Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PTPRO Gene

Aliases for PTPRO Gene

  • Protein Tyrosine Phosphatase, Receptor Type O 2 3 5
  • Osteoclastic Transmembrane Protein-Tyrosine Phosphatase 2 3
  • Glomerular Epithelial Protein 1 3 4
  • EC 3.1.3.48 4 56
  • PTPase U2 3 4
  • R-PTP-O 3 4
  • GLEPP1 3 4
  • PTP-U2 3 4
  • PTPU2 3 4
  • Receptor-Type Tyrosine-Protein Phosphatase O 3
  • Protein Tyrosine Phosphatase PTP-U2 3
  • Protein Tyrosine Phosphatase U2 4
  • Phosphotyrosine Phosphatase U2 3
  • PTP Phi 3
  • PTP-OC 3
  • PTPROT 3
  • NPHS6 3

External Ids for PTPRO Gene

Previous GeneCards Identifiers for PTPRO Gene

  • GC12P015215
  • GC12P015620
  • GC12P015375
  • GC12P015476

Summaries for PTPRO Gene

Entrez Gene Summary for PTPRO Gene

  • This gene encodes a member of the R3 subtype family of receptor-type protein tyrosine phosphatases. These proteins are localized to the apical surface of polarized cells and may have tissue-specific functions through activation of Src family kinases. This gene contains two distinct promoters, and alternatively spliced transcript variants encoding multiple isoforms have been observed. The encoded proteins may have multiple isoform-specific and tissue-specific functions, including the regulation of osteoclast production and activity, inhibition of cell proliferation and facilitation of apoptosis. This gene is a candidate tumor suppressor, and decreased expression of this gene has been observed in several types of cancer. [provided by RefSeq, May 2011]

GeneCards Summary for PTPRO Gene

PTPRO (Protein Tyrosine Phosphatase, Receptor Type O) is a Protein Coding gene. Diseases associated with PTPRO include Nephrotic Syndrome, Type 6 and Familial Idiopathic Steroid-Resistant Nephrotic Syndrome With Diffuse Mesangial Sclerosis. Among its related pathways are PAK Pathway and Primary Focal Segmental Glomerulosclerosis FSGS. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein tyrosine phosphatase activity. An important paralog of this gene is PTPRB.

UniProtKB/Swiss-Prot for PTPRO Gene

  • Possesses tyrosine phosphatase activity. Plays a role in regulating the glomerular pressure/filtration rate relationship through an effect on podocyte structure and function (By similarity).

Gene Wiki entry for PTPRO Gene

Additional gene information for PTPRO Gene

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

Genomics for PTPRO Gene

GeneHancer (GH) Regulatory Elements for PTPRO Gene

Promoters and enhancers for PTPRO 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
GH12I015544 Promoter/Enhancer 1.6 EPDnew FANTOM5 Ensembl ENCODE 579.2 +224.6 224587 4.3 TRIM22 JUNB PAX8 ELF1 DPF2 ATF2 ZNF217 IKZF1 NBN ATF7 PTPRO LOC105369672 RPS2P42
GH12I015322 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 550.8 +0.2 165 0.4 SP3 ZNF777 ZBTB11 REST HIC1 ZNF335 ZNF213 HDAC2 ZBTB48 POLR2A PTPRO GC12M015338 PIR63058 LOC105369673 RERG
GH12I015273 Enhancer 0.7 ENCODE 11.5 -47.1 -47113 3.2 NCOA3 CTCF PKNOX1 NFIB RB1 RAD21 YY1 ZNF507 FOXM1 CTBP1 PTPRO METTL8P1 LOC105369673 RERG
GH12I015256 Enhancer 0.7 FANTOM5 11 -65.2 -65246 0.2 ZBTB21 JUN MAX RAD21 BRCA1 RFX5 ZNF366 POLR2A RCOR1 NFE2L2 METTL8P1 PTPRO GC12P015252 GC12P015253 LOC105369673 RERG
GH12I015278 Enhancer 0.7 Ensembl ENCODE 10.8 -43.1 -43068 2.1 SREBF1 CTCF JUND POLR2A RCOR1 CHD2 PTPRO METTL8P1 RERG LOC105369673
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PTPRO on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PTPRO gene promoter:

Genomic Locations for PTPRO Gene

Genomic Locations for PTPRO Gene
chr12:15,322,257-15,598,331
(GRCh38/hg38)
Size:
276,075 bases
Orientation:
Plus strand
chr12:15,475,191-15,751,265
(GRCh37/hg19)

Genomic View for PTPRO Gene

Genes around PTPRO on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PTPRO Gene

Proteins for PTPRO Gene

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

    Protein Symbol:
    Q16827-PTPRO_HUMAN
    Recommended name:
    Receptor-type tyrosine-protein phosphatase O
    Protein Accession:
    Q16827
    Secondary Accessions:
    • A0AV39
    • Q13101
    • Q8IYG3
    • Q9UBF0
    • Q9UBT5

    Protein attributes for PTPRO Gene

    Size:
    1216 amino acids
    Molecular mass:
    138344 Da
    Quaternary structure:
    • Interacts (phosphorylated form) with FYN and GRB2.

    Three dimensional structures from OCA and Proteopedia for PTPRO Gene

    Alternative splice isoforms for PTPRO Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PTPRO Gene

Selected DME Specific Peptides for PTPRO Gene

Q16827:
  • VQTEEQY
  • YIATQGP
  • DYINANY
  • WPDHGVP

Post-translational modifications for PTPRO Gene

  • Glycosylation at Asn75, Asn154, Asn189, Asn201, Asn227, isoforms=2, 5278, Asn287, isoforms=2, 5323, Asn324, Asn370, isoforms=2, 5461, isoforms=2, 5490, isoforms=2700, isoforms=2712, and Asn733

Domains & Families for PTPRO Gene

Gene Families for PTPRO Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

Q16827

UniProtKB/Swiss-Prot:

PTPRO_HUMAN :
  • Belongs to the protein-tyrosine phosphatase family. Receptor class 3 subfamily.
Family:
  • Belongs to the protein-tyrosine phosphatase family. Receptor class 3 subfamily.
genes like me logo Genes that share domains with PTPRO: view

Function for PTPRO Gene

Molecular function for PTPRO Gene

GENATLAS Biochemistry:
protein tyrosine phosphatase,receptor type,U2 polypeptide,identical to PTPU2-LSB from glomerular epithelial podocyte membrane protein
UniProtKB/Swiss-Prot CatalyticActivity:
Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
UniProtKB/Swiss-Prot Function:
Possesses tyrosine phosphatase activity. Plays a role in regulating the glomerular pressure/filtration rate relationship through an effect on podocyte structure and function (By similarity).
UniProtKB/Swiss-Prot Induction:
By various differentiation-inducing agents.

Enzyme Numbers (IUBMB) for PTPRO Gene

Phenotypes From GWAS Catalog for PTPRO Gene

Gene Ontology (GO) - Molecular Function for PTPRO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0004725 protein tyrosine phosphatase activity IEA,TAS 10498613
GO:0005001 transmembrane receptor protein tyrosine phosphatase activity NAS 7665166
GO:0005515 protein binding IPI 19167335
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PTPRO: view
genes like me logo Genes that share phenotypes with PTPRO: view

Human Phenotype Ontology for PTPRO Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PTPRO Gene

MGI Knock Outs for PTPRO:

Animal Model Products

CRISPR Products

miRNA for PTPRO Gene

miRTarBase miRNAs that target PTPRO

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for PTPRO Gene

Localization for PTPRO Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTPRO Gene

Membrane; Single-pass type I membrane protein.

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 PTPRO gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 2
cytosol 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for PTPRO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane ISS --
GO:0005887 integral component of plasma membrane NAS 7665166
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS 10498613
GO:0016324 apical plasma membrane ISS --
genes like me logo Genes that share ontologies with PTPRO: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PTPRO Gene

Pathways & Interactions for PTPRO Gene

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

Pathways by source for PTPRO Gene

Gene Ontology (GO) - Biological Process for PTPRO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis ISS --
GO:0002548 monocyte chemotaxis IMP 19233845
GO:0003093 regulation of glomerular filtration ISS --
GO:0003105 negative regulation of glomerular filtration ISS --
GO:0006470 protein dephosphorylation IEA,TAS 10498613
genes like me logo Genes that share ontologies with PTPRO: view

No data available for SIGNOR curated interactions for PTPRO Gene

Drugs & Compounds for PTPRO Gene

(3) Drugs for PTPRO Gene - From: HMDB and Novoseek

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

(2) Additional Compounds for PTPRO 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
genes like me logo Genes that share compounds with PTPRO: view

Transcripts for PTPRO Gene

Unigene Clusters for PTPRO Gene

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

CRISPR Products

Clone Products

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1:
SP2: -
SP3: -
SP4:
SP5:

ExUns: 25a · 25b ^ 26
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for PTPRO Gene

GeneLoc Exon Structure for
PTPRO
ECgene alternative splicing isoforms for
PTPRO

Expression for PTPRO Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x5.8) and Kidney - Cortex (x5.6).

Protein differential expression in normal tissues from HIPED for PTPRO Gene

This gene is overexpressed in Urine (55.9) and Pancreas (11.9).

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



Protein tissue co-expression partners for PTPRO Gene

NURSA nuclear receptor signaling pathways regulating expression of PTPRO Gene:

PTPRO

SOURCE GeneReport for Unigene cluster for PTPRO Gene:

Hs.160871

mRNA Expression by UniProt/SwissProt for PTPRO Gene:

Q16827-PTPRO_HUMAN
Tissue specificity: Glomerulus of kidney. Also detected in brain, lung and placenta.

Evidence on tissue expression from TISSUES for PTPRO Gene

  • Nervous system(4.9)
  • Kidney(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PTPRO Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • lung
Abdomen:
  • kidney
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with PTPRO: view

Orthologs for PTPRO Gene

This gene was present in the common ancestor of animals.

Orthologs for PTPRO Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PTPRO 33 34
  • 99.67 (n)
dog
(Canis familiaris)
Mammalia PTPRO 33 34
  • 91.83 (n)
cow
(Bos Taurus)
Mammalia PTPRO 33 34
  • 91.15 (n)
oppossum
(Monodelphis domestica)
Mammalia PTPRO 34
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ptpro 33 16 34
  • 85.22 (n)
rat
(Rattus norvegicus)
Mammalia Ptpro 33
  • 84.37 (n)
chicken
(Gallus gallus)
Aves PTPRO 33 34
  • 79.03 (n)
lizard
(Anolis carolinensis)
Reptilia PTPRO 34
  • 83 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ptpro 33 34
  • 61.58 (n)
lar 33
fruit fly
(Drosophila melanogaster)
Insecta Ptp52F 35
  • 36 (a)
Ptp10D 34
  • 17 (a)
ManyToMany
Ptp4E 34
  • 16 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea M04G7.2 35
  • 38 (a)
ZK616.7 35
  • 38 (a)
C17H12.3 35
  • 32 (a)
F36H12.10 35
  • 32 (a)
F47B3.1 35
  • 29 (a)
F47B3.6 35
  • 29 (a)
dep-1 34
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 28 (a)
OneToMany
-- 34
  • 19 (a)
OneToMany
-- 34
  • 19 (a)
OneToMany
-- 34
  • 18 (a)
OneToMany
-- 34
  • 18 (a)
OneToMany
-- 34
  • 18 (a)
OneToMany
-- 34
  • 16 (a)
OneToMany
-- 34
  • 15 (a)
OneToMany
Species where no ortholog for PTPRO 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PTPRO Gene

ENSEMBL:
Gene Tree for PTPRO (if available)
TreeFam:
Gene Tree for PTPRO (if available)

Paralogs for PTPRO Gene

Paralogs for PTPRO Gene

(14) SIMAP similar genes for PTPRO Gene using alignment to 4 proteins:

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

Variants for PTPRO Gene

Sequence variations from dbSNP and Humsavar for PTPRO Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000008393 -- 15,589,152(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000009567 -- 15,500,709(+) G/T genic_upstream_transcript_variant, intron_variant
rs1000036998 -- 15,467,608(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000047294 -- 15,582,035(+) G/C genic_downstream_transcript_variant, intron_variant
rs1000050846 -- 15,455,218(+) T/C genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
esv1437894 CNV deletion 17803354
esv2421342 CNV deletion 20811451
esv2669816 CNV deletion 23128226
esv2745589 CNV deletion 23290073
esv2745590 CNV deletion 23290073
esv2745591 CNV deletion 23290073
esv27762 CNV loss 19812545
esv3307485 CNV mobile element insertion 20981092
esv33461 CNV gain 17666407
esv3430397 CNV insertion 20981092
esv3628669 CNV loss 21293372
esv3628670 CNV loss 21293372
esv3628671 CNV loss 21293372
esv3628672 CNV loss 21293372
esv3628674 CNV loss 21293372
nsv1138108 CNV deletion 24896259
nsv1148475 CNV deletion 26484159
nsv442257 CNV loss 18776908
nsv469121 CNV loss 19166990
nsv470270 CNV loss 18288195
nsv498781 CNV loss 21111241
nsv514655 CNV loss 21397061
nsv517475 CNV loss 19592680
nsv557614 CNV loss 21841781
nsv622 CNV deletion 18451855
nsv975455 CNV duplication 23825009

Variation tolerance for PTPRO Gene

Residual Variation Intolerance Score: 4.92% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.86; 48.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PTPRO Gene

Human Gene Mutation Database (HGMD)
PTPRO
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTPRO

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

Disorders for PTPRO Gene

MalaCards: The human disease database

(9) MalaCards diseases for PTPRO Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

PTPRO_HUMAN
  • Nephrotic syndrome 6 (NPHS6) [MIM:614196]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. {ECO:0000269 PubMed:21722858}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PTPRO

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 PTPRO: view

No data available for Genatlas for PTPRO Gene

Publications for PTPRO Gene

  1. Molecular cloning of cDNAs encoding human GLEPP1, a membrane protein tyrosine phosphatase: characterization of the GLEPP1 protein distribution in human kidney and assignment of the GLEPP1 gene to human chromosome 12p12-p13. (PMID: 7665166) Wiggins RC … Thomas PE (Genomics 1995) 2 3 4 22 58
  2. Disruption of PTPRO causes childhood-onset nephrotic syndrome. (PMID: 21722858) Ozaltin F … PodoNet Consortium (American journal of human genetics 2011) 2 3 4 58
  3. PTPROt: an alternatively spliced and developmentally regulated B-lymphoid phosphatase that promotes G0/G1 arrest. (PMID: 10498613) Aguiar RC … Shipp MA (Blood 1999) 3 4 22 58
  4. Genome-wide study identifies PTPRO and WDR72 and FOXQ1-SUMO1P1 interaction associated with neurocognitive function. (PMID: 22126837) LeBlanc M … Andreassen OA (Journal of psychiatric research 2012) 3 44 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for PTPRO Gene

Sources for PTPRO Gene

Content
Loading form....