Property Summary

NCBI Gene PubMed Count 14
PubMed Score 6.16
PubTator Score 4.03

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
osteosarcoma 1.093 0.000
breast carcinoma 1.200 0.024
sonic hedgehog group medulloblastoma -1.100 0.000
psoriasis -2.200 0.000

Synonym

Accession Q9H5P4 D5FJ77 Q8N321
Symbols PDZK7
DFNB57

Gene

PDB

2EEH  

Gene RIF (6)

PMID Text
26416264 Mutations in PDZD7 cause autosomal recessive non-syndromic hearing loss.
25406310 Both WHRN and PDZD7 are required for the complex formation with USH2A and GPR98.
24962568 overexpression of another Usher syndrome protein, PDZD7, decreased the AC inhibition of the VLGR1 beta-subunit
23055499 PDZD7 is a scaffolding component of the ankle-link complex in stereocilia and is associated with the Usher syndrome protein network.
20440071 PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.
19028668 PDZD7 is a new autosomal-recessive deafness-causing gene and a prime candidate gene for Usher syndrome.

AA Sequence

MAQGFAVGFDPLGLGDLSSGSLSSLSSRGHLGSDSGSTATRYLLRKQQRLLNGPPRGIRASSPMGRVILI      1 - 70
NSPIEANSDESDIIHSVRVEKSPAGRLGFSVRGGSEHGLGIFVSKVEEGSSAERAGLCVGDKITEVNGLS     71 - 140
LESTTMGSAVKVLTSSSRLHMMVRRMGRVPGIKFSKEKTTWVDVVNRRLVVEKCGSTPSDTSSEDGVRRI    141 - 210
VHLYTTSDDFCLGFNIRGGKEFGLGIYVSKVDHGGLAEENGIKVGDQVLAANGVRFDDISHSQAVEVLKG    211 - 280
QTHIMLTIKETGRYPAYKEMVSEYCWLDRLSNGVLQQLSPASESSSSVSSCASSAPYSSGSLPSDRMDIC    281 - 350
LGQEEPGSRGPGWGRADTAMQTEPDAGGRVETWCSVRPTVILRDTAIRSDGPHPGRRLDSALSESPKTAL    351 - 420
LLALSRPRPPITRSQSYLTLWEEKQQRKKEKSGSPGEKGALQRSKTLMNLFFKGGRQGRLARDGRREAWT    421 - 490
LDSGSLAKTYPRLDIEKEMGVSPCCPG                                               491 - 517
//

Text Mined References (15)

PMID Year Title
26416264 2015 PDZD7 and hearing loss: More than just a modifier.
25406310 2014 Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2.
24962568 2014 Constitutive G?i coupling activity of very large G protein-coupled receptor 1 (VLGR1) and its regulation by PDZD7 protein.
24618850 2014 Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.
23055499 2012 Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network.
22664934 2012 Comparison of tear protein levels in breast cancer patients and healthy controls using a de novo proteomic approach.
20440071 2010 PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19028668 2009 Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
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