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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10076
Gene name	Protein tyrosine phosphatase receptor type U
Gene symbol	PTPRU
Synonyms (NCBI Gene)	FMIPCP-2PTPPTP-JPTP-PIPTP-ROPTPPSIPTPROPTPU2R-PTP-PSIR-PTP-UhPTP-J
Chromosome	1
Chromosome location	1p35.3
Summary	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 tran

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs540351799	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs559788899	C>T	Likely-pathogenic	Coding sequence variant, missense variant

102

Show/Hide all (102)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019113	hsa-miR-335-5p	Microarray	18185580
MIRT040396	hsa-miR-615-3p	CLASH	23622248
MIRT1276554	hsa-miR-139-5p	CLIP-seq
MIRT1276555	hsa-miR-199a-3p	CLIP-seq
MIRT1276556	hsa-miR-199b-3p	CLIP-seq
MIRT1276557	hsa-miR-3127-5p	CLIP-seq
MIRT1276558	hsa-miR-3129-5p	CLIP-seq
MIRT1276559	hsa-miR-4270	CLIP-seq
MIRT1276560	hsa-miR-4441	CLIP-seq
MIRT1276561	hsa-miR-582-5p	CLIP-seq
MIRT1276562	hsa-miR-936	CLIP-seq
MIRT1276563	hsa-let-7a	CLIP-seq
MIRT1276564	hsa-let-7b	CLIP-seq
MIRT1276565	hsa-let-7c	CLIP-seq
MIRT1276566	hsa-let-7d	CLIP-seq
MIRT1276567	hsa-let-7e	CLIP-seq
MIRT1276568	hsa-let-7f	CLIP-seq
MIRT1276569	hsa-let-7g	CLIP-seq
MIRT1276570	hsa-let-7i	CLIP-seq
MIRT1276571	hsa-miR-1304	CLIP-seq
MIRT1276554	hsa-miR-139-5p	CLIP-seq
MIRT1276555	hsa-miR-199a-3p	CLIP-seq
MIRT1276556	hsa-miR-199b-3p	CLIP-seq
MIRT1276572	hsa-miR-21	CLIP-seq
MIRT1276573	hsa-miR-2110	CLIP-seq
MIRT1276558	hsa-miR-3129-5p	CLIP-seq
MIRT1276574	hsa-miR-3691-3p	CLIP-seq
MIRT1276575	hsa-miR-3943	CLIP-seq
MIRT1276576	hsa-miR-4271	CLIP-seq
MIRT1276577	hsa-miR-4286	CLIP-seq
MIRT1276578	hsa-miR-4313	CLIP-seq
MIRT1276579	hsa-miR-4458	CLIP-seq
MIRT1276580	hsa-miR-4480	CLIP-seq
MIRT1276581	hsa-miR-4500	CLIP-seq
MIRT1276582	hsa-miR-4633-5p	CLIP-seq
MIRT1276583	hsa-miR-4699-3p	CLIP-seq
MIRT1276584	hsa-miR-4712-5p	CLIP-seq
MIRT1276585	hsa-miR-4725-3p	CLIP-seq
MIRT1276586	hsa-miR-518a-3p	CLIP-seq
MIRT1276587	hsa-miR-518b	CLIP-seq
MIRT1276588	hsa-miR-518c	CLIP-seq
MIRT1276589	hsa-miR-518d-3p	CLIP-seq
MIRT1276590	hsa-miR-518e	CLIP-seq
MIRT1276591	hsa-miR-518f	CLIP-seq
MIRT1276592	hsa-miR-520d-5p	CLIP-seq
MIRT1276593	hsa-miR-524-5p	CLIP-seq
MIRT1276594	hsa-miR-532-5p	CLIP-seq
MIRT1276561	hsa-miR-582-5p	CLIP-seq
MIRT1276595	hsa-miR-590-5p	CLIP-seq
MIRT1276596	hsa-miR-770-5p	CLIP-seq
MIRT1276562	hsa-miR-936	CLIP-seq
MIRT1276597	hsa-miR-98	CLIP-seq
MIRT2081316	hsa-miR-141	CLIP-seq
MIRT2081317	hsa-miR-200a	CLIP-seq
MIRT2081318	hsa-miR-3150a-3p	CLIP-seq
MIRT2081319	hsa-miR-3174	CLIP-seq
MIRT2081320	hsa-miR-3175	CLIP-seq
MIRT2081321	hsa-miR-3189-5p	CLIP-seq
MIRT1276575	hsa-miR-3943	CLIP-seq
MIRT1276577	hsa-miR-4286	CLIP-seq
MIRT2081322	hsa-miR-4728-5p	CLIP-seq
MIRT2081323	hsa-miR-486-3p	CLIP-seq
MIRT2081324	hsa-miR-491-5p	CLIP-seq
MIRT2081325	hsa-miR-548p	CLIP-seq
MIRT2081326	hsa-miR-921	CLIP-seq
MIRT2081327	hsa-miR-939	CLIP-seq
MIRT2081328	hsa-miR-940	CLIP-seq
MIRT2439717	hsa-miR-4514	CLIP-seq
MIRT2439718	hsa-miR-4692	CLIP-seq
MIRT2081328	hsa-miR-940	CLIP-seq
MIRT2081316	hsa-miR-141	CLIP-seq
MIRT2604900	hsa-miR-1913	CLIP-seq
MIRT2081317	hsa-miR-200a	CLIP-seq
MIRT2604901	hsa-miR-324-3p	CLIP-seq
MIRT1276577	hsa-miR-4286	CLIP-seq
MIRT2604902	hsa-miR-4293	CLIP-seq
MIRT2604903	hsa-miR-4749-3p	CLIP-seq
MIRT2081316	hsa-miR-141	CLIP-seq
MIRT2604900	hsa-miR-1913	CLIP-seq
MIRT2689140	hsa-miR-1915	CLIP-seq
MIRT2081317	hsa-miR-200a	CLIP-seq
MIRT2689141	hsa-miR-2115	CLIP-seq
MIRT2689142	hsa-miR-2355-5p	CLIP-seq
MIRT1276557	hsa-miR-3127-5p	CLIP-seq
MIRT2604901	hsa-miR-324-3p	CLIP-seq
MIRT1276574	hsa-miR-3691-3p	CLIP-seq
MIRT1276577	hsa-miR-4286	CLIP-seq
MIRT2604902	hsa-miR-4293	CLIP-seq
MIRT1276580	hsa-miR-4480	CLIP-seq
MIRT2689143	hsa-miR-4492	CLIP-seq
MIRT2689144	hsa-miR-4498	CLIP-seq
MIRT2689145	hsa-miR-4505	CLIP-seq
MIRT2689146	hsa-miR-4640-5p	CLIP-seq
MIRT1276584	hsa-miR-4712-5p	CLIP-seq
MIRT2689147	hsa-miR-4726-5p	CLIP-seq
MIRT2604903	hsa-miR-4749-3p	CLIP-seq
MIRT2689148	hsa-miR-4786-5p	CLIP-seq
MIRT2689149	hsa-miR-516a-3p	CLIP-seq
MIRT2689150	hsa-miR-665	CLIP-seq
MIRT2689151	hsa-miR-762	CLIP-seq
MIRT2689152	hsa-miR-769-5p	CLIP-seq
MIRT1276596	hsa-miR-770-5p	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004721	Function	Phosphoprotein phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	IBA
GO:0004725	Function	Protein tyrosine phosphatase activity	IDA	12501215
GO:0004725	Function	Protein tyrosine phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	IMP	16574648
GO:0005001	Function	Transmembrane receptor protein tyrosine phosphatase activity	NAS	8700514
GO:0005515	Function	Protein binding	IPI	10397721, 17622474
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	8700514
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IDA	12501215
GO:0005911	Component	Cell-cell junction	IEA
GO:0006470	Process	Protein dephosphorylation	IDA	12501215
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	NAS	8700514
GO:0007165	Process	Signal transduction	IBA
GO:0007185	Process	Cell surface receptor protein tyrosine phosphatase signaling pathway	NAS	8700514
GO:0008013	Function	Beta-catenin binding	IEA
GO:0008013	Function	Beta-catenin binding	IPI	16574648
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	16574648
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030336	Process	Negative regulation of cell migration	IDA	12501215, 16574648
GO:0030336	Process	Negative regulation of cell migration	IEA
GO:0031100	Process	Animal organ regeneration	IEA
GO:0031175	Process	Neuron projection development	IBA
GO:0034109	Process	Homotypic cell-cell adhesion	IEA
GO:0034394	Process	Protein localization to cell surface	IDA	16574648
GO:0034394	Process	Protein localization to cell surface	IEA
GO:0051384	Process	Response to glucocorticoid	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	16574648
GO:2000049	Process	Positive regulation of cell-cell adhesion mediated by cadherin	IDA	16574648

MIM	HGNC	e!Ensembl
602454	9683	ENSG00000060656

Q92729

Protein name

Receptor-type tyrosine-protein phosphatase U (R-PTP-U) (EC 3.1.3.48) (Pancreatic carcinoma phosphatase 2) (PCP-2) (Protein-tyrosine phosphatase J) (PTP-J) (hPTP-J) (Protein-tyrosine phosphatase pi) (PTP pi) (Protein-tyrosine phosphatase receptor omicron)

Protein function

Tyrosine-protein phosphatase which dephosphorylates CTNNB1. Regulates CTNNB1 function both in cell adhesion and signaling. May function in cell proliferation and migration and play a role in the maintenance of epithelial integrity. May play a ro

PDB

6SUB , 6SUC

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00629	MAM	27 → 187	MAM domain, meprin/A5/mu	Domain
PF00041	fn3	287 → 370	Fibronectin type III domain	Domain
PF00041	fn3	490 → 579	Fibronectin type III domain	Domain
PF00102	Y_phosphatase	913 → 1143	Protein-tyrosine phosphatase	Domain
PF00102	Y_phosphatase	1203 → 1438	Protein-tyrosine phosphatase	Domain

Tissue specificity

TISSUE SPECIFICITY: High levels in brain, pancreas, and skeletal muscle; less in colon, kidney, liver, stomach, and uterus; not expressed in placenta and spleen. Also detected in heart, prostate, lung, thymus, testis and ovary. Ubiquitously expressed in b

Sequence

MARAQALVLALTFQLCAPETETPAAGCTFEEASDPAVPCEYSQAQYDDFQWEQVRIHPGT
RAPADLPHGSYLMVNTSQHAPGQRAHVIFQSLSENDTHCVQFSYFLYSRDGHSPGTLGVY
VRVNGGPLGSAVWNMTGSHGRQWHQAELAVSTFWPNEYQVLFEALISPDRRGYMGLDDIL
LLSYPCAKAPHFSRLGDVEVNAGQNASFQCMAAGRAAEAERFLLQRQSGALVPAAGVRHI
SHRRFLATFPLAAVSRAEQDLYRCVSQAPRGAGVSNFAELIVKEPPTPIAPPQLLRAGPT
YLIIQLNTNSIIGDGPIVRKEIEYRMARGPWAEVHAVSLQTYKLWHLDPDTEYEISVLLT
RPGDGGTGRPGPPLISRTKCAEPMRAPKGLAFAEIQARQLTLQWEPLGYNVTRCHTYTVS
LCYHYTLGSSHNQTIRECVKTEQGVSRYTIKNLLPYRNVHVRLVLTNPEGRKEGKEVTFQ
TDEDVPSGIAAESLTFTPLEDMIFLKWEEPQEPNGLITQYEISYQSIESSDPAVNVPGPR
RTISKLRNETYHVFSNLHPGTTYLFSVRARTGKGFGQAALTEITTNISAPSFDYADMPSP
LGESENTITVLLRPAQGRGAPISVYQVIVEEERARRLRREPGGQDCFPVPLTFEAALARG
LVHYFGAELAASSLPEAMPFTVGDNQTYRGFWNPPLEPRKAYLIYFQAASHLKGETRLNC
IRIARKAACKESKRPLEVSQRSEEMGLILGICAGGLAVLILLLGAIIVIIRKGRDHYAYS
YYPKPVNMTKATVNYRQEKTHMMSAVDRSFTDQSTLQEDERLGLSFMDTHGYSTRGDQRS
GGVTEASSLLGGSPRRPCGRKGSPYHTGQLHPAVRVADLLQHINQMKTAEGYGFKQEYES
FFEGWDATKKKDKVKGSRQEPMPAYDRHRVKLHPMLGDPNADYINANYIDGYHRSNHFIA
TQGPKPEMVYDFWRMVWQEHCSSIVMITKLVEVGRVKCSRYWPEDSDTYGDIKIMLVKTE
TLAEYVVRTFALERRGYSARHEVRQFHFTAWPEHGVPYHATGLLAFIRRVKASTPPDAGP
IVIHCSAGTGRTGCYIVLDVMLDMAECEGVVDIYNCVKTLCSRRVNMIQTEEQYIFIHDA
ILEACLCGETTIPVSEFKATYKEMIRIDPQSNSSQLREEFQTLNSVTPPLDVEECSIALL
PRNRDKNRSMDVLPPDRCLPFLISTDGDSNNYINAALTDSYTRSAAFIVTLHPLQSTTPD
FWRLVYDYGCTSIVMLNQLNQSNSAWPCLQYWPEPGRQQYGLMEVEFMSGTADEDLVARV
FRVQNISRLQEGHLLVRHFQFLRWSAYRDTPDSKKAFLHLLAEVDKWQAESGDGRTIVHC
LNGGGRSGTFCACATVLEMIRCHNLVDVFFAAKTLRNYKPNMVETMDQYHFCYDVALEYL
EGLESR

Sequence length

1446

Interactions

View interactions

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			Signaling by SCF-KIT

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Short stature	Likely pathogenic	rs559788899, rs540351799	RCV000736221 RCV000736222

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Hepatocellular carcinoma	Uncertain significance	rs537523993	RCV005932177
PTPRU-related disorder	Uncertain significance; Likely benign; Benign	rs149813959, rs141378439, rs139467328, rs72649292, rs1685945377, rs35932909, rs201241001, rs200865092, rs1242145206, rs150485708, rs139267044, rs151313946, rs61729921, rs139236311, rs150111261 View all (10 more)	RCV003429055 RCV003966339 RCV003966340 RCV003909289 RCV003921919 RCV003929625 RCV003929764 RCV003929804 RCV003912030 RCV003909699 RCV003911875 RCV003919407 RCV003914662 RCV003943839 RCV003959310 RCV003914557 RCV003951461 RCV003958965 RCV003969329 RCV003969341 RCV003926930 RCV003934292 RCV003949174 RCV003944316 RCV003969755

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Astrocytoma	Associate	27586084
Autoimmune Diseases	Associate	27977138
Breast Neoplasms	Associate	12475979, 39684488, 9115287
Carcinoma Basal Cell	Associate	36309102
Carcinoma Hepatocellular	Associate	29742497
Carcinoma Non Small Cell Lung	Associate	27761023
Colorectal Neoplasms	Associate	19000305
Colorectal Neoplasms	Inhibit	25337216
Communicable Diseases	Associate	27977138
Diabetes Mellitus	Associate	27977138
Glioblastoma	Associate	27586084, 30348936
Glioma	Associate	27586084
Leukemia	Associate	9694875
Leukemia Myeloid Acute	Associate	28176486
Lymphoma	Associate	10395944
Melanoma	Associate	11710941
Myopathies Structural Congenital	Associate	30884204
Neoplasm Metastasis	Associate	27761023
Neoplasms	Associate	19000305, 25062045, 27977138, 33441685
Neoplasms	Inhibit	25337216
Obesity	Associate	27977138
Polycythemia Vera	Associate	12920026
Stomach Neoplasms	Associate	25337216
Tuberculosis	Associate	27977138

PTPRU (protein tyrosine phosphatase receptor type U)