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Aliases for PTPRN Gene

Aliases for PTPRN Gene

  • Protein Tyrosine Phosphatase, Receptor Type N 2 3
  • Protein Tyrosine Phosphatase, Receptor Type, N 3 5
  • 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 Diabetes Mellitus, Insulin-Dependent and Insulinoma. Among its related pathways are Allograft rejection and PAK Pathway. GO annotations related to this gene include phosphatase activity and spectrin binding. An important paralog of this gene is PTPRN2.

UniProtKB/Swiss-Prot 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). Seems to lack intrinsic enzyme activity (By similarity).

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

Enhancers for PTPRN Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PTPRN on UCSC Golden Path with GeneCards custom track

Promoters for PTPRN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PTPRN on UCSC Golden Path with GeneCards custom track

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

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 (PubMed:25561468). Interacts with phosphorylated SNTB2; this protects PTPRN against cleavage by CAPN1. Dephosphorylation of SNTB2 upon insulin stimulation disrupts the interaction and results in PTPRN cleavage (PubMed:11483505). Interacts with SNX19 (PubMed:16273344).

    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

  • 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).
  • 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:
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). Seems to lack intrinsic enzyme activity (By similarity).

Enzyme Numbers (IUBMB) for PTPRN Gene

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

Animal Models for PTPRN Gene

MGI Knock Outs for PTPRN:

Animal Model Products

  • Taconic Biosciences Mouse Models for PTPRN

miRNA for PTPRN Gene

miRTarBase miRNAs that target PTPRN

No data available for Gene Ontology (GO) - Molecular Function , 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}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PTPRN Gene COMPARTMENTS Subcellular localization image for PTPRN gene
Compartment Confidence
plasma membrane 4
endosome 3
cytosol 2
golgi apparatus 2
chloroplast 1
cytoskeleton 1
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for PTPRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 colocalizes_with endosome ISS --
GO:0016021 integral component of membrane IEA --
GO:0030658 transport vesicle membrane IEA --
GO:0043204 perikaryon IEA --
GO:0043679 axon terminus 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 KEGG pathway for PTPRN Gene
1 Qiagen pathway for PTPRN Gene

Gene Ontology (GO) - Biological Process for PTPRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation IEA --
GO:0019221 cytokine-mediated signaling pathway IEA --
GO:0032868 response to insulin IEA --
GO:0035335 peptidyl-tyrosine dephosphorylation IEA --
GO:0035773 insulin secretion involved in cellular response to glucose stimulus ISS --
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

(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
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:

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

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

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
rs35314717 - 219,300,164(+) ACTTC(A/C)CTGGA reference, missense
rs1983297 -- 219,291,424(-) GTGTG(C/T)GTCTC intron-variant
rs1983298 -- 219,291,112(-) CCCAA(A/G)TGACA intron-variant
rs1051727 -- 219,298,045(-) GCGCT(C/T)AGTGC intron-variant, reference, missense
rs3192111 -- 219,289,730(-) CTCCC(A/C)CCATG utr-variant-3-prime

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: 18.8% 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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for PTPRN Gene

Disorders for PTPRN Gene

MalaCards: The human disease database

(14) MalaCards diseases for PTPRN Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
diabetes mellitus, insulin-dependent
  • diabetes, type 1
insulinoma
  • islet cell tumor
gestational diabetes
  • gdm
microinvasive cervical squamous cell carcinoma
  • early invasive cervical squamous cell carcinoma
maternally inherited diabetes and deafness
  • ballinger wallace syndrome
- 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}.

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 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 3 4 23 67
  2. Triple chimeric islet autoantigen IA2-ZnT8WR to facilitate islet autoantibody determination. (PMID: 20035758) Yu L. … Eisenbarth G.S. (J. Immunol. Methods 2010) 3 23
  3. Evidence for molecular mimicry between human T cell epitopes in rotavirus and pancreatic islet autoantigens. (PMID: 20083660) Honeyman M.C. … Harrison L.C. (J. Immunol. 2010) 3 23
  4. The IA-2 interactome. (PMID: 16273344) Hu Y.F. … Notkins A.L. (Diabetologia 2005) 3 23
  5. Fine mapping of diabetes-associated IA-2 specific autoantibodies. (PMID: 14624760) Bearzatto M. … Bonifacio E. (J. Autoimmun. 2003) 3 23

Products for PTPRN Gene

Sources for PTPRN Gene

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