PTPRU (protein tyrosine phosphatase receptor type U)

Gene

• Entrez ID: 10076
• Gene name: Protein tyrosine phosphatase receptor type U
• Gene symbol: PTPRU
• Synonyms (NCBI Gene): FMI, PCP-2, PTP, PTP-J, PTP-PI, PTP-RO, PTPPSI, PTPRO, PTPU2, R-PTP-PSI, R-PTP-U, hPTP-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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004725	Function	Protein tyrosine phosphatase activity	IBA	21873635
GO:0004725	Function	Protein tyrosine phosphatase activity	IDA	12501215
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	TAS
GO:0005887	Component	Integral component of plasma membrane	NAS	8700514
GO:0005911	Component	Cell-cell junction	IDA	12501215
GO:0006470	Process	Protein dephosphorylation	IBA	21873635
GO:0006470	Process	Protein dephosphorylation	IDA	12501215
GO:0007155	Process	Cell adhesion	NAS	8700514
GO:0007185	Process	Transmembrane receptor protein tyrosine phosphatase signaling pathway	NAS	8700514
GO:0008013	Function	Beta-catenin binding	IPI	16574648
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	16574648
GO:0030154	Process	Cell differentiation	IEA
GO:0030336	Process	Negative regulation of cell migration	IDA	12501215, 16574648
GO:0031100	Process	Animal organ regeneration	IEA
GO:0034109	Process	Homotypic cell-cell adhesion	IEA
GO:0034394	Process	Protein localization to cell surface	IDA	16574648
GO:0035335	Process	Peptidyl-tyrosine dephosphorylation	IEA
GO:0051384	Process	Response to glucocorticoid	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

Other IDs

• MIM: 602454
• HGNC: 9683
• e!Ensembl: ENSG00000060656

Protein

• UniProt ID: 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

Pathways

Reactome:

Signaling by SCF-KIT

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208

Unknown
Disease term	Disease name	Evidence	References	Source
Tourette Syndrome	Tourette Syndrome			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
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