Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	5800
Gene name	Protein tyrosine phosphatase receptor type O
Gene symbol	PTPRO
Synonyms (NCBI Gene)	GLEPP1NPHS6PTP-OCPTP-U2PTPROTPTPU2R-PTP-O
Chromosome	12
Chromosome location	12p12.3\|12p13-p12
Summary	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1591750243	G>A	Pathogenic	Splice donor variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT000977	hsa-miR-17-5p	Luciferase reporter assayWestern blot	18644370
MIRT000977	hsa-miR-17-5p	Luciferase reporter assay	18644370
MIRT029550	hsa-miR-26b-5p	Microarray	19088304
MIRT000977	hsa-miR-17-5p	Luciferase reporter assay	27720936
MIRT732856	hsa-miR-6869-5p	Luciferase reporter assayqRT-PCRFlow cytometryELISA	34007244
MIRT1276365	hsa-miR-1343	CLIP-seq
MIRT1276366	hsa-miR-194	CLIP-seq
MIRT1276367	hsa-miR-2467-5p	CLIP-seq
MIRT1276368	hsa-miR-3115	CLIP-seq
MIRT1276369	hsa-miR-3159	CLIP-seq
MIRT1276370	hsa-miR-361-5p	CLIP-seq
MIRT1276371	hsa-miR-3667-3p	CLIP-seq
MIRT1276372	hsa-miR-3675-5p	CLIP-seq
MIRT1276373	hsa-miR-3690	CLIP-seq
MIRT1276374	hsa-miR-3908	CLIP-seq
MIRT1276375	hsa-miR-3919	CLIP-seq
MIRT1276376	hsa-miR-3925-5p	CLIP-seq
MIRT1276377	hsa-miR-3973	CLIP-seq
MIRT1276378	hsa-miR-4254	CLIP-seq
MIRT1276379	hsa-miR-4283	CLIP-seq
MIRT1276380	hsa-miR-4302	CLIP-seq
MIRT1276381	hsa-miR-4489	CLIP-seq
MIRT1276382	hsa-miR-4502	CLIP-seq
MIRT1276383	hsa-miR-4528	CLIP-seq
MIRT1276384	hsa-miR-4656	CLIP-seq
MIRT1276385	hsa-miR-4747-5p	CLIP-seq
MIRT1276386	hsa-miR-4773	CLIP-seq
MIRT1276387	hsa-miR-486-5p	CLIP-seq
MIRT1276388	hsa-miR-548a-5p	CLIP-seq
MIRT1276389	hsa-miR-548ab	CLIP-seq
MIRT1276390	hsa-miR-548ak	CLIP-seq
MIRT1276391	hsa-miR-548b-5p	CLIP-seq
MIRT1276392	hsa-miR-548c-5p	CLIP-seq
MIRT1276393	hsa-miR-548d-5p	CLIP-seq
MIRT1276394	hsa-miR-548h	CLIP-seq
MIRT1276395	hsa-miR-548i	CLIP-seq
MIRT1276396	hsa-miR-548j	CLIP-seq
MIRT1276397	hsa-miR-548w	CLIP-seq
MIRT1276398	hsa-miR-548y	CLIP-seq
MIRT1276399	hsa-miR-559	CLIP-seq
MIRT1276400	hsa-miR-642b	CLIP-seq
MIRT1276401	hsa-miR-665	CLIP-seq
MIRT1276402	hsa-miR-671-5p	CLIP-seq
MIRT1276403	hsa-miR-802	CLIP-seq
MIRT1276404	hsa-miR-873	CLIP-seq
MIRT1276405	hsa-miR-1323	CLIP-seq
MIRT1276406	hsa-miR-137	CLIP-seq
MIRT1276407	hsa-miR-15a	CLIP-seq
MIRT1276408	hsa-miR-15b	CLIP-seq
MIRT1276409	hsa-miR-16	CLIP-seq
MIRT1276410	hsa-miR-195	CLIP-seq
MIRT1276411	hsa-miR-25	CLIP-seq
MIRT1276412	hsa-miR-3122	CLIP-seq
MIRT1276413	hsa-miR-3124-3p	CLIP-seq
MIRT1276414	hsa-miR-3182	CLIP-seq
MIRT1276415	hsa-miR-3194-3p	CLIP-seq
MIRT1276416	hsa-miR-32	CLIP-seq
MIRT1276370	hsa-miR-361-5p	CLIP-seq
MIRT1276417	hsa-miR-363	CLIP-seq
MIRT1276418	hsa-miR-367	CLIP-seq
MIRT1276419	hsa-miR-3686	CLIP-seq
MIRT1276420	hsa-miR-3913-5p	CLIP-seq
MIRT1276421	hsa-miR-3921	CLIP-seq
MIRT1276377	hsa-miR-3973	CLIP-seq
MIRT1276422	hsa-miR-424	CLIP-seq
MIRT1276423	hsa-miR-4303	CLIP-seq
MIRT1276424	hsa-miR-4325	CLIP-seq
MIRT1276425	hsa-miR-4468	CLIP-seq
MIRT1276426	hsa-miR-4653-5p	CLIP-seq
MIRT1276427	hsa-miR-4742-3p	CLIP-seq
MIRT1276428	hsa-miR-4782-5p	CLIP-seq
MIRT1276429	hsa-miR-497	CLIP-seq
MIRT1276388	hsa-miR-548a-5p	CLIP-seq
MIRT1276389	hsa-miR-548ab	CLIP-seq
MIRT1276390	hsa-miR-548ak	CLIP-seq
MIRT1276391	hsa-miR-548b-5p	CLIP-seq
MIRT1276392	hsa-miR-548c-5p	CLIP-seq
MIRT1276393	hsa-miR-548d-5p	CLIP-seq
MIRT1276394	hsa-miR-548h	CLIP-seq
MIRT1276395	hsa-miR-548i	CLIP-seq
MIRT1276396	hsa-miR-548j	CLIP-seq
MIRT1276430	hsa-miR-548o	CLIP-seq
MIRT1276397	hsa-miR-548w	CLIP-seq
MIRT1276398	hsa-miR-548y	CLIP-seq
MIRT1276399	hsa-miR-559	CLIP-seq
MIRT1276400	hsa-miR-642b	CLIP-seq
MIRT1276404	hsa-miR-873	CLIP-seq
MIRT1276431	hsa-miR-92a	CLIP-seq
MIRT1276432	hsa-miR-92b	CLIP-seq
MIRT1276433	hsa-miR-944	CLIP-seq
MIRT2081303	hsa-miR-3117-5p	CLIP-seq
MIRT2081304	hsa-miR-514	CLIP-seq
MIRT2081305	hsa-miR-514b-3p	CLIP-seq
MIRT2439712	hsa-miR-208a	CLIP-seq
MIRT2439713	hsa-miR-208b	CLIP-seq
MIRT2439714	hsa-miR-3617	CLIP-seq
MIRT2439715	hsa-miR-499-5p	CLIP-seq
MIRT2439716	hsa-miR-641	CLIP-seq

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Transcription factor	Regulation	Reference
E2F1	Unknown	18644370

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IEA
GO:0000902	Process	Cell morphogenesis	ISS
GO:0002548	Process	Monocyte chemotaxis	IMP	19233845
GO:0003093	Process	Regulation of glomerular filtration	IBA
GO:0003093	Process	Regulation of glomerular filtration	IEA
GO:0003093	Process	Regulation of glomerular filtration	ISS
GO:0003105	Process	Negative regulation of glomerular filtration	IEA
GO:0003105	Process	Negative regulation of glomerular filtration	ISS
GO:0004721	Function	Phosphoprotein phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	IBA
GO:0004725	Function	Protein tyrosine phosphatase activity	IDA	19167335
GO:0004725	Function	Protein tyrosine phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	IMP	19233845
GO:0004725	Function	Protein tyrosine phosphatase activity	TAS	10498613
GO:0005001	Function	Transmembrane receptor protein tyrosine phosphatase activity	NAS	7665166
GO:0005515	Function	Protein binding	IPI	19167335, 28330616
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	NAS	7665166
GO:0007411	Process	Axon guidance	IBA
GO:0007411	Process	Axon guidance	IEA
GO:0007411	Process	Axon guidance	ISS
GO:0010812	Process	Negative regulation of cell-substrate adhesion	ISS
GO:0010977	Process	Negative regulation of neuron projection development	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	10498613
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0016328	Component	Lateral plasma membrane	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0016791	Function	Phosphatase activity	ISS
GO:0017147	Function	Wnt-protein binding	IBA
GO:0017147	Function	Wnt-protein binding	IEA
GO:0017147	Function	Wnt-protein binding	ISS
GO:0030027	Component	Lamellipodium	ISS
GO:0030032	Process	Lamellipodium assembly	IEA
GO:0030032	Process	Lamellipodium assembly	ISS
GO:0030424	Component	Axon	ISS
GO:0030426	Component	Growth cone	ISS
GO:0032835	Process	Glomerulus development	IEA
GO:0032835	Process	Glomerulus development	IMP	21722858
GO:0036060	Process	Slit diaphragm assembly	IEA
GO:0036060	Process	Slit diaphragm assembly	ISS
GO:0036060	Process	Slit diaphragm assembly	NAS	20633639
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043005	Component	Neuron projection	ISS
GO:0043197	Component	Dendritic spine	IEA
GO:0043197	Component	Dendritic spine	ISS
GO:0045296	Function	Cadherin binding	IBA
GO:0045296	Function	Cadherin binding	IPI	28926625
GO:0050807	Process	Regulation of synapse organization	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0072112	Process	Podocyte differentiation	IBA
GO:0072112	Process	Podocyte differentiation	IEA
GO:0072112	Process	Podocyte differentiation	ISS
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IBA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	ISS
GO:0090260	Process	Negative regulation of retinal ganglion cell axon guidance	ISS
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IBA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IBA
GO:0098982	Component	GABA-ergic synapse	IEA

MIM	HGNC	e!Ensembl
600579	9678	ENSG00000151490

Q16827

Protein name

Receptor-type tyrosine-protein phosphatase O (R-PTP-O) (EC 3.1.3.48) (Glomerular epithelial protein 1) (Protein tyrosine phosphatase U2) (PTP-U2) (PTPase U2)

Protein 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).

PDB

2G59 , 2GJT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00041	fn3	434 → 521	Fibronectin type III domain	Domain
PF00041	fn3	724 → 805	Fibronectin type III domain	Domain
PF00102	Y_phosphatase	962 → 1194	Protein-tyrosine phosphatase	Domain

Tissue specificity

TISSUE SPECIFICITY: Glomerulus of kidney. Also detected in brain, lung and placenta. {ECO:0000269|PubMed:10498613}.

Sequence

MGHLPTGIHGARRLLPLLWLFVLFKNATAFHVTVQDDNNIVVSLEASDVISPASVYVVKI
TGESKNYFFEFEEFNSTLPPPVIFKASYHGLYYIITLVVVNGNVVTKPSRSITVLTKPLP
VTSVSIYDYKPSPETGVLFEIHYPEKYNVFTRVNISYWEGKDFRTMLYKDFFKGKTVFNH
WLPGMCYSNITFQLVSEATFNKSTLVEYSGVSHEPKQHRTAPYPPQNISVRIVNLNKNNW
EEQSGNFPEESFMRSQDTIGKEKLFHFTEETPEIPSGNISSGWPDFNSSDYETTSQPYWW
DSASAAPESEDEFVSVLPMEYENNSTLSETEKSTSGSFSFFPVQMILTWLPPKPPTAFDG
FHIHIEREENFTEYLMVDEEAHEFVAELKEPGKYKLSVTTFSSSGSCETRKSQSAKSLSF
YISPSGEWIEELTEKPQHVSVHVLSSTTALMSWTSSQENYNSTIVSVVSLTCQKQKESQR
LEKQYCTQVNSSKPIIENLVPGAQYQVVIYLRKGPLIGPPSDPVTFAIVPTGIKDLMLYP
LGPTAVVLSWTRPYLGVFRKYVVEMFYFNPATMTSEWTTYYEIAATVSLTASVRIANLLP
AWYYNFRVTMVTWGDPELSCCDSSTISFITAPVAPEITSVEYFNSLLYISWTYGDDTTDL
SHSRMLHWMVVAEGKKKIKKSVTRNVMTAILSLPPGDIYNLSVTACTERGSNTSMLRLVK
LEPAPPKSLFAVNKTQTSVTLLWVEEGVADFFEVFCQQVGSSQKTKLQEPVAVSSHVVTI
SSLLPATAYNCSVTSFSHDSPSVPTFIAVSTMVTEMNPNVVVISVLAILSTLLIGLLLVT
LIILRKKHLQMARECGAGTFVNFASLERDGKLPYNWRRSIFAFLTLLPSCLWTDYLLAFY
INPWSKNGLKKRKLTNPVQLDDFDAYIKDMAKDSDYKFSLQFEELKLIGLDIPHFAADLP
LNRCKNRYTNILPYDFSRVRLVSMNEEEGADYINANYIPGYNSPQEYIATQGPLPETRND
FWKMVLQQKSQIIVMLTQCNEKRRVKCDHYWPFTEEPIAYGDITVEMISEEEQDDWACRH
FRINYADEMQDVMHFNYTAWPDHGVPTANAAESILQFVHMVRQQATKSKGPMIIHCSAGV
GRTGTFIALDRLLQHIRDHEFVDILGLVSEMRSYRMSMVQTEEQYIFIHQCVQLMWMKKK
QQFCISDVIYENVSKS

Sequence length

1216

Interactions

View interactions

125

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Nephrotic syndrome, type 6	Pathogenic	rs1591732280, rs1591750243	RCV000023015 RCV000023016

Show/Hide Unknown Diseases (22)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs11056534, rs148392717, rs76233597	RCV005924551 RCV005920836 RCV005920811
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs76233597	RCV005920814
Cervical cancer	Likely benign; Benign	rs148392717, rs76233597	RCV005920837 RCV005920815
Cholangiocarcinoma	Benign; Likely benign	rs76233597	RCV005920821
Clear cell carcinoma of kidney	Benign; Likely benign	rs76233597	RCV005920816
Colon adenocarcinoma	Benign; Likely benign	rs76233597	RCV005920810
Colorectal cancer	Benign; Likely benign	rs76233597	RCV005920817
Corticosteroids response	drug response; Benign; Conflicting classifications of pathogenicity	rs2135644233, rs4764199, rs528784695	RCV002271961 RCV001261437 RCV001261438
Familial cancer of breast	Likely benign	rs148392717	RCV005920835
Gastric cancer	Benign; Likely benign	rs76233597	RCV005920819
Hepatocellular carcinoma	Benign	rs2300289	RCV005918277
Lung cancer	Likely benign	rs148392717	RCV005920841
Malignant lymphoma, large B-cell, diffuse	Benign	rs2300289	RCV005918278
Malignant tumor of esophagus	Benign; Likely benign	rs76233597	RCV005920812
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs76233597	RCV005920813
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs11056534, rs148392717	RCV005924552 RCV005920839
PTPRO-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs61741744, rs144347297, rs139015332, rs757572769, rs137956150, rs756776270, rs369720581, rs755074605, rs142585226, rs142711597, rs113605455, rs149809140, rs140390981, rs143278258, rs780502857 View all (16 more)	RCV003903348 RCV003968849 RCV003958807 RCV003916739 RCV003906476 RCV003943798 RCV003946290 RCV003916611 RCV003943578 RCV003963556 RCV003391351 RCV003929240 RCV003894532 RCV003921612 RCV003921676 RCV003982661 RCV003901494 RCV003901971 RCV003899408 RCV003899589 RCV003952050 RCV003959699 RCV003951507 RCV003947072 RCV003954554 RCV003981812 RCV003972238 RCV003948020 RCV003918439 RCV003975506 RCV003923186 RCV003943071
Sarcoma	Likely benign; Benign	rs148392717, rs76233597	RCV005920838 RCV005920818
Thymoma	Likely benign	rs148392717	RCV005920840
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs76233597	RCV005920820
Uterine carcinosarcoma	Benign	rs2300289	RCV005918279
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs148392717, rs76233597	RCV005920842 RCV005920822

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Inhibit	36816740, 38182570
Breast Neoplasms	Associate	19095770, 22851698, 24090193, 24919593, 36003382
Carcinogenesis	Associate	25034527
Carcinoma Hepatocellular	Inhibit	15356345
Carcinoma Hepatocellular	Associate	25034527
Colorectal Neoplasms	Associate	25301722, 31827380
Diabetes Gestational	Associate	34007244
Diabetic Nephropathies	Associate	29207157, 34557161
Diabetic Nephropathies	Inhibit	37916327
Emphysema	Associate	28199135
Esophageal Squamous Cell Carcinoma	Associate	22099875
Glomerulonephritis IGA	Inhibit	17593862
Hereditary Breast and Ovarian Cancer Syndrome	Associate	24919593
Inflammation	Associate	31827380
Leukemia	Inhibit	19095770
Leukemia	Associate	20564182
Leukemia Lymphocytic Chronic B Cell	Inhibit	17545520, 20564182
Lung Neoplasms	Inhibit	15356345, 19095770
Lung Neoplasms	Associate	17545520
Lupus Erythematosus Systemic	Stimulate	31616406
Lymphoma Large B Cell Diffuse	Inhibit	10498613
Lymphoma Large B Cell Diffuse	Associate	19855081, 27720936
Neoplasm Metastasis	Inhibit	38182570
Neoplasms	Inhibit	15356345, 18644370, 19095770, 22099875, 22851698, 24919593, 25034527, 31827380, 34462486, 36816740, 38182570
Neoplasms	Associate	24090193, 36003382
Nephrosis congenital	Associate	21722858
Nephrotic Syndrome	Associate	21722858
Obesity	Associate	39275286
Proteinuria	Inhibit	17593862
Pulmonary Disease Chronic Obstructive	Associate	28199135
Tertiary Lymphoid Structures	Associate	24919593

PTPRO (protein tyrosine phosphatase receptor type O)