PDZD7
entrez
79955
canonical
uniprot
Q9H5P4
canonical
ensembl
ENSG00000186862
resolver
ensp
ENSP00000359234
resolver
ensp
ENSP00000480489
resolver
ensp
ENSP00000495283
resolver
ensp
ENSP00000496747
resolver
ensp
ENSP00000582249
resolver
ensp
ENSP00000645086
resolver
ensp
ENSP00000718327
resolver
ensp
ENSP00000798476
resolver
enst
ENST00000644782
resolver
enst
ENST00000645349
resolver
genesymbol
PDZD7
resolver
genesymbol_syn
PDZK7
resolver
hgnc
HGNC:26257
resolver
uniprot
A0A2R8Y892
resolver
uniprot
A0A2R8YFN1
resolver
uniprot
D5FJ77
resolver
uniprot
Q8N321
resolver
uniprot_entry
A0A2R8Y892_HUMAN
resolver
uniprot_entry
A0A2R8YFN1_HUMAN
resolver
uniprot_entry
PDZD7_HUMAN
resolver
uniprot_sec
D5FJ77
resolver
uniprot_sec
Q8N321
resolver
amino_acid_sequence
MAQGFAVGFDPLGLGDLSSGSLSSLSSRGHLGSDSGSTATRYLLRKQQRLLNGPPRGIRASSPMGRVILINSPIEANSDESDIIHSVRVEKSPAGRLGFSVRGGSEHGLGIFVSKVEEGSSAERAGLCVGDKITEVNGLSLESTTMGSAVKVLTSSSRLHMMVRRMGRVPGIKFSKEKTTWVDVVNRRLVVEKCGSTPSDTSSEDGVRRIVHLYTTSDDFCLGFNIRGGKEFGLGIYVSKVDHGGLAEENGIKVGDQVLAANGVRFDDISHSQAVEVLKGQTHIMLTIKETGRYPAYKEMVSEYCWLDRLSNGVLQQLSPASESSSSVSSCASSAPYSSGSLPSDRMDICLGQEEPGSRGPGWGRADTAMQTEPDAGGRVETWCSVRPTVILRDTAIRSDGPHPGRRLDSALSESPKTALLLALSRPRPPITRSQSYLTLWEEKQQRKKEKSGSPGEKGALQRSKTLMNLFFKGGRQGRLARDGRREAWTLDSGSLAKTYPRLDIEKAGGVGPVQKFVTWRLRRDQERGRALLSARSGSPSSQLPNVDEQVQAWESRRPLIQDLAQRLLTDDEVLAVTRHCSRYVHEGGIEDLVRPLLAILDRPEKLLLLQDIRSVVAPTDLGRFDSMVMLVELEAFEALKSRAVRPPALRPARQDTPPKRHLITPVPDSRGGFYLLPVNGFPEEEDNGELRERLGALKVSPSASAPRHPHKGIPPLQDVPVDAFTPLRIACTPPPQLPPVAPRPLRPNWLLTEPLSREHPPQSQIRGRAQSRSRSRSRSRSRSSRGQGKSPGRRSPSPVPTPAPSMTNGRYHKPRKARPPLPRPLDGEAAKVGAKQGPSESGTEGTAKEAAMKNPSGELKTVTLSKMKQSLGISISGGIESKVQPMVKIEKIFPGGAAFLSGALQAGFELVAVDGENLEQVTHQRAVDTIRRAYRNKAREPMELVVRVPGPSPRPSPSDSSALTDGGLPADHLPAHQPLDAAPVPAHWLPEPPTNPQTPPTDARLLQPTPSPAPSPALQTPDSKPAPSPRIP
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 57 (DFNB57) [MIM:618003]: A form of non-syndromic, sensorineural deafness characterized by symmetric, bilateral hearing loss with onset in early childhood. Vestibular function is preserved. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB57 severity ranges from moderate to severe. {ECO:0000269|PubMed:19028668, ECO:0000269|PubMed:26416264, ECO:0000269|PubMed:26849169, ECO:0000269|PubMed:29048736}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=A chromosomal aberration disrupting PDZD7 has been found in patients with non-syndromic sensorineural deafness. Translocation t(10;11),t(10;11). {ECO:0000269|PubMed:19028668}.; DISEASE: Usher syndrome 2C (USH2C) [MIM:605472]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. {ECO:0000269|PubMed:20440071}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. A PDZD7 mutation has been found in combination with a mutation in ADGRV1 in a patient affected by Usher syndrome, suggesting PDZD7 mutations contribute to digenic Usher syndrome. {ECO:0000269|PubMed:20440071}.; DISEASE: Usher syndrome 2A (USH2A) [MIM:276901]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. {ECO:0000269|PubMed:20440071}. Note=The gene represented in this entry acts as a disease modifier.
uniprot
proteins
function
FUNCTION: In cochlear developing hair cells, essential in organizing the USH2 complex at stereocilia ankle links. Blocks inhibition of adenylate cyclase activity mediated by ADGRV1. {ECO:0000250|UniProtKB:E9Q9W7}.
uniprot
proteins
mass_dalton
111752
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19028668
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20440071
uniprot
proteins
pubmed
26416264
uniprot
proteins
pubmed
26849169
uniprot
proteins
pubmed
29048736
uniprot
proteins
sequence_length
1033
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000269|PubMed:20440071}. Nucleus {ECO:0000269|PubMed:20440071}. Cell projection, stereocilium {ECO:0000250|UniProtKB:E9Q9W7}. Note=Localizes at the ankle region of the stereocilia. {ECO:0000250|UniProtKB:E9Q9W7}.
uniprot
proteins