594348 - Homo sapiens piRNA piR-60460, complete sequence.
JD554190 - Sequence 535214 from Patent EP1572962.
JD323538 - Sequence 304562 from Patent EP1572962.
JD377655 - Sequence 358679 from Patent EP1572962.
JD386013 - Sequence 367037 from Patent EP1572962.
JD484279 - Sequence 465303 from Patent EP1572962.
JD406976 - Sequence 388000 from Patent EP1572962.
JD406073 - Sequence 387097 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04940 - Type I diabetes mellitus

Reactome (by CSHL, EBI, and GO)

Protein Q92932 (Reactome details) participates in the following event(s):

R-HSA-6800426 Exocytosis of ficolin-rich granule membrane proteins
R-HSA-6798695 Neutrophil degranulation
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000389418.1, ENST00000389418.2, ENST00000389418.3, ENST00000389418.4, ENST00000389418.5, ENST00000389418.6, ENST00000389418.7, ENST00000389418.8, KIAA0387, NM_002847, PTPR2_HUMAN, Q8N4I5, Q92662, Q92932, Q9Y4F8, uc003wno.1, uc003wno.2, uc003wno.3, uc003wno.4, uc003wno.5
UCSC ID: ENST00000389418.9
RefSeq Accession: NM_002847
Protein: Q92932 (aka PTPR2_HUMAN)
CCDS: CCDS5947.1, CCDS5948.1, CCDS5949.1, CCDS78294.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.