The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single catalytic domain, and thu... See more...

Aliases for PTPRN Gene

Aliases for PTPRN Gene

  • Protein Tyrosine Phosphatase Receptor Type N 2 3 5
  • Islet Cell Antigen 512 2 3 4
  • ICA512 2 3 4
  • Insulinoma-Associated Tyrosine-Phosphatase-Like Protein 2 3
  • Receptor-Type Tyrosine-Protein Phosphatase-Like N 3 4
  • Islet Cell Autoantigen 3 3 4
  • PTP IA-2 3 4
  • R-PTP-N 3 4
  • ICA 512 3 4
  • IA-2 2 3
  • Protein Tyrosine Phosphatase-Like N 3
  • Islet Cell Antigen 2 3
  • EC 3.1.3.48 50
  • IA-2/PTP 3
  • PTPRN 5
  • ICA3 4
  • IA2 3

External Ids for PTPRN Gene

Previous GeneCards Identifiers for PTPRN Gene

  • GC02M218170
  • GC02M218875
  • GC02M220118
  • GC02M220356
  • GC02M219979
  • GC02M219863
  • GC02M212007

Summaries for PTPRN Gene

Entrez Gene Summary for PTPRN Gene

  • The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single catalytic domain, and thus represents a receptor-type PTP. This PTP was found to be an autoantigen that is reactive with insulin-dependent diabetes mellitus (IDDM) patient sera, and thus may be a potential target of autoimmunity in diabetes mellitus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]

GeneCards Summary for PTPRN Gene

PTPRN (Protein Tyrosine Phosphatase Receptor Type N) is a Protein Coding gene. Diseases associated with PTPRN include Insulinoma and Type 1 Diabetes Mellitus. Among its related pathways are PAK Pathway and Allograft rejection. Gene Ontology (GO) annotations related to this gene include phosphatase activity and spectrin binding. An important paralog of this gene is PTPRN2.

UniProtKB/Swiss-Prot Summary for PTPRN Gene

  • Plays a role in vesicle-mediated secretory processes (PubMed:24843546). Required for normal accumulation of secretory vesicles in hippocampus, pituitary and pancreatic islets (By similarity). Required for the accumulation of normal levels of insulin-containing vesicles and preventing their degradation (PubMed:24843546). Plays a role in insulin secretion in response to glucose stimuli (PubMed:24843546). Required for normal accumulation of the neurotransmitters norepinephrine, dopamine and serotonin in the brain (By similarity). In females, but not in males, required for normal accumulation and secretion of pituitary hormones, such as luteinizing hormone (LH) and follicle-stimulating hormone (FSH) (By similarity). Required to maintain normal levels of renin expression and renin release (By similarity). Seems to lack intrinsic enzyme activity (By similarity). May regulate catalytic active protein-tyrosine phosphatases such as PTPRA through dimerization (By similarity).
  • [ICA512-transmembrane fragment]: ICA512-TMF regulates dynamics and exocytosis of insulin secretory granules (SGs); binding of ICA512-TMF to SNTB2/beta-2-syntrophin is proposed to restrain SGs mobility and exocytosis by tethering them to the actin cytoskeleton depending on UTRN; the function is inhibited by cytoplasmic ICA512-CFF dimerizing with ICA512-TMF and displacing SNTB2.
  • [ICA512-cleaved cytosolic fragment]: ICA512-CCF translocated to the nucleus promotes expression of insulin and other granule-related genes; the function implicates binding to and regulating activity of STAT5B probably by preventing its dephosphorylation and potentially by inducing its sumoylation by recruiting PIAS4 (PubMed:15596545, PubMed:16622421, PubMed:18178618). Enhances pancreatic beta-cell proliferation by converging with signaling by STAT5B and STAT3 (PubMed:15596545, PubMed:16622421, PubMed:18178618). ICA512-CCF located in the cytoplasm regulates dynamics and exocytosis of insulin secretory granules (SGs) by dimerizing with ICA512-TMF and displacing SNTB2 thus enhancing SGs mobility and exocytosis (PubMed:18824546, PubMed:20886068).

Gene Wiki entry for PTPRN Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PTPRN Gene

Genomics for PTPRN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PTPRN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J219308 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 264.8 +0.6 648 1.6 KLF9 CEBPA ZIC2 ZBTB10 MXD4 REST KLF11 ZNF639 ZFP64 HOMEZ PTPRN lnc-RESP18-2 GLB1L lnc-RESP18-4 DNAJB2
GH02J219294 Promoter/Enhancer 2 Ensembl ENCODE CraniofacialAtlas dbSUPER 26 +14.9 14883 1.8 BCLAF1 SP1 ZNF207 MYC IKZF1 ZNF600 SSRP1 ZNF580 ZNF592 ZMYM3 MIR153-1 PTPRN CNOT9 STK11IP RNF25 ZNF142 BCS1L STK36 TTLL4 ENSG00000230432
GH02J219310 Enhancer 0.2 Ensembl 250.7 -1.8 -1753 1.6 PTPRN lnc-RESP18-2 piR-39099-145 GLB1L HSALNG0022367 RESP18
GH02J219312 Enhancer 0.2 Ensembl 250.7 -0.7 -653 0.2 PTPRN lnc-RESP18-2 piR-39099-145 RESP18
GH02J219277 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 14.2 +29.9 29949 4.6 BCLAF1 SP1 ZNF207 ZNF654 MYC NCOR1 IKZF1 ZNF600 ATF2 KLF9 DNAJB2 HSALNG0022361-001 HSALNG0022361-002 TUBA4A piR-54823 PTPRN CNOT9 OBSL1 ENSG00000269068 USP37
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PTPRN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PTPRN

Top Transcription factor binding sites by QIAGEN in the PTPRN gene promoter:
  • ARP-1
  • c-Ets-1
  • CUTL1
  • E47
  • MyoD
  • MZF-1
  • NRSF form 1
  • NRSF form 2
  • POU3F1
  • Spz1

Genomic Locations for PTPRN Gene

Latest Assembly
chr2:219,289,623-219,309,648
(GRCh38/hg38)
Size:
20,026 bases
Orientation:
Minus strand

Previous Assembly
chr2:220,154,345-220,174,123
(GRCh37/hg19 by Entrez Gene)
Size:
19,779 bases
Orientation:
Minus strand

chr2:220,154,345-220,174,370
(GRCh37/hg19 by Ensembl)
Size:
20,026 bases
Orientation:
Minus strand

Genomic View for PTPRN Gene

Genes around PTPRN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTPRN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTPRN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTPRN Gene

Proteins for PTPRN Gene

  • Protein details for PTPRN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16849-PTPRN_HUMAN
    Recommended name:
    Receptor-type tyrosine-protein phosphatase-like N
    Protein Accession:
    Q16849
    Secondary Accessions:
    • B4DK12
    • F5GZS3
    • Q08319
    • Q53QD6
    • Q6NSL1

    Protein attributes for PTPRN Gene

    Size:
    979 amino acids
    Molecular mass:
    105848 Da
    Quaternary structure:
    • Homodimer; shown for the unprocessed protein (proICA512) in the endoplasmic reticulum and resolved during protein maturation as ICA512-TMF seems to be predominantly monomeric in secretory granules; however, ICA512-CCF interacts with ICA512-TMF disrupting the ICA512-TMF:SNTB2 complex. The isolated lumenal RESP18 homology domain has been shown to form disulfide-linked homooligomers (PubMed:25561468, PubMed:18824546, PubMed:26836020). Interacts (via cytoplasmic domain) with phosphorylated SNTB2; this protects PTPRN against cleavage by CAPN1 to produce ICA512-CCF. Dephosphorylation of SNTB2 upon insulin stimulation disrupts the interaction and results in PTPRN cleavage (PubMed:11483505). Interacts with SNX19 (PubMed:16273344). ICA512-CCF interacts with PIAS4; in the nucleus (PubMed:15596545). Interacts with STAT5B (phosphorylated); down-regulated by ICA512-CCF sumoylation; ICA512-CCF prevents STAT5B dephosphorylation; ICA512-CCF mediates interaction of STAT5B with PIAS4 (PubMed:15596545, PubMed:16622421). Interacts (via RESP18 homology domain) with insulin and proinsulin (PubMed:26836020). Interacts with PTPRN2, PTPRA and PTPRE (By similarity).

    Three dimensional structures from OCA and Proteopedia for PTPRN Gene

    Alternative splice isoforms for PTPRN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PTPRN Gene

Selected DME Specific Peptides for PTPRN Gene

Q16849:
  • YIATQGP
  • PIIVHCS

Post-translational modifications for PTPRN Gene

  • N-glycosylated.
  • O-glycosylated with core 1 or possibly core 8 glycans.
  • Subject to proteolytic cleavage at multiple sites (PubMed:11483505). Subject to cleavage on a pair of basic residues (By similarity). On exocytosis of secretory granules in pancreatic beta-cells ICA512-TMF is transiently inserted in the plasma-membrane and cleaved by mu-type calpain CPN1 to yield ICA512-CCF (By similarity).
  • Sumoylated at two sites including Lys-754. Sumoylation decreases interaction with STAT5.
  • Glycosylation at Thr441, Asn506, and Asn524
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • PTPRN_HUMAN (697)

Domains & Families for PTPRN Gene

Gene Families for PTPRN Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for PTPRN Gene

GenScript: Design optimal peptide antigens:
  • PTP IA-2 (PTPRN_HUMAN)
  • Protein tyrosine phosphatase, receptor type, N, isoform CRA_b (Q7KZS4_HUMAN)
  • PTPRN protein (Q96IA0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16849

UniProtKB/Swiss-Prot:

PTPRN_HUMAN :
  • The RESP18 homology domain is sufficient for targeting proICA512 to secretory granules.
  • Belongs to the protein-tyrosine phosphatase family. Receptor class 8 subfamily.
Domain:
  • The RESP18 homology domain is sufficient for targeting proICA512 to secretory granules.
Family:
  • Belongs to the protein-tyrosine phosphatase family. Receptor class 8 subfamily.
genes like me logo Genes that share domains with PTPRN: view

Function for PTPRN Gene

Molecular function for PTPRN Gene

UniProtKB/Swiss-Prot Function:
Plays a role in vesicle-mediated secretory processes (PubMed:24843546). Required for normal accumulation of secretory vesicles in hippocampus, pituitary and pancreatic islets (By similarity). Required for the accumulation of normal levels of insulin-containing vesicles and preventing their degradation (PubMed:24843546). Plays a role in insulin secretion in response to glucose stimuli (PubMed:24843546). Required for normal accumulation of the neurotransmitters norepinephrine, dopamine and serotonin in the brain (By similarity). In females, but not in males, required for normal accumulation and secretion of pituitary hormones, such as luteinizing hormone (LH) and follicle-stimulating hormone (FSH) (By similarity). Required to maintain normal levels of renin expression and renin release (By similarity). Seems to lack intrinsic enzyme activity (By similarity). May regulate catalytic active protein-tyrosine phosphatases such as PTPRA through dimerization (By similarity).
UniProtKB/Swiss-Prot Function:
[ICA512-transmembrane fragment]: ICA512-TMF regulates dynamics and exocytosis of insulin secretory granules (SGs); binding of ICA512-TMF to SNTB2/beta-2-syntrophin is proposed to restrain SGs mobility and exocytosis by tethering them to the actin cytoskeleton depending on UTRN; the function is inhibited by cytoplasmic ICA512-CFF dimerizing with ICA512-TMF and displacing SNTB2.
UniProtKB/Swiss-Prot Function:
[ICA512-cleaved cytosolic fragment]: ICA512-CCF translocated to the nucleus promotes expression of insulin and other granule-related genes; the function implicates binding to and regulating activity of STAT5B probably by preventing its dephosphorylation and potentially by inducing its sumoylation by recruiting PIAS4 (PubMed:15596545, PubMed:16622421, PubMed:18178618). Enhances pancreatic beta-cell proliferation by converging with signaling by STAT5B and STAT3 (PubMed:15596545, PubMed:16622421, PubMed:18178618). ICA512-CCF located in the cytoplasm regulates dynamics and exocytosis of insulin secretory granules (SGs) by dimerizing with ICA512-TMF and displacing SNTB2 thus enhancing SGs mobility and exocytosis (PubMed:18824546, PubMed:20886068).
GENATLAS Biochemistry:
protein tyrosine phosphatase IA-2,receptor-type,expressed in islet cells,brain,encoding an autoantigen in insulin-dependent diabetes mellitus (new onset patients)

Enzyme Numbers (IUBMB) for PTPRN Gene

Phenotypes From GWAS Catalog for PTPRN Gene

Gene Ontology (GO) - Molecular Function for PTPRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004725 NOT protein tyrosine phosphatase activity IEA,ISS --
GO:0005515 protein binding IPI 11086001
GO:0008134 transcription factor binding IDA 16622421
GO:0016791 phosphatase activity IEA --
GO:0030507 spectrin binding IPI 11086001
genes like me logo Genes that share ontologies with PTPRN: view
genes like me logo Genes that share phenotypes with PTPRN: view

Animal Models for PTPRN Gene

MGI Knock Outs for PTPRN:

Animal Models for research

  • Taconic Biosciences Mouse Models for PTPRN

miRNA for PTPRN Gene

miRTarBase miRNAs that target PTPRN

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTPRN

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PTPRN Gene

Localization for PTPRN Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTPRN Gene

Membrane. Single-pass type I membrane protein. Cytoplasmic vesicle, secretory vesicle membrane. Single-pass type I membrane protein. Perikaryon. Cell projection, axon. Cell junction, synapse. Cell membrane. Single-pass type I membrane protein. Endosome. Note=Detected on neuronal secretory vesicles, but not on synaptic vesicles. Colocalizes with insulin-containing secretory granules (PubMed:25561468). Primarily detected on secretory vesicle membranes. Transiently found at the cell membrane, when secretory vesicles fuse with the cell membrane to release their cargo. Is then endocytosed and recycled to secretory vesicles via the Golgi apparatus membranes. {ECO:0000250 UniProtKB:Q63259, ECO:0000269 PubMed:25561468}.
[ICA512-transmembrane fragment]: Cytoplasmic vesicle, secretory vesicle membrane.
[ICA512-cleaved cytosolic fragment]: Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PTPRN gene
Compartment Confidence
nucleus 5
plasma membrane 4
endosome 3
golgi apparatus 3
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PTPRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 15596545
GO:0005768 colocalizes_with endosome ISS --
GO:0005794 colocalizes_with Golgi apparatus ISS --
GO:0005886 colocalizes_with plasma membrane ISS --
GO:0008021 NOT colocalizes_with synaptic vesicle ISS --
genes like me logo Genes that share ontologies with PTPRN: view

Pathways & Interactions for PTPRN Gene

PathCards logo

SuperPathways for PTPRN Gene

SuperPathway Contained pathways
1 Allograft rejection
2 PAK Pathway
.36
genes like me logo Genes that share pathways with PTPRN: view

Pathways by source for PTPRN Gene

1 KEGG pathway for PTPRN Gene
1 Qiagen pathway for PTPRN Gene
  • Epithelial Adherens Junctions

Gene Ontology (GO) - Biological Process for PTPRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000302 response to reactive oxygen species IDA 18048354
GO:0001553 luteinization ISS --
GO:0006470 protein dephosphorylation IEA --
GO:0009749 response to glucose IEA --
GO:0016311 dephosphorylation IEA --
genes like me logo Genes that share ontologies with PTPRN: view

No data available for SIGNOR curated interactions for PTPRN Gene

Drugs & Compounds for PTPRN Gene

(6) Drugs for PTPRN Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Phosphate Experimental Pharma 0

(2) Additional Compounds for PTPRN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PTPRN: view

Transcripts for PTPRN Gene

mRNA/cDNA for PTPRN Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTPRN

Alternative Splicing Database (ASD) splice patterns (SP) for PTPRN Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7
SP1: - -
SP2:
SP3: -

Relevant External Links for PTPRN Gene

GeneLoc Exon Structure for
PTPRN

Expression for PTPRN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PTPRN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PTPRN Gene

This gene is overexpressed in Pituitary (x8.2), Brain - Cortex (x6.7), Brain - Hypothalamus (x5.6), Brain - Frontal Cortex (BA9) (x4.7), and Brain - Anterior cingulate cortex (BA24) (x4.6).

Protein differential expression in normal tissues from HIPED for PTPRN Gene

This gene is overexpressed in Islet of Langerhans (41.1), Pancreas (9.4), Frontal cortex (8.9), and Cerebrospinal fluid (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PTPRN Gene



Protein tissue co-expression partners for PTPRN Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PTPRN

SOURCE GeneReport for Unigene cluster for PTPRN Gene:

Hs.89655

mRNA Expression by UniProt/SwissProt for PTPRN Gene:

Q16849-PTPRN_HUMAN
Tissue specificity: Expression is restricted to neuroendocrine cells. Found in pancreas, brain and pituitary.

Evidence on tissue expression from TISSUES for PTPRN Gene

  • Nervous system(5)
  • Pancreas(4.8)
  • Adrenal gland(2.5)
  • Blood(2.4)
  • Lymph node(2.3)
  • Intestine(2)
genes like me logo Genes that share expression patterns with PTPRN: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PTPRN Gene

Orthologs for PTPRN Gene

This gene was present in the common ancestor of animals.

Orthologs for PTPRN Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PTPRN 29 30
  • 99.28 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PTPRN 29 30
  • 90.35 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PTPRN 29 30
  • 89.79 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ptprn 29 16 30
  • 86.01 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ptprn 29
  • 85.79 (n)
Oppossum
(Monodelphis domestica)
Mammalia PTPRN 30
  • 77 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC424201 29
  • 64.92 (n)
PTPRN 30
  • 60 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PTPRN 30
  • 61 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ptprn 29
  • 69.18 (n)
Zebrafish
(Danio rerio)
Actinopterygii ptprnb 29 30
  • 67.68 (n)
OneToMany
ptprna 30
  • 53 (a)
OneToMany
Dr.5278 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9752 29
Fruit Fly
(Drosophila melanogaster)
Insecta ia2 31
  • 60 (a)
IA-2 30
  • 25 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ida-1 30 31
  • 31 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 36 (a)
OneToMany
Species where no ortholog for PTPRN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PTPRN Gene

ENSEMBL:
Gene Tree for PTPRN (if available)
TreeFam:
Gene Tree for PTPRN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PTPRN: view image
Alliance of Genome Resources:
Additional Orthologs for PTPRN

Paralogs for PTPRN Gene

(21) SIMAP similar genes for PTPRN Gene using alignment to 9 proteins:

  • PTPRN_HUMAN
  • C9J392_HUMAN
  • C9JCQ0_HUMAN
  • C9JJL7_HUMAN
  • C9JR27_HUMAN
  • H7C0U9_HUMAN
  • Q7KZS4_HUMAN
  • Q96IA0_HUMAN
  • U3KQ66_HUMAN
genes like me logo Genes that share paralogs with PTPRN: view

Variants for PTPRN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PTPRN Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs13432523 Benign: not provided 219,301,715(-) C/T
NM_002846.4(PTPRN):c.999G>A (p.Ala333=)
SYNONYMOUS
rs143421810 Likely Benign: not provided 219,300,245(-) C/T
NM_002846.4(PTPRN):c.1176G>A (p.Pro392=)
SYNONYMOUS
rs146456787 Likely Benign: not provided 219,296,244(-) G/A
NM_002846.4(PTPRN):c.2490C>T (p.Ser830=)
SYNONYMOUS
rs146536241 Benign: not provided 219,307,517(-) G/A
NM_002846.4(PTPRN):c.207C>T (p.Ala69=)
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
rs35314717 -- p.Ser419Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PTPRN Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PTPRN Gene

Variant ID Type Subtype PubMed ID
nsv508885 CNV insertion 20534489
nsv527936 CNV loss 19592680
nsv584501 CNV loss 21841781
nsv834543 CNV loss 17160897

Variation tolerance for PTPRN Gene

Residual Variation Intolerance Score: 18.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.48; 55.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PTPRN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTPRN
Leiden Open Variation Database (LOVD)
PTPRN

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTPRN Gene

Disorders for PTPRN Gene

MalaCards: The human disease database

(38) MalaCards diseases for PTPRN Gene - From: COP and GCD

Disorder Aliases PubMed IDs
insulinoma
  • insulin-producing tumor of islet cells
type 1 diabetes mellitus
  • t1d
diabetes mellitus
  • diabetes
gestational diabetes
  • gdm
microinvasive cervical squamous cell carcinoma
  • early invasive cervical squamous cell carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search PTPRN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PTPRN_HUMAN
  • Note=Autoantigen in insulin-dependent diabetes mellitus (IDDM). {ECO:0000269 PubMed:8144912, ECO:0000269 PubMed:8641276}.

Additional Disease Information for PTPRN

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PTPRN: view

No data available for Genatlas for PTPRN Gene

Publications for PTPRN Gene

  1. Molecular cloning and identification of a receptor-type protein tyrosine phosphatase, IA-2, from human insulinoma. (PMID: 8024693) Lan MS … Notkins AL (DNA and cell biology 1994) 2 3 4 22
  2. Synergy of glucose and growth hormone signalling in islet cells through ICA512 and STAT5. (PMID: 16622421) Mziaut H … Solimena M (Nature cell biology 2006) 3 4 22
  3. The IA-2 interactome. (PMID: 16273344) Hu YF … Notkins AL (Diabetologia 2005) 3 4 22
  4. Dephosphorylation of beta2-syntrophin and Ca2+/mu-calpain-mediated cleavage of ICA512 upon stimulation of insulin secretion. (PMID: 11483505) Ort T … Solimena M (The EMBO journal 2001) 3 4 22
  5. Islet cell antigen 512 is a diabetes-specific islet autoantigen related to protein tyrosine phosphatases. (PMID: 8144912) Rabin DU … Rae PM (Journal of immunology (Baltimore, Md. : 1950) 1994) 3 4 22

Products for PTPRN Gene

Sources for PTPRN Gene