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 obs... See more...

Aliases for PTPRO Gene

Aliases for PTPRO Gene

  • Protein Tyrosine Phosphatase Receptor Type O 2 3 5
  • GLEPP1 2 3 4
  • PTP-U2 2 3 4
  • PTPU2 2 3 4
  • Osteoclastic Transmembrane Protein-Tyrosine Phosphatase 2 3
  • Receptor-Type Tyrosine-Protein Phosphatase O 3 4
  • Glomerular Epithelial Protein 1 3 4
  • EC 3.1.3.48 4 50
  • PTPase U2 3 4
  • R-PTP-O 3 4
  • NPHS6 2 3
  • Protein Tyrosine Phosphatase PTP-U2 3
  • Protein Tyrosine Phosphatase U2 4
  • Phosphotyrosine Phosphatase U2 3
  • PTP Phi 3
  • PTP-OC 3
  • PTPROT 3
  • PTP-Oc 2
  • PTPRO 5

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 Genetic Steroid-Resistant Nephrotic Syndrome. Among its related pathways are Primary Focal Segmental Glomerulosclerosis FSGS and PAK Pathway. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein tyrosine phosphatase activity. An important paralog of this gene is PTPRJ.

UniProtKB/Swiss-Prot Summary 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

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

Genomics for PTPRO Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH12J015322 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.9 877 2.1 POLR2A ZNF341 SIN3A REST ZNF610 ZBTB48 CTCF TAF1 MIER2 HDAC2 HSALNG0089550 PTPRO piR-40013 RERG
GH12J015545 Promoter/Enhancer 1.5 EPDnew FANTOM5 Ensembl ENCODE 279.2 +224.7 224689 4.1 TRIM22 MAFF SPI1 ELF1 TCF7 ATF2 JUNB MAFK ZNF217 ARID3A PTPRO HSALNG0089553 LOC105369672 RERG EPS8
GH12J015273 Enhancer 0.9 Ensembl ENCODE 11.5 -47.1 -47113 3.2 ZNF654 YY1 REST TRIM22 CTCF MBD2 CTBP1 RAD21 SMC3 ZNF217 PTPRO piR-39858-108 HSALNG0089548-002 RERG PDE6H
GH12J015256 Enhancer 0.8 FANTOM5 Ensembl 11 -65.3 -65291 0.7 BRCA1 CEBPB MAX EP300 RAD21 RFX5 STAT3 TCF7L2 MAFF NFE2L2 HSALNG0089548-001 METTL8P1 lnc-ARHGDIB-5 PTPRO HSALNG0089549 RERG PDE6H
GH12J015212 Enhancer 0.7 dbSUPER 10.4 -107.4 -107412 4 JUND FEZF1 ZNF217 MBD2 FOXA2 CTBP1 CUX1 ZNF843 PRDM6 GATA3 PTPRO MK280144-104 lnc-ARHGDIB-4 RERG PDE6H
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the PTPRO gene promoter:
  • AREB6
  • Evi-1
  • FOXC1
  • HSF2
  • ITF-2
  • Lmo2
  • POU2F1
  • POU2F1a
  • Tal-1beta
  • TBP

Genomic Locations for PTPRO Gene

Latest Assembly
chr12:15,322,257-15,602,175
(GRCh38/hg38)
Size:
279,919 bases
Orientation:
Plus strand

Previous Assembly
chr12:15,475,442-15,751,265
(GRCh37/hg19 by Entrez Gene)
Size:
275,824 bases
Orientation:
Plus strand

chr12:15,475,331-15,750,333
(GRCh37/hg19 by Ensembl)
Size:
275,003 bases
Orientation:
Plus strand

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.
    Miscellaneous:
    • [Isoform 3]: Predominantly expressed in B-lymphoid tissues.

    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, Asn278, Asn287, Asn323, Asn324, Asn370, Asn461, Asn490, Asn700, Asn712, and Asn733
  • Modification sites at PhosphoSitePlus

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

Protein Domains for PTPRO Gene

Suggested Antigen Peptide Sequences for PTPRO Gene

GenScript: Design optimal peptide antigens:
  • Protein tyrosine phosphatase U2 (PTPRO_HUMAN)
  • cDNA FLJ75464, highly similar to Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 6, mRNA (Q9UBT5_HUMAN)

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

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 CatalyticActivity:
Reaction=H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate; Xref=Rhea:RHEA:10684, Rhea:RHEA-COMP:10136, Rhea:RHEA-COMP:10137, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620; EC=3.1.3.48; Evidence={ECO:0000255|PROSITE-ProRule:PRU10044};.
UniProtKB/Swiss-Prot Induction:
By various differentiation-inducing agents.
GENATLAS Biochemistry:
protein tyrosine phosphatase,receptor type,U2 polypeptide,identical to PTPU2-LSB from glomerular epithelial podocyte membrane protein

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:

Inhibitory RNAs for research

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

Clone products for research

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 4
nucleus 3
cytoskeleton 2
cytosol 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PTPRO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA,ISS --
GO:0005887 integral component of plasma membrane NAS 7665166
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,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

1 Qiagen pathway for PTPRO Gene
  • Epithelial Adherens Junctions

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 IBA,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
Water Approved Pharma 0
Phosphate Experimental Pharma 0

(1) Additional Compounds for PTPRO Gene - From: Novoseek

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

Transcripts for PTPRO Gene

mRNA/cDNA for PTPRO Gene

6 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
26 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 PTPRO

Clone products for research

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

Expression for PTPRO Gene

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



Protein tissue co-expression partners for PTPRO Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
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 29 30
  • 99.67 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PTPRO 29 30
  • 91.83 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PTPRO 29 30
  • 91.15 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PTPRO 30
  • 88 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Ptpro 29 16 30
  • 85.22 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ptpro 29
  • 84.37 (n)
Chicken
(Gallus gallus)
Aves PTPRO 29 30
  • 79.03 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PTPRO 30
  • 83 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii ptpro 29 30
  • 61.58 (n)
OneToOne
lar 29
Fruit Fly
(Drosophila melanogaster)
Insecta Ptp52F 31
  • 36 (a)
Ptp10D 30
  • 17 (a)
ManyToMany
Ptp4E 30
  • 16 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea M04G7.2 31
  • 38 (a)
ZK616.7 31
  • 38 (a)
C17H12.3 31
  • 32 (a)
F36H12.10 31
  • 32 (a)
F47B3.1 31
  • 29 (a)
F47B3.6 31
  • 29 (a)
dep-1 30
  • 19 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 28 (a)
OneToMany
-- 30
  • 19 (a)
OneToMany
-- 30
  • 19 (a)
OneToMany
-- 30
  • 18 (a)
OneToMany
-- 30
  • 18 (a)
OneToMany
-- 30
  • 18 (a)
OneToMany
-- 30
  • 16 (a)
OneToMany
-- 30
  • 15 (a)
OneToMany
Species where no ortholog for PTPRO 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PTPRO: view image
Alliance of Genome Resources:
Additional Orthologs for PTPRO

Paralogs for PTPRO Gene

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

  • PTPRO_HUMAN
  • H0YH11_HUMAN
  • H0YH60_HUMAN
  • Q8IYG3_HUMAN
genes like me logo Genes that share paralogs with PTPRO: view

Variants for PTPRO Gene

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

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
1028900 Uncertain Significance: Nephrotic syndrome, type 6 15,516,910(+) C/T
NM_030667.3(PTPRO):c.1733C>T (p.Thr578Ile)
MISSENSE
1032235 Uncertain Significance: Nephrotic syndrome, type 6 15,520,213(+) C/G
NM_030667.3(PTPRO):c.1792C>G (p.Leu598Val)
MISSENSE
981947 Drug Response: Corticosteroid response 15,503,898(+) T/A
NM_030667.3(PTPRO):c.1106-10T>A
INTRON
981948 Drug Response: Corticosteroid response 15,589,541(+) G/C
NM_030667.3(PTPRO):c.3497G>C (p.Gly1166Ala)
MISSENSE
rs116693321 Benign: not provided 15,569,506(+) G/A
NM_030667.3(PTPRO):c.2829+8G>A
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PTPRO 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 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
Leiden Open Variation Database (LOVD)
PTPRO

SNP Genotyping and Copy Number Assays for research

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

Disorders for PTPRO Gene

MalaCards: The human disease database

(10) MalaCards diseases for PTPRO Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
nephrotic syndrome, type 6
  • nphs6
genetic steroid-resistant nephrotic syndrome
  • familial idiopathic nephrotic syndrome
focal segmental glomerulosclerosis
  • fgs
nephrotic syndrome
  • finnish congenital nephrotic syndrome
crescentic glomerulonephritis
  • idiopathic crescentic glomerulonephritis
- elite association - COSMIC cancer census association via MalaCards
Search PTPRO in MalaCards View complete list of genes associated with diseases

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 variants affecting the gene represented in this entry.

Additional Disease Information for PTPRO

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 PTPRO: view

No data available for Genatlas for PTPRO Gene

Publications for PTPRO Gene

  1. Disruption of PTPRO causes childhood-onset nephrotic syndrome. (PMID: 21722858) Ozaltin F … PodoNet Consortium (American journal of human genetics 2011) 2 3 4 72
  2. 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
  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
  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 40
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 40

Products for PTPRO Gene

Sources for PTPRO Gene