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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deafness	Likely pathogenic; Pathogenic	rs1565819402, rs1565855932	RCV000679835 RCV000679834	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ear malformation	Likely pathogenic	rs2121304960, rs1592779077	RCV001814555 RCV001836908	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal dominant 73	Pathogenic; Likely pathogenic	rs2121223982, rs916582229	RCV001542772 RCV001262191	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive	Likely pathogenic; Pathogenic	rs1565819402, rs1565855932	RCV001291238 RCV001291239	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic hearing loss	Pathogenic	rs1896318374	RCV006266666	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PTPRQ-related disorder	Likely pathogenic; Pathogenic	rs1450763362, rs1283638306, rs377572771	RCV003400152 RCV003897005 RCV004754548	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EAR ANOMALY NOS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL PES CAVUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 73	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 84A	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance; Benign; Likely benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERICARDITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERICARDIUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural hearing loss disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (25)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autosomal dominant non-syndromic sensorineural deafness type DFNA	Non-Syndromic Sensorineural Deafness	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36153509	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25169130		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pes cavus	Congenital Pes Cavus	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	BEFREE	25788564, 29849575		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	25788564, 25919374, 37106574	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	Deafness	CLINGEN_DG	14534255, 18412156, 20346435, 20472657, 22357859, 24285636, 24446963, 25919374		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 84A	Deafness	GENOMICS_ENGLAND_DG	20346435		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 84A	Deafness	UNIPROT_DG	20346435, 20472657		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 84A	Deafness	BEFREE	20472657		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 84A	Deafness	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 84A	Deafness	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss	Hearing loss	Pubtator	19888295	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	20346435, 25788564, 25919374, 29309402, 29849575, 33478437, 33997018, 37106574, 40165225	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	25788564, 25919374, 29849575, 37106574	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	33035386	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	33035386	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus Normal Pressure	Normal pressure hydrocephalus	Pubtator	33035386	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	20346435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	33035386	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prelingual sensorineural hearing impairment	Sensorineural hearing loss	BEFREE	25557914		★★★★★ ★☆☆☆☆ Found in Text Mining only
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vestibular Diseases	Vestibular disease	Pubtator	20346435, 25788564	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PTPRQ (protein tyrosine phosphatase receptor type Q)