Human Gene PTPRO (ENST00000281171.9_7) from GENCODE V47lift37
  Description: protein tyrosine phosphatase receptor type O, transcript variant 1 (from RefSeq NM_030667.3)
Gencode Transcript: ENST00000281171.9_7
Gencode Gene: ENSG00000151490.15_20
Transcript (Including UTRs)
   Position: hg19 chr12:15,475,442-15,751,265 Size: 275,824 Total Exon Count: 27 Strand: +
Coding Region
   Position: hg19 chr12:15,475,661-15,747,975 Size: 272,315 Coding Exon Count: 26 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:15,475,442-15,751,265)mRNA (may differ from genome)Protein (1216 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PTPRO_HUMAN
DESCRIPTION: RecName: Full=Receptor-type tyrosine-protein phosphatase O; Short=R-PTP-O; EC=3.1.3.48; AltName: Full=Glomerular epithelial protein 1; AltName: Full=Protein tyrosine phosphatase U2; Short=PTP-U2; Short=PTPase U2; Flags: Precursor;
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).
CATALYTIC ACTIVITY: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
INTERACTION: P04626:ERBB2; NbExp=2; IntAct=EBI-723739, EBI-641062; Q02763:TEK; NbExp=2; IntAct=EBI-723739, EBI-2257090;
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
TISSUE SPECIFICITY: Glomerulus of kidney. Also detected in brain, lung and placenta.
INDUCTION: By various differentiation-inducing agents.
DISEASE: Defects in PTPRO are the cause of nephrotic syndrome type 6 (NPHS6) [MIM:614196]. NPHS6 is a renal disease characterized clinically by proteinuria, 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.
SIMILARITY: Belongs to the protein-tyrosine phosphatase family. Receptor class 3 subfamily.
SIMILARITY: Contains 8 fibronectin type-III domains.
SIMILARITY: Contains 1 tyrosine-protein phosphatase domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PTPRO
Diseases sorted by gene-association score: nephrotic syndrome, type 6* (1000), familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis* (350), familial idiopathic steroid-resistant nephrotic syndrome with minimal changes* (350), familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation* (350), glomerulosclerosis, focal segmental, 1* (117), focal segmental glomerulosclerosis (16), nephrotic syndrome (11), crescentic glomerulonephritis (7), wilms tumor susceptibility-5 (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.58 RPKM in Kidney - Cortex
Total median expression: 55.35 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -96.80219-0.442 Picture PostScript Text
3' UTR -640.302258-0.284 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003961 - Fibronectin_type3
IPR013783 - Ig-like_fold
IPR000387 - Tyr/Dual-specificity_Pase
IPR016130 - Tyr_Pase_AS
IPR000242 - Tyr_Pase_rcpt/non-rcpt

Pfam Domains:
PF00041 - Fibronectin type III domain
PF00102 - Protein-tyrosine phosphatase
PF13350 - Tyrosine phosphatase family

SCOP Domains:
49363 - Purple acid phosphatase, N-terminal domain
49265 - Fibronectin type III
52799 - (Phosphotyrosine protein) phosphatases II

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2G59 - X-ray MuPIT 2GJT - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q16827
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004721 phosphoprotein phosphatase activity
GO:0004725 protein tyrosine phosphatase activity
GO:0005001 transmembrane receptor protein tyrosine phosphatase activity
GO:0005515 protein binding
GO:0016787 hydrolase activity
GO:0016791 phosphatase activity
GO:0017147 Wnt-protein binding
GO:0042803 protein homodimerization activity

Biological Process:
GO:0000902 cell morphogenesis
GO:0002548 monocyte chemotaxis
GO:0003093 regulation of glomerular filtration
GO:0003105 negative regulation of glomerular filtration
GO:0006470 protein dephosphorylation
GO:0007411 axon guidance
GO:0010812 negative regulation of cell-substrate adhesion
GO:0010977 negative regulation of neuron projection development
GO:0016311 dephosphorylation
GO:0030032 lamellipodium assembly
GO:0032835 glomerulus development
GO:0035335 peptidyl-tyrosine dephosphorylation
GO:0036060 slit diaphragm assembly
GO:0072112 glomerular visceral epithelial cell differentiation
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:0090260 negative regulation of retinal ganglion cell axon guidance

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0016328 lateral plasma membrane
GO:0030027 lamellipodium
GO:0030424 axon
GO:0030426 growth cone
GO:0043005 neuron projection
GO:0043197 dendritic spine
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AK289784 - Homo sapiens cDNA FLJ77252 complete cds, highly similar to Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.
U20489 - Human glomerular epithelial protein 1 (GLEPP1) mRNA, complete cds.
BC126201 - Homo sapiens protein tyrosine phosphatase, receptor type, O, mRNA (cDNA clone MGC:161479 IMAGE:8991917), complete cds.
BC126203 - Homo sapiens protein tyrosine phosphatase, receptor type, O, mRNA (cDNA clone MGC:161481 IMAGE:8991919), complete cds.
Z48541 - H.sapiens mRNA for protein tyrosine phosphatase.
E12033 - cDNA encoding human novel tyrosine phosphatase,PTP-U2.
KJ891951 - Synthetic construct Homo sapiens clone ccsbBroadEn_01345 PTPRO gene, encodes complete protein.
AF152378 - Homo sapiens protein tyrosine phosphatase receptor-type O truncated PTPROT mRNA, complete cds.
AF187042 - Homo sapiens protein tyrosine phosphatase receptor-type O truncated PTPROt mRNA, alternatively spliced, complete cds.
AF187043 - Homo sapiens protein tyrosine phosphatase receptor-type O truncated PTPROt mRNA, alternatively spliced, complete cds.
AF187044 - Homo sapiens protein tyrosine phosphatase receptor-type O truncated PTPROt mRNA, alternatively spliced, complete cds.
AK290982 - Homo sapiens cDNA FLJ75464 complete cds, highly similar to Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 6, mRNA.
AK299529 - Homo sapiens cDNA FLJ58276 complete cds, highly similar to Receptor-type tyrosine-protein phosphatase O precursor (EC 3.1.3.48).
AB209729 - Homo sapiens mRNA for receptor-type protein tyrosine phosphatase O isoform a precursor variant protein.
BC035960 - Homo sapiens protein tyrosine phosphatase, receptor type, O, mRNA (cDNA clone IMAGE:4610767), complete cds.
CU690232 - Synthetic construct Homo sapiens gateway clone IMAGE:100022322 5' read PTPRO mRNA.
KJ901686 - Synthetic construct Homo sapiens clone ccsbBroadEn_11080 PTPRO gene, encodes complete protein.
JD444948 - Sequence 425972 from Patent EP1572962.
JD399330 - Sequence 380354 from Patent EP1572962.
JD256682 - Sequence 237706 from Patent EP1572962.
JD373730 - Sequence 354754 from Patent EP1572962.
JD458560 - Sequence 439584 from Patent EP1572962.
JD042240 - Sequence 23264 from Patent EP1572962.
JD432849 - Sequence 413873 from Patent EP1572962.
JD413985 - Sequence 395009 from Patent EP1572962.
JD247966 - Sequence 228990 from Patent EP1572962.
JD167460 - Sequence 148484 from Patent EP1572962.
JD273265 - Sequence 254289 from Patent EP1572962.
JD220398 - Sequence 201422 from Patent EP1572962.
JD514729 - Sequence 495753 from Patent EP1572962.
JD143750 - Sequence 124774 from Patent EP1572962.
JD088794 - Sequence 69818 from Patent EP1572962.
JD299562 - Sequence 280586 from Patent EP1572962.
JD268096 - Sequence 249120 from Patent EP1572962.
JD508464 - Sequence 489488 from Patent EP1572962.
JD357450 - Sequence 338474 from Patent EP1572962.
JD286468 - Sequence 267492 from Patent EP1572962.
JD409750 - Sequence 390774 from Patent EP1572962.
JD061593 - Sequence 42617 from Patent EP1572962.
JD056328 - Sequence 37352 from Patent EP1572962.
JD436280 - Sequence 417304 from Patent EP1572962.
JD167023 - Sequence 148047 from Patent EP1572962.
JD095861 - Sequence 76885 from Patent EP1572962.
JD378604 - Sequence 359628 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A0AV39, ENST00000281171.1, ENST00000281171.2, ENST00000281171.3, ENST00000281171.4, ENST00000281171.5, ENST00000281171.6, ENST00000281171.7, ENST00000281171.8, GLEPP1, NM_030667, PTPRO_HUMAN, PTPU2, Q13101, Q16827, Q8IYG3, Q9UBF0, Q9UBT5, uc317jvw.1, uc317jvw.2
UCSC ID: ENST00000281171.9_7
RefSeq Accession: NM_030667.3
Protein: Q16827 (aka PTPRO_HUMAN or PTPO_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.