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Aliases for PTPRN Gene

Aliases for PTPRN Gene

  • Protein Tyrosine Phosphatase, Receptor Type, N 2 3
  • Islet Cell Autoantigen 3 3 4
  • Islet Cell Antigen 512 3 4
  • PTP IA-2 3 4
  • ICA 512 3 4
  • R-PTP-N 3 4
  • ICA512 3 4
  • Protein Tyrosine Phosphatase-Like N 3
  • Islet Cell Antigen 2 3
  • EC 3.1.3.48 63
  • IA-2/PTP 3
  • IA-2 3
  • 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 microinvasive cervical squamous cell carcinoma and maternally inherited diabetes and deafness. Among its related pathways are PAK Pathway and Allograft rejection. GO annotations related to this gene include phosphatase activity and spectrin binding. An important paralog of this gene is PTPN6.

UniProtKB/Swiss-Prot for PTPRN Gene

  • Implicated in neuroendocrine secretory processes. May be involved in processes specific for neurosecretory granules, such as their biogenesis, trafficking or regulated exocytosis or may have a general role in neuroendocrine functions. Seems to lack intrinsic enzyme activity. May play a role in the regulation of secretory granules via its interaction with SNTB2.

Gene Wiki entry for PTPRN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTPRN Gene

Genomics for PTPRN Gene

Regulatory Elements for PTPRN Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PTPRN Gene

Chromosome:
2
Start:
219,289,623 bp from pter
End:
219,309,648 bp from pter
Size:
20,026 bases
Orientation:
Minus strand

Genomic View for PTPRN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    • Interacts with phosphorylated SNTB2, protecting it from protein cleavage by CAPN1. Dephosphorylation of SNTB2 upon insulin stimulation disrupts the interaction and results in its cleavage.
    Miscellaneous:
    • Autoantigen in insulin-dependent diabetes mellitus (IDDM)

    Three dimensional structures from OCA and Proteopedia for PTPRN Gene

    Alternative splice isoforms for PTPRN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PTPRN Gene

Proteomics data for PTPRN Gene at MOPED

Selected DME Specific Peptides for PTPRN Gene

Post-translational modifications for PTPRN Gene

  • Appears to undergo multiple proteolytic cleavage at consecutive basic residues.
  • O-glycosylated with core 1 or possibly core 8 glycans.
  • Glycosylation at Thr 441, Asn 506, and Asn 524
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cloud-Clone Corp. Antibodies for PTPRN

Domains & Families for PTPRN Gene

Gene Families for PTPRN Gene

Suggested Antigen Peptide Sequences for PTPRN Gene

Graphical View of Domain Structure for InterPro Entry

Q16849

UniProtKB/Swiss-Prot:

PTPRN_HUMAN :
  • Contains 1 tyrosine-protein phosphatase domain.
  • Belongs to the protein-tyrosine phosphatase family. Receptor class 8 subfamily.
Domain:
  • Contains 1 tyrosine-protein phosphatase domain.
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

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)
UniProtKB/Swiss-Prot Function:
Implicated in neuroendocrine secretory processes. May be involved in processes specific for neurosecretory granules, such as their biogenesis, trafficking or regulated exocytosis or may have a general role in neuroendocrine functions. Seems to lack intrinsic enzyme activity. May play a role in the regulation of secretory granules via its interaction with SNTB2.

Enzyme Numbers (IUBMB) 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 ISS --
GO:0005515 protein binding IPI 11086001
GO:0016791 phosphatase activity --
GO:0030507 spectrin binding IPI 11086001
GO:0051020 GTPase binding IEA --
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 Model Products

miRNA for PTPRN Gene

miRTarBase miRNAs that target PTPRN

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PTPRN

In Situ Assay Products

Flow Cytometry Products

No data available for 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. Note=Neuroendocrine secretory granules.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PTPRN Gene COMPARTMENTS Subcellular localization image for PTPRN gene
Compartment Confidence
cytosol 2
chloroplast 1
cytoskeleton 1
mitochondrion 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PTPRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell --
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

genes like me logo Genes that share pathways with PTPRN: view

Pathways by source for PTPRN Gene

1 Qiagen pathway for PTPRN Gene
1 KEGG pathway for PTPRN Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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 --
GO:0016311 dephosphorylation --
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

(3) Drugs for PTPRN Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cyclosporin A Pharma Inhibition, Inhibitor Immunosuppressive agent, Calcineurin inhibitor 0
arginine Nutra 346
tyrosine Nutra 547

(5) Additional Compounds for PTPRN Gene - From: HMDB and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
C-Peptide
glucose
glutamate
genes like me logo Genes that share compounds with PTPRN: view

Transcripts for PTPRN Gene

Unigene Clusters for PTPRN Gene

Protein tyrosine phosphatase, receptor type, N:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PTPRN

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
PTPRN

Expression for PTPRN Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for PTPRN Gene



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.
genes like me logo Genes that share expression patterns with PTPRN: view

Protein tissue co-expression partners for PTPRN Gene

Primer Products

In Situ Assay Products

Orthologs for PTPRN Gene

This gene was present in the common ancestor of animals.

Orthologs for PTPRN Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PTPRN 35
  • 89.79 (n)
  • 90.56 (a)
PTPRN 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PTPRN 35
  • 90.35 (n)
  • 91.15 (a)
PTPRN 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ptprn 35
  • 86.01 (n)
  • 87.76 (a)
Ptprn 16
Ptprn 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PTPRN 35
  • 99.28 (n)
  • 99.36 (a)
PTPRN 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ptprn 35
  • 85.79 (n)
  • 87.66 (a)
oppossum
(Monodelphis domestica)
Mammalia PTPRN 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC424201 35
  • 64.92 (n)
  • 59.67 (a)
PTPRN 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTPRN 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ptprn 35
  • 69.18 (n)
  • 70.57 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.5278 35
ptprnb 35
  • 67.68 (n)
  • 70.23 (a)
ptprna 36
  • 53 (a)
OneToMany
ptprnb 36
  • 49 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9752 35
fruit fly
(Drosophila melanogaster)
Insecta ia2 37
  • 60 (a)
IA-2 36
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ida-1 37
  • 38 (a)
ida-1 36
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToMany
Species with no ortholog for PTPRN:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for PTPRN Gene

genes like me logo Genes that share paralogs with PTPRN: view

Variants for PTPRN Gene

Sequence variations from dbSNP and Humsavar for PTPRN Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs370898020 -- 219,296,794(+) CTCTC(C/T)ACCTT synonymous-codon, reference
rs370887343 -- 219,302,768(+) GGGGC(A/G)GAGCC reference, synonymous-codon
rs370620875 -- 219,300,103(+) TGTCA(C/G)AGGGG missense, reference
rs370618241 -- 219,311,521(+) GTAAA(C/T)TAGAA upstream-variant-2KB
rs370597001 -- 219,299,001(+) GACAA(C/T)ATCAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834543 CNV Loss 17160897
nsv508885 CNV Insertion 20534489
nsv527936 CNV Loss 19592680

Variation tolerance for PTPRN Gene

Residual Variation Intolerance Score: 18.76% 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)

Relevant External Links for PTPRN Gene

HapMap Linkage Disequilibrium report
PTPRN

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

Disorders for PTPRN Gene

MalaCards: The human disease database

(11) MalaCards diseases for PTPRN Gene - From: DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
microinvasive cervical squamous cell carcinoma
  • early invasive cervical squamous cell carcinoma
maternally inherited diabetes and deafness
  • ballinger wallace syndrome
hemometra
  • hematometra
fallopian tube adenocarcinoma
  • adenocarcinoma of the fallopian tube
insulinoma
  • islet cell tumor
- elite association
Search PTPRN in MalaCards View complete list of genes associated with diseases

Relevant External Links for PTPRN

Genetic Association Database (GAD)
PTPRN
Human Genome Epidemiology (HuGE) Navigator
PTPRN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PTPRN
genes like me logo Genes that share disorders with PTPRN: view

No data available for UniProtKB/Swiss-Prot and 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 M.S. … Notkins A.L. (DNA Cell Biol. 1994) 2 23 67
  2. IFN-gamma and IL-10 islet-antigen-specific T cell responses in autoantibody-negative first-degree relatives of patients with type 1 diabetes. (PMID: 20369219) Petrich de Marquesini L.G. … Dayan C.M. (Diabetologia 2010) 23 67
  3. [Fulminant type 1 diabetes mellitus]. (PMID: 20408439) Imagawa A. … Hanafusa T. (Rinsho Byori 2010) 23 67
  4. Anti-ganglioside autoantibodies in type 1 diabetes. (PMID: 19768773) Lucchetta M. … Briani C. (Muscle Nerve 2010) 23 67
  5. IA-2 modulates dopamine secretion in PC12 cells. (PMID: 19799965) Nishimura T. … Notkins A.L. (Mol. Cell. Endocrinol. 2010) 23 67

Products for PTPRN Gene

Sources for PTPRN Gene

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