LOCUS       NM_001195263            4112 bp    mRNA    linear   PRI 22-MAR-2025
DEFINITION  Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 1,
            mRNA.
ACCESSION   NM_001195263
VERSION     NM_001195263.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4112)
  AUTHORS   Nouri,Z., Sarmadi,A., Narrei,S., Kianersi,H., Kianersi,F. and
            Tabatabaiefar,M.A.
  TITLE     Clinical characterizations and molecular genetic study of two
            co-segregating variants in PDZD7 and PDE6C genes leading
            simultaneously to non-syndromic hearing loss and achromatopsia
  JOURNAL   BMC Med Genomics 17 (1), 173 (2024)
   PUBMED   38956522
  REMARK    GeneRIF: Clinical characterizations and molecular genetic study of
            two co-segregating variants in PDZD7 and PDE6C genes leading
            simultaneously to non-syndromic hearing loss and achromatopsia.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4112)
  AUTHORS   Du,Q., Sun,Q., Gu,X., Wang,J., Li,W., Guo,L. and Li,H.
  TITLE     Novel homozygous variant in the PDZD7 gene in a family with
            nonsyndromic sensorineural hearing loss
  JOURNAL   BMC Med Genomics 15 (1), 135 (2022)
   PUBMED   35715776
  REMARK    GeneRIF: Novel homozygous variant in the PDZD7 gene in a family
            with nonsyndromic sensorineural hearing loss.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4112)
  AUTHORS   Lee,S.Y., Han,J.H., Kim,B.J., Oh,S.H., Lee,S., Oh,D.Y. and
            Choi,B.Y.
  TITLE     Identification of a Potential Founder Effect of a Novel PDZD7
            Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss
            in Koreans
  JOURNAL   Int J Mol Sci 20 (17), 4174 (2019)
   PUBMED   31454969
  REMARK    GeneRIF: PDZD7 can be an important causative gene for moderate to
            severe ARNSHL in Koreans. Moreover, at least some, if not all,
            p.Arg164Trp alleles in Koreans could exert a potential founder
            effect and arise from diverse haplotypes as a mutational hot spot.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4112)
  AUTHORS   Luo,H., Hassan,R.N., Yan,J., Xie,J., Du,P., Hu,Q., Zhu,Y. and
            Jiang,W.
  TITLE     Novel recessive PDZD7 biallelic mutations associated with
            hereditary hearing loss in a Chinese pedigree
  JOURNAL   Gene 709, 65-74 (2019)
   PUBMED   31129248
  REMARK    GeneRIF: Three mutations in PDZD7 gene linked to autosomal
            recessive non-syndromic hearing loss (ARNSHL) were identified in a
            Chinese pedigree. The findings expand not only our knowledge of
            genetic causes of ARNSHL, but also PDZD7 genes mutation spectrum of
            the disease. They will aid personalized genetic counseling,
            molecular diagnostics and clinical management of this condition.
REFERENCE   5  (bases 1 to 4112)
  AUTHORS   Zhang,Y., Tang,B., Song,J., Yu,S., Li,Y., Su,H. and He,S.
  TITLE     Lnc-PDZD7 contributes to stemness properties and chemosensitivity
            in hepatocellular carcinoma through EZH2-mediated ATOH8
            transcriptional repression
  JOURNAL   J Exp Clin Cancer Res 38 (1), 92 (2019)
   PUBMED   30786928
  REMARK    Retracted:[J Exp Clin Cancer Res. 2025 Mar 21;44(1):101. doi:
            10.1186/s13046-025-03364-0. PMID: 40114172]
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4112)
  AUTHORS   Yoshimura,H., Iwasaki,S., Nishio,S.Y., Kumakawa,K., Tono,T.,
            Kobayashi,Y., Sato,H., Nagai,K., Ishikawa,K., Ikezono,T., Naito,Y.,
            Fukushima,K., Oshikawa,C., Kimitsuki,T., Nakanishi,H. and Usami,S.
  TITLE     Massively parallel DNA sequencing facilitates diagnosis of patients
            with Usher syndrome type 1
  JOURNAL   PLoS One 9 (3), e90688 (2014)
   PUBMED   24618850
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 4112)
  AUTHORS   Grati,M., Shin,J.B., Weston,M.D., Green,J., Bhat,M.A.,
            Gillespie,P.G. and Kachar,B.
  TITLE     Localization of PDZD7 to the stereocilia ankle-link associates this
            scaffolding protein with the Usher syndrome protein network
  JOURNAL   J Neurosci 32 (41), 14288-14293 (2012)
   PUBMED   23055499
  REMARK    GeneRIF: PDZD7 is a scaffolding component of the ankle-link complex
            in stereocilia and is associated with the Usher syndrome protein
            network.
REFERENCE   8  (bases 1 to 4112)
  AUTHORS   Bohm,D., Keller,K., Pieter,J., Boehm,N., Wolters,D., Siggelkow,W.,
            Lebrecht,A., Schmidt,M., Kolbl,H., Pfeiffer,N. and Grus,F.H.
  TITLE     Comparison of tear protein levels in breast cancer patients and
            healthy controls using a de novo proteomic approach
  JOURNAL   Oncol Rep 28 (2), 429-438 (2012)
   PUBMED   22664934
REFERENCE   9  (bases 1 to 4112)
  AUTHORS   Ebermann,I., Phillips,J.B., Liebau,M.C., Koenekoop,R.K.,
            Schermer,B., Lopez,I., Schafer,E., Roux,A.F., Dafinger,C.,
            Bernd,A., Zrenner,E., Claustres,M., Blanco,B., Nurnberg,G.,
            Nurnberg,P., Ruland,R., Westerfield,M., Benzing,T. and Bolz,H.J.
  TITLE     PDZD7 is a modifier of retinal disease and a contributor to digenic
            Usher syndrome
  JOURNAL   J Clin Invest 120 (6), 1812-1823 (2010)
   PUBMED   20440071
  REMARK    GeneRIF: PDZD7 is a modifier of retinal disease and a contributor
            to digenic Usher syndrome.
REFERENCE   10 (bases 1 to 4112)
  AUTHORS   Schneider,E., Marker,T., Daser,A., Frey-Mahn,G., Beyer,V.,
            Farcas,R., Schneider-Ratzke,B., Kohlschmidt,N., Grossmann,B.,
            Bauss,K., Napiontek,U., Keilmann,A., Bartsch,O., Zechner,U.,
            Wolfrum,U. and Haaf,T.
  TITLE     Homozygous disruption of PDZD7 by reciprocal translocation in a
            consanguineous family: a new member of the Usher syndrome protein
            interactome causing congenital hearing impairment
  JOURNAL   Hum Mol Genet 18 (4), 655-666 (2009)
   PUBMED   19028668
  REMARK    GeneRIF: PDZD7 is a new autosomal-recessive deafness-causing gene
            and a prime candidate gene for Usher syndrome.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA197280.1, FJ617449.1,
            AK026862.1 and AL133215.17.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_001195263.1.
            
            Summary: This gene encodes a ciliary protein homologous to proteins
            which are mutated in Usher syndrome patients, and mutations and
            translocations involving this gene have been associated with two
            types of Usher syndrome. Multiple transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Dec 2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: FJ617449.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000619208.6/ ENSP00000480489.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 DA197280.1         30-37
            9-57                FJ617449.1         1-49
            58-448              AK026862.1         51-441
            449-3413            FJ617449.1         355-3319
            3414-3867           AL133215.17        90748-91201         c
            3868-4108           FJ617449.1         3773-4013
            4109-4112           AL133215.17        90503-90506         c
FEATURES             Location/Qualifiers
     source          1..4112
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.31"
     gene            1..4112
                     /gene="PDZD7"
                     /gene_synonym="DFNB57; PDZK7"
                     /note="PDZ domain containing 7"
                     /db_xref="GeneID:79955"
                     /db_xref="HGNC:HGNC:26257"
                     /db_xref="MIM:612971"
     exon            1..57
                     /gene="PDZD7"
                     /gene_synonym="DFNB57; PDZK7"
                     /inference="alignment:Splign:2.1.0"
     exon            58..448
                     /gene="PDZD7"
                     /gene_synonym="DFNB57; PDZK7"
                     /inference="alignment:Splign:2.1.0"
     CDS             223..3324
                     /gene="PDZD7"
                     /gene_synonym="DFNB57; PDZK7"
                     /note="isoform 1 is encoded by transcript variant 1; PDZ
                     domain-containing protein 7; deafness, autosomal recessive
                     57"
                     /codon_start=1
                     /product="PDZ domain-containing protein 7 isoform 1"
                     /protein_id="NP_001182192.1"
                     /db_xref="CCDS:CCDS73182.1"
                     /db_xref="GeneID:79955"
                     /db_xref="HGNC:HGNC:26257"
                     /db_xref="MIM:612971"
                     /translation="MAQGFAVGFDPLGLGDLSSGSLSSLSSRGHLGSDSGSTATRYLL
                     RKQQRLLNGPPRGIRASSPMGRVILINSPIEANSDESDIIHSVRVEKSPAGRLGFSVR
                     GGSEHGLGIFVSKVEEGSSAERAGLCVGDKITEVNGLSLESTTMGSAVKVLTSSSRLH
                     MMVRRMGRVPGIKFSKEKTTWVDVVNRRLVVEKCGSTPSDTSSEDGVRRIVHLYTTSD
                     DFCLGFNIRGGKEFGLGIYVSKVDHGGLAEENGIKVGDQVLAANGVRFDDISHSQAVE
                     VLKGQTHIMLTIKETGRYPAYKEMVSEYCWLDRLSNGVLQQLSPASESSSSVSSCASS
                     APYSSGSLPSDRMDICLGQEEPGSRGPGWGRADTAMQTEPDAGGRVETWCSVRPTVIL
                     RDTAIRSDGPHPGRRLDSALSESPKTALLLALSRPRPPITRSQSYLTLWEEKQQRKKE
                     KSGSPGEKGALQRSKTLMNLFFKGGRQGRLARDGRREAWTLDSGSLAKTYPRLDIEKA
                     GGVGPVQKFVTWRLRRDQERGRALLSARSGSPSSQLPNVDEQVQAWESRRPLIQDLAQ
                     RLLTDDEVLAVTRHCSRYVHEGGIEDLVRPLLAILDRPEKLLLLQDIRSVVAPTDLGR
                     FDSMVMLVELEAFEALKSRAVRPPALRPARQDTPPKRHLITPVPDSRGGFYLLPVNGF
                     PEEEDNGELRERLGALKVSPSASAPRHPHKGIPPLQDVPVDAFTPLRIACTPPPQLPP
                     VAPRPLRPNWLLTEPLSREHPPQSQIRGRAQSRSRSRSRSRSRSSRGQGKSPGRRSPS
                     PVPTPAPSMTNGRYHKPRKARPPLPRPLDGEAAKVGAKQGPSESGTEGTAKEAAMKNP
                     SGELKTVTLSKMKQSLGISISGGIESKVQPMVKIEKIFPGGAAFLSGALQAGFELVAV
                     DGENLEQVTHQRAVDTIRRAYRNKAREPMELVVRVPGPSPRPSPSDSSALTDGGLPAD
                     HLPAHQPLDAAPVPAHWLPEPPTNPQTPPTDARLLQPTPSPAPSPALQTPDSKPAPSP
                     RIP"
     exon            449..589
                     /gene="PDZD7"
                     /gene_synonym="DFNB57; PDZK7"
                     /inference="alignment:Splign:2.1.0"
     exon            590..764
                     /gene="PDZD7"
                     /gene_synonym="DFNB57; PDZK7"
                     /inference="alignment:Splign:2.1.0"
     exon            765..941
                     /gene="PDZD7"
                     /gene_synonym="DFNB57; PDZK7"
                     /inference="alignment:Splign:2.1.0"
     exon            942..1089
                     /gene="PDZD7"
                     /gene_synonym="DFNB57; PDZK7"
                     /inference="alignment:Splign:2.1.0"
     exon            1090..1150
                     /gene="PDZD7"
                     /gene_synonym="DFNB57; PDZK7"
                     /inference="alignment:Splign:2.1.0"
     exon            1151..1546
                     /gene="PDZD7"
                     /gene_synonym="DFNB57; PDZK7"
                     /inference="alignment:Splign:2.1.0"
     exon            1547..1744
                     /gene="PDZD7"
                     /gene_synonym="DFNB57; PDZK7"
                     /inference="alignment:Splign:2.1.0"
     exon            1745..1795
                     /gene="PDZD7"
                     /gene_synonym="DFNB57; PDZK7"
                     /inference="alignment:Splign:2.1.0"
     exon            1796..1971
                     /gene="PDZD7"
                     /gene_synonym="DFNB57; PDZK7"
                     /inference="alignment:Splign:2.1.0"
     exon            1972..2063
                     /gene="PDZD7"
                     /gene_synonym="DFNB57; PDZK7"
                     /inference="alignment:Splign:2.1.0"
     exon            2064..2155
                     /gene="PDZD7"
                     /gene_synonym="DFNB57; PDZK7"
                     /inference="alignment:Splign:2.1.0"
     exon            2156..2227
                     /gene="PDZD7"
                     /gene_synonym="DFNB57; PDZK7"
                     /inference="alignment:Splign:2.1.0"
     exon            2228..2839
                     /gene="PDZD7"
                     /gene_synonym="DFNB57; PDZK7"
                     /inference="alignment:Splign:2.1.0"
     exon            2840..2940
                     /gene="PDZD7"
                     /gene_synonym="DFNB57; PDZK7"
                     /inference="alignment:Splign:2.1.0"
     exon            2941..4112
                     /gene="PDZD7"
                     /gene_synonym="DFNB57; PDZK7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4004..4009
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDZD7"
                     /gene_synonym="DFNB57; PDZK7"
                     /note="hexamer: AAGAAA"
     polyA_site      4025
                     /gene="PDZD7"
                     /gene_synonym="DFNB57; PDZK7"
     regulatory      4089..4094
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDZD7"
                     /gene_synonym="DFNB57; PDZK7"
                     /note="hexamer: AATAAA"
     polyA_site      4112
                     /gene="PDZD7"
                     /gene_synonym="DFNB57; PDZK7"
                     /note="major polyA site"
ORIGIN      
        1 agtagctctc gcctgcgggt ggtttgacaa ggctggcggc gccacaccag cgaccaggcc
       61 tggagctcac acttctgaga ggcatcgcaa gcgagggcct tcacgttact gagaccccag
      121 ccccgcacag aggctcatgg agctcgaagc acgcagggct ggcctctcca gagctagcag
      181 attccttctg gacctgtagg gtgccgccct agcccagccg ccatggcgca gggtttcgca
      241 gtgggcttcg acccactggg cctaggagac ctgagctccg gctctctgag ctccctctcc
      301 tcccgaggcc acctaggcag cgactcaggc tccaccgcaa cgcgatacct gctaaggaag
      361 caacaacggc tgctgaacgg gcccccccgc ggaatccgag cctcatcgcc catgggacgc
      421 gtcatcctca tcaactcccc catcgaagcc aacagtgatg aaagtgacat catccattca
      481 gtccgggtgg agaagagtcc agcagggagg ctgggcttca gcgtgcgcgg gggctcagag
      541 catggcctgg gcatcttcgt cagcaaagtg gaggaaggca gcagtgcaga gcgggctggc
      601 ctgtgcgtgg gggacaagat cacggaggtg aatgggctga gcctggagag caccaccatg
      661 ggtagcgccg taaaggtgct gaccagcagc agccgcctgc acatgatggt tcggcgcatg
      721 ggccgtgtgc cgggcatcaa gttctccaag gagaagacca cgtgggtgga tgtggtgaat
      781 cggcgcctgg tagtggagaa gtgcggttca acaccctccg acaccagctc agaagatggt
      841 gtccggcgca tcgtccacct atacacaacc tccgacgact tctgcctggg cttcaacatc
      901 cgtgggggca aggagtttgg cctgggcatc tatgtgtcca aagtggacca tggtgggctg
      961 gccgaggaga atggcatcaa ggtgggggac caggtcctgg cagccaacgg tgtcaggttt
     1021 gacgacatca gccacagcca ggccgtggag gtgctgaagg gccaaacgca catcatgctg
     1081 accatcaagg agaccggccg gtatcctgcc tacaaggaga tggtttctga gtactgctgg
     1141 ctggaccgac tgagcaacgg ggtgctgcag cagctgtccc cggcctctga gagcagctcc
     1201 agcgtctctt cgtgcgcctc cagcgccccc tacagctcgg gctccctgcc gtcggaccgc
     1261 atggacatct gcctcgggca ggaggagccc ggcagccgcg gcccaggctg ggggcgggcg
     1321 gacacagcca tgcagacgga gcccgatgcg ggaggccggg tggagacctg gtgcagcgtg
     1381 cggcccacag tcatcctcag ggacaccgcc atccgctcgg acggccccca tcccggccgc
     1441 cgccttgact ctgcgctctc tgagtctccc aagacggctt tgctgctggc cctcagccga
     1501 ccccggcccc ccatcacgcg ctcccagagc tatctgacct tgtgggagga gaagcagcag
     1561 cggaagaagg agaagtcggg gtcccctggg gagaagggtg ccctgcagcg ctccaagacg
     1621 ctgatgaacc tcttcttcaa gggagggcgg caggggaggc tagcgcggga cgggcgcaga
     1681 gaggcctgga cactggacag cgggagcctg gccaaaactt accctcgcct ggacatagag
     1741 aaagcagggg gcgtgggccc ggtacagaag tttgtcacct ggagactgag acgtgaccag
     1801 gagaggggcc gggccctgct gtctgccagg tctgggagtc cctccagcca gctgcctaat
     1861 gtggatgagc aggttcaggc ctgggagagc cggcggcccc tcattcagga cctggcccag
     1921 aggctgctga ctgatgacga ggtgctggct gtcacccgcc actgctcccg gtatgtgcac
     1981 gagggaggca tagaggacct ggtgaggccc ctgctggcca tcctcgacag gccggagaag
     2041 ctgctactgc tgcaggacat caggagtgtg gtggccccca cagacctggg ccgcttcgac
     2101 agcatggtga tgcttgtgga gctggaggct tttgaggccc tcaagagcag ggcagtccgg
     2161 cctcctgctt tgagaccagc ccggcaggac acgccaccca agcgtcacct tatcaccccc
     2221 gtgcctgaca gccgcggagg cttctacctg ctgccggtga acggcttccc ggaagaggaa
     2281 gataatgggg agctgaggga gcggctgggg gccctcaagg tctccccaag tgcctctgcc
     2341 cctcgccacc cccataaagg gatcccccct ctacaagacg tgccagtaga tgccttcacc
     2401 cccctccgaa ttgcctgcac accccctccc cagctacccc ccgtggctcc ccggcccctg
     2461 cggcctaact ggctgctgac agaacccctg agccgagagc accctccgca gagccagatc
     2521 cggggccggg ctcagagccg tagccgcagc cgtagccgca gccgcagccg cagcagccgg
     2581 ggtcaaggca agtctccagg tagacgctcc ccatccccgg tgcctacccc tgcccccagc
     2641 atgaccaatg ggcgctacca caagcctcgg aaggccagac cccctctgcc acgacctctg
     2701 gatggggagg cagccaaggt gggggccaag caagggccct cggagagtgg aactgagggg
     2761 acggccaagg aggcagccat gaagaacccc agtggcgagc tgaagacagt gacactgtcc
     2821 aagatgaagc agtccttagg tatcagcatt tctgggggca ttgagtccaa ggtgcagccc
     2881 atggtgaaga tagagaagat cttccctggg ggggccgctt tcctcagtgg ggccctgcag
     2941 gctggcttcg agcttgtggc agtggacgga gagaatctag agcaggtgac ccaccagcgt
     3001 gcagtagaca ccatccgtcg ggcttatcga aacaaggccc gggagcccat ggagcttgtg
     3061 gtcagggtcc ccgggcccag cccacggccc tcaccctctg actcatcagc ccttactgat
     3121 gggggccttc ctgctgacca cttgcctgcc caccaacccc ttgatgctgc tccagttcct
     3181 gcccactggc tcccagaacc tcccaccaat ccccagactc ctcccactga tgccaggctc
     3241 ctccagccaa ctcccagccc agccccctcc ccagccctcc agactcctga ttctaagccc
     3301 gcaccctccc cacgcatccc atgaccctcc ccctaacctc agattcaccc actgactcca
     3361 gcatcccgtt atccccagga cctctcctac caacttcttc aggactctcc agctcctgcc
     3421 caccctgcct cctcccagtg ccacactggt ggctcacatc tttccacttt cttccctcct
     3481 cagctgtcat taaggctctg ccttagtgtc caaggacaag gtgctagtgg gcagcctgtg
     3541 tcacctgcac tcactgctcc ccaacctccc aagccaggat agggggtgag aaagccaagg
     3601 tctggagctt gggattggtg ggcactttct cacatgctgt cccttatgag tcgcccaagc
     3661 ctccagggac acagactctc agacagggcc ctgaaggggt caatgcatcc attcctcaac
     3721 cccaagcagc attctgtgca aggaaacgga tgaaaggctt ttctagtccc tgaaatcctg
     3781 agagatcatt tcacgttggg gtccactaag acctcagaca ttctactgga tttgtccttc
     3841 ctccatcacc ttttctcccc aagagagctc tatgaggggg aggagaatag ccagcaaatg
     3901 gtgggggggg gggggtcaaa caagttcctg tactctttat ccagcacatt cacattattt
     3961 ttaaacaaaa aaattttttt taattttttc tttgggtttg tacaagaaat ttacagtgtg
     4021 aaaaatatac aagtgaaaac gaggccataa acctgggtga agggagaggc tgcttggtca
     4081 caaacacaaa taaacaagac atttctgagt tc
//
