Property Summary

NCBI Gene PubMed Count 16
Grant Count 2
Funding $666,306.1
PubMed Score 10.45
PubTator Score 15.51

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -2.100 0.000

Synonym

Accession Q9UMZ3
Symbols DFNB84
DFNB84A
PTPGMC1
R-PTP-Q

Gene

 Grant Application (2)

PDB

4IKC  

Gene RIF (9)

PMID Text
26851024 Confirm contribution of PTPRZ1, and especially PTPRQ, in CRC carcinogenesis and demonstrated that PTPRQ expression is correlated with KRAS mutation.
25919374 two novel compound heterozygous missense mutations, c. 3125 A>G p.D1042G and c.5981 A>G p.E1994G in the PTPRQ gene, were identified as the cause of recessively inherited sensorineural hearing loss in family 1572.
25788564 Identification of four causative mutations in the PTPRQ gene as a cause of congenital sensorineural hearing loss in a Japanese population.
25557914 novel c.16_17insT (L8fsX18) and c.2714delA (E909fsX922)mutations in PTPRQ presented here further confirms the essential role of PTPRQ in hearing development and auditory function
23897475 PTPRQ crystal structure shows the basis for the dephosphorylating activity of PTPRQ towards phosphatidylinositide substrates.
20472657 Identification of the DFNB84 gene represents the first identification of PTPRQ mutation in human hearing loss.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20346435 Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.
19351528 Overexpression of PTP-RQ consistently led to reduced differentiation of mesenchymal stem cells into adipocytes via decreasing the phosphatidyl inositol phosphate level in cells, and consequently downregulating Akt/PKB phosphorylation.

AA Sequence

MKKVPIKPEQPEKLRAFNISTHSFSLHWSLPSGHVERYQVDLVPDSGFVTIRDLGGGEYQVDVSNVVPGT      1 - 70
RYDITISSISTTYTSPVTRIVTTNVTKPGPPVFLAGERVGSAGILLSWNTPPNPNGRIISYIVKYKEVCP     71 - 140
WMQTVYTQVRSKPDSLEVLLTNLNPGTTYEIKVAAENSAGIGVFSDPFLFQTAESAPGKVVNLTVEAYNA    141 - 210
SAVKLIWYLPRQPNGKITSFKISVKHARSGIVVKDVSIRVEDILTGKLPECNENSESFLWSTASPSPTLG    211 - 280
RVTPPSRTTHSSSTLTQNEISSVWKEPISFVVTHLRPYTTYLFEVSAVTTEAGYIDSTIVRTPESVPEGP    281 - 350
PQNCVTGNITGKSFSILWDPPTIVTGKFSYRVELYGPSGRILDNSTKDLKFAFTNLTPFTMYDVYIAAET    351 - 420
SAGTGPKSNISVFTPPDVPGAVFDLQLAEVESTQVRITWKKPRQPNGIINQYRVKVLVPETGIILENTLL    421 - 490
TGNNEYINDPMAPEIVNIVEPMVGLYEGSAEMSSDLHSLATFIYNSHPDKNFPARNRAEDQTSPVVTTRN    491 - 560
QYITDIAAEQLSYVIRRLVPFTEHMISVSAFTIMGEGPPTVLSVRTRQQVPSSIKIINYKNISSSSILLY    561 - 630
WDPPEYPNGKITHYTIYAMELDTNRAFQITTIDNSFLITGLKKYTKYKMRVAASTHVGESSLSEENDIFV    631 - 700
RTSEDEPESSPQDVEVIDVTADEIRLKWSPPEKPNGIIIAYEVLYKNIDTLYMKNTSTTDIILRNLRPHT    701 - 770
LYNISVRSYTRFGHGNQVSSLLSVRTSETVPDSAPENITYKNISSGEIELSFLPPSSPNGIIKKYTIYLK    771 - 840
RSNGNEERTINTTSLTQNIKVLKKYTQYIIEVSASTLKGEGVRSAPISILTEEDAPDSPPQDFSVKQLSG    841 - 910
VTVKLSWQPPLEPNGIILYYTVYVWNRSSLKTINVTETSLELSDLDYNVEYSAYVTASTRFGDGKTRSNI    911 - 980
ISFQTPEGAPSDPPKDVYYANLSSSSIILFWTPPSKPNGIIQYYSVYYRNTSGTFMQNFTLHEVTNDFDN    981 - 1050
MTVSTIIDKLTIFSYYTFWLTASTSVGNGNKSSDIIEVYTDQDIPEGFVGNLTYESISSTAINVSWVPPA   1051 - 1120
QPNGLVFYYVSLILQQTPRHVRPPLVTYERSIYFDNLEKYTDYILKITPSTEKGFSDTYTAQLYIKTEED   1121 - 1190
VPETSPIINTFKNLSSTSVLLSWDPPVKPNGAIISYDLTLQGPNENYSFITSDNYIILEELSPFTLYSFF   1191 - 1260
AAARTRKGLGPSSILFFYTDESVPLAPPQNLTLINCTSDFVWLKWSPSPLPGGIVKVYSFKIHEHETDTI   1261 - 1330
YYKNISGFKTEAKLVGLEPVSTYSIRVSAFTKVGNGNQFSNVVKFTTQESVPDVVQNMQCMATSWQSVLV   1331 - 1400
KWDPPKKANGIITQYMVTVERNSTKVSPQDHMYTFIKLLANTSYVFKVRASTSAGEGDESTCHVSTLPET   1401 - 1470
VPSVPTNIAFSDVQSTSATLTWIRPDTILGYFQNYKITTQLRAQKCKEWESEECVEYQKIQYLYEAHLTE   1471 - 1540
ETVYGLKKFRWYRFQVAASTNAGYGNASNWISTKTLPGPPDGPPENVHVVATSPFSISISWSEPAVITGP   1541 - 1610
TCYLIDVKSVDNDEFNISFIKSNEENKTIEIKDLEIFTRYSVVITAFTGNISAAYVEGKSSAEMIVTTLE   1611 - 1680
SAPKDPPNNMTFQKIPDEVTKFQLTFLPPSQPNGNIQVYQALVYREDDPTAVQIHNLSIIQKTNTFVIAM   1681 - 1750
LEGLKGGHTYNISVYAVNSAGAGPKVPMRITMDIKAPARPKTKPTPIYDATGKLLVTSTTITIRMPICYY   1751 - 1820
SDDHGPIKNVQVLVTETGAQHDGNVTKWYDAYFNKARPYFTNEGFPNPPCTEGKTKFSGNEEIYIIGADN   1821 - 1890
ACMIPGNEDKICNGPLKPKKQYLFKFRATNIMGQFTDSDYSDPVKTLGEGLSERTVEIILSVTLCILSII   1891 - 1960
LLGTAIFAFARIRQKQKEGGTYSPQDAEIIDTKLKLDQLITVADLELKDERLTRPISKKSFLQHVEELCT   1961 - 2030
NNNLKFQEEFSELPKFLQDLSSTDADLPWNRAKNRFPNIKPYNNNRVKLIADASVPGSDYINASYISGYL   2031 - 2100
CPNEFIATQGPLPGTVGDFWRMVWETRAKTLVMLTQCFEKGRIRCHQYWPEDNKPVTVFGDIVITKLMED   2101 - 2170
VQIDWTIRDLKIERHGDCMTVRQCNFTAWPEHGVPENSAPLIHFVKLVRASRAHDTTPMIVHCSAGVGRT   2171 - 2240
GVFIALDHLTQHINDHDFVDIYGLVAELRSERMCMVQNLAQYIFLHQCILDLLSNKGSNQPICFVNYSAL   2241 - 2310
QKMDSLDAMEGDVELEWEETTM                                                   2311 - 2332
//

Text Mined References (16)

PMID Year Title
26851024 2016 High PTPRQ Expression and Its Relationship to Expression of PTPRZ1 and the Presence of KRAS Mutations in Colorectal Cancer Tissues.
25919374 2015 Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family.
25788564 2015 Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss.
25557914 2015 Identification of a novel compound heterozygous mutation in PTPRQ in a DFNB84 family with prelingual sensorineural hearing impairment.
23897475 2013 Structural basis for the dephosphorylating activity of PTPRQ towards phosphatidylinositide substrates.
20472657 2010 Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20346435 2010 Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.
19888295 2010 Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.
19351528 2009 Involvement of PTP-RQ in differentiation during adipogenesis of human mesenchymal stem cells.
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