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Aliases for PTPRN Gene

Aliases for PTPRN Gene

  • Protein Tyrosine Phosphatase, Receptor Type N 2 3 5
  • Islet Cell Antigen 512 2 3 4
  • Insulinoma-Associated Tyrosine-Phosphatase-Like Protein 2 3
  • Islet Cell Autoantigen 3 3 4
  • PTP IA-2 3 4
  • ICA 512 3 4
  • R-PTP-N 3 4
  • ICA512 3 4
  • Receptor-Type Tyrosine-Protein Phosphatase-Like N 3
  • Protein Tyrosine Phosphatase-Like N 3
  • Islet Cell Antigen 2 3
  • 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 and Insulinoma. Among its related pathways are Allograft rejection and PAK Pathway. 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 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

Additional gene information for PTPRN Gene

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

Genomics for PTPRN Gene

GeneHancer (GH) Regulatory Elements for PTPRN Gene

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 1.7 EPDnew Ensembl ENCODE 664.9 +0.7 683 1.7 MLX ZFP64 ARID4B SIN3A SLC30A9 ZNF766 ZNF143 FOS SP3 NFYC PTPRN GLB1L ENSG00000230432
GH02J219294 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 26 +14.8 14801 1.6 HDGF PKNOX1 CLOCK MLX ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 MIR153-1 PTPRN CNOT9 NHEJ1 STK11IP RNF25 ZNF142 CNPPD1 USP37 SLC23A3
GH02J219277 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 14.1 +30.0 30015 4.5 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF143 SP3 NFYC DNAJB2 GC02P219281 PIR48822 TUBA4A NHEJ1 USP37 PTPRN DNPEP CNPPD1 OBSL1
GH02J219244 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.5 +59.5 59530 11.2 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC SSRP1 GLIS1 GLB1L TUBA4A STK16 ZFAND2B LINC00608 LINC01803 ANKZF1 ATG9A DNAJB2 MIR153-1
GH02J219284 Enhancer 1.2 Ensembl ENCODE dbSUPER 16.3 +22.9 22941 3.6 PKNOX1 ATF1 DEAF1 ETS1 ZNF766 GATA2 EGR1 ZNF143 CREM EGR2 GC02M219287 PTPRN GLB1L TUBA4B GC02P219286 PIR34509 DNAJB2
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for PTPRN Gene

Genomic Locations for PTPRN Gene
chr2:219,289,623-219,309,648
(GRCh38/hg38)
Size:
20,026 bases
Orientation:
Minus strand
chr2:220,154,345-220,174,370
(GRCh37/hg19)
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

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 Asn524, posLast=506506, and posLast=441441
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • PTPRN_HUMAN (697)

No data available for DME Specific Peptides for PTPRN Gene

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

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)

Phenotypes From GWAS Catalog for PTPRN Gene

Gene Ontology (GO) - Molecular Function for PTPRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0004725 NOT protein tyrosine phosphatase activity IEA,ISS --
GO:0005515 protein binding IPI 11086001
GO:0008134 transcription factor binding IDA 16622421
GO:0016787 hydrolase activity 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

  • Taconic Biosciences Mouse Models for PTPRN

miRNA for PTPRN Gene

miRTarBase miRNAs that target PTPRN

Clone Products

  • Addgene plasmids for PTPRN

No data available for Enzyme Numbers (IUBMB) , 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
cytosol 2
golgi apparatus 2
extracellular 1
cytoskeleton 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 IDA,IEA 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

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:0000302 response to reactive oxygen species IDA 18048354
GO:0001553 luteinization ISS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006470 protein 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

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

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

(3) Additional Compounds for PTPRN Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14265-44-2
genes like me logo Genes that share compounds with PTPRN: view

Transcripts for PTPRN Gene

mRNA/cDNA for PTPRN Gene

Unigene Clusters for PTPRN Gene

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

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
PTPRN

Expression for PTPRN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of PTPRN Gene:

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)
  • Lymph node(2.4)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with PTPRN: view

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 34 33
  • 99.28 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PTPRN 34 33
  • 90.35 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PTPRN 34 33
  • 89.79 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ptprn 16 34 33
  • 86.01 (n)
rat
(Rattus norvegicus)
Mammalia Ptprn 33
  • 85.79 (n)
oppossum
(Monodelphis domestica)
Mammalia PTPRN 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC424201 33
  • 64.92 (n)
PTPRN 34
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTPRN 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ptprn 33
  • 69.18 (n)
zebrafish
(Danio rerio)
Actinopterygii ptprnb 34 33
  • 67.68 (n)
OneToMany
ptprna 34
  • 53 (a)
OneToMany
Dr.5278 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9752 33
fruit fly
(Drosophila melanogaster)
Insecta ia2 35
  • 60 (a)
IA-2 34
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ida-1 34 35
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
OneToMany
Species where no ortholog for PTPRN was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PTPRN: view image

Paralogs for PTPRN Gene

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 from dbSNP and Humsavar for PTPRN Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000103794 -- 219,300,516(-) A/G intron_variant
rs1000136165 -- 219,300,911(-) G/C intron_variant
rs1000366108 -- 219,307,991(-) C/T intron_variant
rs1000377845 -- 219,292,118(-) G/T intron_variant
rs1000498813 -- 219,289,768(-) G/T 3_prime_UTR_variant

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PTPRN Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
diabetes mellitus
  • diabetes
insulinoma
  • islet cell tumor
diabetes mellitus, insulin-dependent
  • iddm
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

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 58
  3. The IA-2 interactome. (PMID: 16273344) Hu YF … Notkins AL (Diabetologia 2005) 3 4 22 58
  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 58
  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 58

Products for PTPRN Gene

Sources for PTPRN Gene

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