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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	374462
Gene name	Protein tyrosine phosphatase receptor type Q
Gene symbol	PTPRQ
Synonyms (NCBI Gene)	DFNA73DFNB84DFNB84APTPGMC1R-PTP-Q
Chromosome	12
Chromosome location	12q21.31
Summary	This locus encodes a member of the type III receptor-like protein-tyrosine phosphatase family. The encoded protein catalyzes the dephosphorylation of phosphotyrosine and phosphatidylinositol and plays roles in cellular proliferation and differentiation. M

Show/Hide all (37)

miRTarBase ID	miRNA	Experiments
MIRT1276434	hsa-miR-203	CLIP-seq
MIRT1276435	hsa-miR-3153	CLIP-seq
MIRT1276436	hsa-miR-3189-3p	CLIP-seq
MIRT1276437	hsa-miR-323b-3p	CLIP-seq
MIRT1276438	hsa-miR-328	CLIP-seq
MIRT1276439	hsa-miR-331-3p	CLIP-seq
MIRT1276440	hsa-miR-3646	CLIP-seq
MIRT1276441	hsa-miR-3647-3p	CLIP-seq
MIRT1276442	hsa-miR-376c	CLIP-seq
MIRT1276443	hsa-miR-4292	CLIP-seq
MIRT1276444	hsa-miR-4464	CLIP-seq
MIRT1276445	hsa-miR-4668-5p	CLIP-seq
MIRT1276446	hsa-miR-4714-3p	CLIP-seq
MIRT1276447	hsa-miR-4748	CLIP-seq
MIRT1276448	hsa-miR-4790-3p	CLIP-seq
MIRT2307271	hsa-miR-128	CLIP-seq
MIRT2307272	hsa-miR-140-3p	CLIP-seq
MIRT2442533	hsa-miR-1206	CLIP-seq
MIRT2442534	hsa-miR-1323	CLIP-seq
MIRT2442535	hsa-miR-380	CLIP-seq
MIRT2442536	hsa-miR-4760-3p	CLIP-seq
MIRT2442537	hsa-miR-548o	CLIP-seq
MIRT2457474	hsa-miR-155	CLIP-seq
MIRT2457475	hsa-miR-23a	CLIP-seq
MIRT2457476	hsa-miR-23b	CLIP-seq
MIRT2457477	hsa-miR-23c	CLIP-seq
MIRT2457478	hsa-miR-494	CLIP-seq
MIRT2457474	hsa-miR-155	CLIP-seq
MIRT2457475	hsa-miR-23a	CLIP-seq
MIRT2457476	hsa-miR-23b	CLIP-seq
MIRT2457477	hsa-miR-23c	CLIP-seq
MIRT2457478	hsa-miR-494	CLIP-seq
MIRT2457474	hsa-miR-155	CLIP-seq
MIRT2457475	hsa-miR-23a	CLIP-seq
MIRT2457476	hsa-miR-23b	CLIP-seq
MIRT2457477	hsa-miR-23c	CLIP-seq
MIRT2457478	hsa-miR-494	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004721	Function	Phosphoprotein phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0009925	Component	Basal plasma membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0016314	Function	Phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0032420	Component	Stereocilium	IEA
GO:0034485	Function	Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	IEA
GO:0036092	Process	Phosphatidylinositol-3-phosphate biosynthetic process	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043235	Component	Receptor complex	IBA
GO:0043813	Function	Phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity	IEA
GO:0045598	Process	Regulation of fat cell differentiation	IDA	19351528
GO:0050910	Process	Detection of mechanical stimulus involved in sensory perception of sound	IBA
GO:0052629	Function	Phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IEA
GO:0120044	Component	Stereocilium base	ISS

MIM	HGNC	e!Ensembl
603317	9679	ENSG00000139304

Q9UMZ3

Protein name

Phosphatidylinositol phosphatase PTPRQ (EC 3.1.3.67) (EC 3.1.3.86) (EC 3.1.3.95) (Receptor-type tyrosine-protein phosphatase Q) (PTP-RQ) (R-PTP-Q)

Protein function

Dephosphorylates phosphatidylinositol phosphates, such as phosphatidylinositol 3,4,5-trisphosphate (PIP3) and phosphatidylinositol 3,5-diphosphates, with preference for PIP3 (PubMed:23897475). Phosphate can be hydrolyzed from the D3 and D5 posit

PDB

4IKC

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00041	fn3	9 → 88	Fibronectin type III domain	Domain
PF00041	fn3	99 → 185	Fibronectin type III domain	Domain
PF00041	fn3	612 → 693	Fibronectin type III domain	Domain
PF00041	fn3	709 → 787	Fibronectin type III domain	Domain
PF00041	fn3	803 → 884	Fibronectin type III domain	Domain
PF00041	fn3	898 → 977	Fibronectin type III domain	Domain
PF00041	fn3	992 → 1082	Fibronectin type III domain	Domain
PF00041	fn3	1195 → 1273	Fibronectin type III domain	Domain
PF00041	fn3	1286 → 1370	Fibronectin type III domain	Domain
PF00041	fn3	1383 → 1460	Fibronectin type III domain	Domain
PF00041	fn3	1473 → 1568	Fibronectin type III domain	Domain
PF00041	fn3	1582 → 1663	Fibronectin type III domain	Domain
PF00041	fn3	1685 → 1775	Fibronectin type III domain	Domain
PF18861	PTP_tm	1819 → 1973	Transmembrane domain of protein tyrosine phosphatase, receptor type J	Family
PF00102	Y_phosphatase	2060 → 2291	Protein-tyrosine phosphatase	Domain

Tissue specificity

TISSUE SPECIFICITY: In developing kidney, it localizes to the basal membrane of podocytes, beginning when podocyte progenitors can first be identified in the embryonic kidney (at protein level). Expressed in lung and kidney. {ECO:0000269|PubMed:12837292,

Sequence

MKKVPIKPEQPEKLRAFNISTHSFSLHWSLPSGHVERYQVDLVPDSGFVTIRDLGGGEYQ
VDVSNVVPGTRYDITISSISTTYTSPVTRIVTTNVTKPGPPVFLAGERVGSAGILLSWNT
PPNPNGRIISYIVKYKEVCPWMQTVYTQVRSKPDSLEVLLTNLNPGTTYEIKVAAENSAG
IGVFSDPFLFQTAESAPGKVVNLTVEAYNASAVKLIWYLPRQPNGKITSFKISVKHARSG
IVVKDVSIRVEDILTGKLPECNENSESFLWSTASPSPTLGRVTPPSRTTHSSSTLTQNEI
SSVWKEPISFVVTHLRPYTTYLFEVSAVTTEAGYIDSTIVRTPESVPEGPPQNCVTGNIT
GKSFSILWDPPTIVTGKFSYRVELYGPSGRILDNSTKDLKFAFTNLTPFTMYDVYIAAET
SAGTGPKSNISVFTPPDVPGAVFDLQLAEVESTQVRITWKKPRQPNGIINQYRVKVLVPE
TGIILENTLLTGNNEYINDPMAPEIVNIVEPMVGLYEGSAEMSSDLHSLATFIYNSHPDK
NFPARNRAEDQTSPVVTTRNQYITDIAAEQLSYVIRRLVPFTEHMISVSAFTIMGEGPPT
VLSVRTRQQVPSSIKIINYKNISSSSILLYWDPPEYPNGKITHYTIYAMELDTNRAFQIT
TIDNSFLITGLKKYTKYKMRVAASTHVGESSLSEENDIFVRTSEDEPESSPQDVEVIDVT
ADEIRLKWSPPEKPNGIIIAYEVLYKNIDTLYMKNTSTTDIILRNLRPHTLYNISVRSYT
RFGHGNQVSSLLSVRTSETVPDSAPENITYKNISSGEIELSFLPPSSPNGIIKKYTIYLK
RSNGNEERTINTTSLTQNIKVLKKYTQYIIEVSASTLKGEGVRSAPISILTEEDAPDSPP
QDFSVKQLSGVTVKLSWQPPLEPNGIILYYTVYVWNRSSLKTINVTETSLELSDLDYNVE
YSAYVTASTRFGDGKTRSNIISFQTPEGAPSDPPKDVYYANLSSSSIILFWTPPSKPNGI
IQYYSVYYRNTSGTFMQNFTLHEVTNDFDNMTVSTIIDKLTIFSYYTFWLTASTSVGNGN
KSSDIIEVYTDQDIPEGFVGNLTYESISSTAINVSWVPPAQPNGLVFYYVSLILQQTPRH
VRPPLVTYERSIYFDNLEKYTDYILKITPSTEKGFSDTYTAQLYIKTEEDVPETSPIINT
FKNLSSTSVLLSWDPPVKPNGAIISYDLTLQGPNENYSFITSDNYIILEELSPFTLYSFF
AAARTRKGLGPSSILFFYTDESVPLAPPQNLTLINCTSDFVWLKWSPSPLPGGIVKVYSF
KIHEHETDTIYYKNISGFKTEAKLVGLEPVSTYSIRVSAFTKVGNGNQFSNVVKFTTQES
VPDVVQNMQCMATSWQSVLVKWDPPKKANGIITQYMVTVERNSTKVSPQDHMYTFIKLLA
NTSYVFKVRASTSAGEGDESTCHVSTLPETVPSVPTNIAFSDVQSTSATLTWIRPDTILG
YFQNYKITTQLRAQKCKEWESEECVEYQKIQYLYEAHLTEETVYGLKKFRWYRFQVAAST
NAGYGNASNWISTKTLPGPPDGPPENVHVVATSPFSISISWSEPAVITGPTCYLIDVKSV
DNDEFNISFIKSNEENKTIEIKDLEIFTRYSVVITAFTGNISAAYVEGKSSAEMIVTTLE
SAPKDPPNNMTFQKIPDEVTKFQLTFLPPSQPNGNIQVYQALVYREDDPTAVQIHNLSII
QKTNTFVIAMLEGLKGGHTYNISVYAVNSAGAGPKVPMRITMDIKAPARPKTKPTPIYDA
TGKLLVTSTTITIRMPICYYSDDHGPIKNVQVLVTETGAQHDGNVTKWYDAYFNKARPYF
TNEGFPNPPCTEGKTKFSGNEEIYIIGADNACMIPGNEDKICNGPLKPKKQYLFKFRATN
IMGQFTDSDYSDPVKTLGEGLSERTVEIILSVTLCILSIILLGTAIFAFARIRQKQKEGG
TYSPQDAEIIDTKLKLDQLITVADLELKDERLTRPISKKSFLQHVEELCTNNNLKFQEEF
SELPKFLQDLSSTDADLPWNRAKNRFPNIKPYNNNRVKLIADASVPGSDYINASYISGYL
CPNEFIATQGPLPGTVGDFWRMVWETRAKTLVMLTQCFEKGRIRCHQYWPEDNKPVTVFG
DIVITKLMEDVQIDWTIRDLKIERHGDCMTVRQCNFTAWPEHGVPENSAPLIHFVKLVRA
SRAHDTTPMIVHCSAGVGRTGVFIALDHLTQHINDHDFVDIYGLVAELRSERMCMVQNLA
QYIFLHQCILDLLSNKGSNQPICFVNYSALQKMDSLDAMEGDVELEWEETTM

Sequence length

2332

Interactions

View interactions

130

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive nonsyndromic hearing loss 84A	Likely pathogenic; Pathogenic	rs948217913, rs2121280782, rs1894570068, rs281865414, rs183258549, rs1005570619, rs2541594859, rs1310828595, rs2541600597, rs1896318374	RCV003333615 RCV001822875 RCV004785290 RCV000144416 RCV000144417 RCV002444377 RCV002444378 RCV003129593 RCV003226706 RCV001250122
Deafness	Likely pathogenic; Pathogenic	rs1565819402, rs1565855932	RCV000679835 RCV000679834
Ear malformation	Likely pathogenic	rs2121304960, rs1592779077	RCV001814555 RCV001836908
Hearing loss, autosomal dominant 73	Pathogenic; Likely pathogenic	rs2121223982, rs916582229	RCV001542772 RCV001262191
Hearing loss, autosomal recessive	Likely pathogenic; Pathogenic	rs1565819402, rs1565855932	RCV001291238 RCV001291239
Monogenic hearing loss	Pathogenic	rs1896318374	RCV006266666
PTPRQ-related disorder	Likely pathogenic; Pathogenic	rs1450763362, rs1283638306, rs377572771	RCV003400152 RCV003897005 RCV004754548

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Hearing impairment	Uncertain significance; Benign; Likely benign	rs1245108213, rs2120546591, rs974503422, rs2121305975, rs368946018	RCV001375334 RCV001375242 RCV001375082 RCV001375456 RCV001375077
Hepatocellular carcinoma	Benign	rs57971665	RCV005899915
Malignant lymphoma, large B-cell, diffuse	Benign	rs4341604, rs56105723	RCV005916563 RCV005861180
Malignant tumor of esophagus	Benign	rs57971665	RCV005899916
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	rs4341604, rs74961900, rs10506831, rs1163297, rs201859718	RCV005916564 RCV005924840 RCV005921956 RCV005922242 RCV005931063
See cases	Conflicting classifications of pathogenicity	rs1894506287	RCV002252651
Sensorineural hearing loss disorder	Uncertain significance	rs1238341806	RCV001353200
Uterine carcinosarcoma	Benign	rs57971665	RCV005899917

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	37350390
Carcinoma Hepatocellular	Associate	36153509
Deafness	Associate	25788564, 25919374, 37106574
Hearing Loss	Stimulate	19888295
Hearing Loss	Associate	20346435, 25788564, 25919374, 29309402, 29849575, 33478437, 33997018, 37106574, 40165225
Hearing Loss Sensorineural	Associate	25788564, 25919374, 29849575, 37106574
Heart Diseases	Associate	33035386
Hydrocephalus	Associate	33035386
Hydrocephalus Normal Pressure	Stimulate	33035386
Nonsyndromic Deafness	Associate	33478437
Nonsyndromic sensorineural hearing loss	Associate	20346435, 29849575, 31655630
Optic Disk Drusen	Associate	39865650
Parkinson Disease	Stimulate	33035386
Tooth Loss	Associate	29309402
Townes Brocks syndrome	Associate	33478437
Vestibular Diseases	Associate	20346435, 25788564

PTPRQ (protein tyrosine phosphatase receptor type Q)