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Previous release (v1)
2025-08-21 17:06:57, GGRNA.v2 : RefSeq release 230 (May, 2025)
LOCUS NM_001437429 4109 bp mRNA linear PRI 06-APR-2025
DEFINITION Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 4,
mRNA.
ACCESSION NM_001437429 XM_011540178 XM_054366765
VERSION NM_001437429.1
KEYWORDS RefSeq.
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 4109)
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 4109)
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 4109)
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 4109)
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 4109)
AUTHORS Guan,J., Wang,H., Lan,L., Wang,L., Yang,J., Xie,L., Yin,Z.,
Xiong,W., Zhao,L., Wang,D. and Wang,Q.
TITLE Novel recessive PDZD7 biallelic mutations in two Chinese families
with non-syndromic hearing loss
JOURNAL Am J Med Genet A 176 (1), 99-106 (2018)
PUBMED 29048736
REMARK GeneRIF: This is the first report to identify PDZD7 as an
ARNSHL-associated gene in the Chinese population. Our finding could
expand the pathogenic spectrum and strengthens the clinical
diagnostic role of the PDZD7 gene in ARNSHL patients.
REFERENCE 6 (bases 1 to 4109)
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 4109)
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 4109)
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 4109)
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 4109)
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 AL133215.17.
On or before Apr 3, 2025 this sequence version replaced
XM_011540178.4, XM_054366765.1.
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].
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##
Transcript exon combination :: SRR14038192.473173.1 [ECO:0000332]
RNAseq introns :: mixed sample support SAMEA1965299,
SAMEA1966682 [ECO:0006172]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-57 AL133215.17 113897-113953 c
58-448 AL133215.17 112818-113208 c
449-589 AL133215.17 106752-106892 c
590-764 AL133215.17 106260-106434 c
765-941 AL133215.17 105033-105209 c
942-1089 AL133215.17 104622-104769 c
1090-1150 AL133215.17 103442-103502 c
1151-1546 AL133215.17 101646-102041 c
1547-1744 AL133215.17 100923-101120 c
1745-1792 AL133215.17 99201-99248 c
1793-1968 AL133215.17 98460-98635 c
1969-2060 AL133215.17 94991-95082 c
2061-2152 AL133215.17 94749-94840 c
2153-2224 AL133215.17 94514-94585 c
2225-2836 AL133215.17 93096-93707 c
2837-2937 AL133215.17 92074-92174 c
2938-4109 AL133215.17 90503-91674 c
FEATURES Location/Qualifiers
source 1..4109
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="10"
/map="10q24.31"
gene 1..4109
/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"
misc_feature 175..177
/gene="PDZD7"
/gene_synonym="DFNB57; PDZK7"
/note="upstream in-frame stop codon"
CDS 223..3321
/gene="PDZD7"
/gene_synonym="DFNB57; PDZK7"
/note="isoform 4 is encoded by transcript variant 4; PDZ
domain-containing protein 7; deafness, autosomal recessive
57"
/codon_start=1
/product="PDZ domain-containing protein 7 isoform 4"
/protein_id="NP_001424358.1"
/db_xref="GeneID:79955"
/db_xref="HGNC:HGNC:26257"
/db_xref="MIM:612971"
/translation="
MAQGFAVGFDPLGLGDLSSGSLSSLSSRGHLGSDSGSTATRYLLRKQQRLLNGPPRGIRASSPMGRVILINSPIEANSDESDIIHSVRVEKSPAGRLGFSVRGGSEHGLGIFVSKVEEGSSAERAGLCVGDKITEVNGLSLESTTMGSAVKVLTSSSRLHMMVRRMGRVPGIKFSKEKTTWVDVVNRRLVVEKCGSTPSDTSSEDGVRRIVHLYTTSDDFCLGFNIRGGKEFGLGIYVSKVDHGGLAEENGIKVGDQVLAANGVRFDDISHSQAVEVLKGQTHIMLTIKETGRYPAYKEMVSEYCWLDRLSNGVLQQLSPASESSSSVSSCASSAPYSSGSLPSDRMDICLGQEEPGSRGPGWGRADTAMQTEPDAGGRVETWCSVRPTVILRDTAIRSDGPHPGRRLDSALSESPKTALLLALSRPRPPITRSQSYLTLWEEKQQRKKEKSGSPGEKGALQRSKTLMNLFFKGGRQGRLARDGRREAWTLDSGSLAKTYPRLDIEKGGVGPVQKFVTWRLRRDQERGRALLSARSGSPSSQLPNVDEQVQAWESRRPLIQDLAQRLLTDDEVLAVTRHCSRYVHEGGIEDLVRPLLAILDRPEKLLLLQDIRSVVAPTDLGRFDSMVMLVELEAFEALKSRAVRPPALRPARQDTPPKRHLITPVPDSRGGFYLLPVNGFPEEEDNGELRERLGALKVSPSASAPRHPHKGIPPLQDVPVDAFTPLRIACTPPPQLPPVAPRPLRPNWLLTEPLSREHPPQSQIRGRAQSRSRSRSRSRSRSSRGQGKSPGRRSPSPVPTPAPSMTNGRYHKPRKARPPLPRPLDGEAAKVGAKQGPSESGTEGTAKEAAMKNPSGELKTVTLSKMKQSLGISISGGIESKVQPMVKIEKIFPGGAAFLSGALQAGFELVAVDGENLEQVTHQRAVDTIRRAYRNKAREPMELVVRVPGPSPRPSPSDSSALTDGGLPADHLPAHQPLDAAPVPAHWLPEPPTNPQTPPTDARLLQPTPSPAPSPALQTPDSKPAPSPRIP"
misc_feature 1189..1362
/gene="PDZD7"
/gene_synonym="DFNB57; PDZK7"
/note="propagated from UniProtKB/Swiss-Prot (Q9H5P4.2);
Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
misc_feature 1552..1614
/gene="PDZD7"
/gene_synonym="DFNB57; PDZK7"
/note="propagated from UniProtKB/Swiss-Prot (Q9H5P4.2);
Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
misc_feature 2479..2811
/gene="PDZD7"
/gene_synonym="DFNB57; PDZK7"
/note="propagated from UniProtKB/Swiss-Prot (Q9H5P4.2);
Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
misc_feature 3046..3318
/gene="PDZD7"
/gene_synonym="DFNB57; PDZK7"
/note="propagated from UniProtKB/Swiss-Prot (Q9H5P4.2);
Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
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..1792
/gene="PDZD7"
/gene_synonym="DFNB57; PDZK7"
/inference="alignment:Splign:2.1.0"
exon 1793..1968
/gene="PDZD7"
/gene_synonym="DFNB57; PDZK7"
/inference="alignment:Splign:2.1.0"
exon 1969..2060
/gene="PDZD7"
/gene_synonym="DFNB57; PDZK7"
/inference="alignment:Splign:2.1.0"
exon 2061..2152
/gene="PDZD7"
/gene_synonym="DFNB57; PDZK7"
/inference="alignment:Splign:2.1.0"
exon 2153..2224
/gene="PDZD7"
/gene_synonym="DFNB57; PDZK7"
/inference="alignment:Splign:2.1.0"
exon 2225..2836
/gene="PDZD7"
/gene_synonym="DFNB57; PDZK7"
/inference="alignment:Splign:2.1.0"
exon 2837..2937
/gene="PDZD7"
/gene_synonym="DFNB57; PDZK7"
/inference="alignment:Splign:2.1.0"
exon 2938..4109
/gene="PDZD7"
/gene_synonym="DFNB57; PDZK7"
/inference="alignment:Splign:2.1.0"
regulatory 4001..4006
/regulatory_class="polyA_signal_sequence"
/gene="PDZD7"
/gene_synonym="DFNB57; PDZK7"
/note="hexamer: AAGAAA"
polyA_site 4022
/gene="PDZD7"
/gene_synonym="DFNB57; PDZK7"
regulatory 4086..4091
/regulatory_class="polyA_signal_sequence"
/gene="PDZD7"
/gene_synonym="DFNB57; PDZK7"
/note="hexamer: AATAAA"
polyA_site 4109
/gene="PDZD7"
/gene_synonym="DFNB57; PDZK7"
/note="major polyA site"
ORIGIN
agtagctctcgcctgcgggtggtttgacaaggctggcggcgccacaccagcgaccaggcctggagctcacacttctgagaggcatcgcaagcgagggccttcacgttactgagaccccagccccgcacagaggctcatggagctcgaagcacgcagggctggcctctccagagctagcagattccttctggacctgtagggtgccgccctagcccagccgccatggcgcagggtttcgcagtgggcttcgacccactgggcctaggagacctgagctccggctctctgagctccctctcctcccgaggccacctaggcagcgactcaggctccaccgcaacgcgatacctgctaaggaagcaacaacggctgctgaacgggcccccccgcggaatccgagcctcatcgcccatgggacgcgtcatcctcatcaactcccccatcgaagccaacagtgatgaaagtgacatcatccattcagtccgggtggagaagagtccagcagggaggctgggcttcagcgtgcgcgggggctcagagcatggcctgggcatcttcgtcagcaaagtggaggaaggcagcagtgcagagcgggctggcctgtgcgtgggggacaagatcacggaggtgaatgggctgagcctggagagcaccaccatgggtagcgccgtaaaggtgctgaccagcagcagccgcctgcacatgatggttcggcgcatgggccgtgtgccgggcatcaagttctccaaggagaagaccacgtgggtggatgtggtgaatcggcgcctggtagtggagaagtgcggttcaacaccctccgacaccagctcagaagatggtgtccggcgcatcgtccacctatacacaacctccgacgacttctgcctgggcttcaacatccgtgggggcaaggagtttggcctgggcatctatgtgtccaaagtggaccatggtgggctggccgaggagaatggcatcaaggtgggggaccaggtcctggcagccaacggtgtcaggtttgacgacatcagccacagccaggccgtggaggtgctgaagggccaaacgcacatcatgctgaccatcaaggagaccggccggtatcctgcctacaaggagatggtttctgagtactgctggctggaccgactgagcaacggggtgctgcagcagctgtccccggcctctgagagcagctccagcgtctcttcgtgcgcctccagcgccccctacagctcgggctccctgccgtcggaccgcatggacatctgcctcgggcaggaggagcccggcagccgcggcccaggctgggggcgggcggacacagccatgcagacggagcccgatgcgggaggccgggtggagacctggtgcagcgtgcggcccacagtcatcctcagggacaccgccatccgctcggacggcccccatcccggccgccgccttgactctgcgctctctgagtctcccaagacggctttgctgctggccctcagccgaccccggccccccatcacgcgctcccagagctatctgaccttgtgggaggagaagcagcagcggaagaaggagaagtcggggtcccctggggagaagggtgccctgcagcgctccaagacgctgatgaacctcttcttcaagggagggcggcaggggaggctagcgcgggacgggcgcagagaggcctggacactggacagcgggagcctggccaaaacttaccctcgcctggacatagagaaagggggcgtgggcccggtacagaagtttgtcacctggagactgagacgtgaccaggagaggggccgggccctgctgtctgccaggtctgggagtccctccagccagctgcctaatgtggatgagcaggttcaggcctgggagagccggcggcccctcattcaggacctggcccagaggctgctgactgatgacgaggtgctggctgtcacccgccactgctcccggtatgtgcacgagggaggcatagaggacctggtgaggcccctgctggccatcctcgacaggccggagaagctgctactgctgcaggacatcaggagtgtggtggcccccacagacctgggccgcttcgacagcatggtgatgcttgtggagctggaggcttttgaggccctcaagagcagggcagtccggcctcctgctttgagaccagcccggcaggacacgccacccaagcgtcaccttatcacccccgtgcctgacagccgcggaggcttctacctgctgccggtgaacggcttcccggaagaggaagataatggggagctgagggagcggctgggggccctcaaggtctccccaagtgcctctgcccctcgccacccccataaagggatcccccctctacaagacgtgccagtagatgccttcacccccctccgaattgcctgcacaccccctccccagctaccccccgtggctccccggcccctgcggcctaactggctgctgacagaacccctgagccgagagcaccctccgcagagccagatccggggccgggctcagagccgtagccgcagccgtagccgcagccgcagccgcagcagccggggtcaaggcaagtctccaggtagacgctccccatccccggtgcctacccctgcccccagcatgaccaatgggcgctaccacaagcctcggaaggccagaccccctctgccacgacctctggatggggaggcagccaaggtgggggccaagcaagggccctcggagagtggaactgaggggacggccaaggaggcagccatgaagaaccccagtggcgagctgaagacagtgacactgtccaagatgaagcagtccttaggtatcagcatttctgggggcattgagtccaaggtgcagcccatggtgaagatagagaagatcttccctgggggggccgctttcctcagtggggccctgcaggctggcttcgagcttgtggcagtggacggagagaatctagagcaggtgacccaccagcgtgcagtagacaccatccgtcgggcttatcgaaacaaggcccgggagcccatggagcttgtggtcagggtccccgggcccagcccacggccctcaccctctgactcatcagcccttactgatgggggccttcctgctgaccacttgcctgcccaccaaccccttgatgctgctccagttcctgcccactggctcccagaacctcccaccaatccccagactcctcccactgatgccaggctcctccagccaactcccagcccagccccctccccagccctccagactcctgattctaagcccgcaccctccccacgcatcccatgaccctccccctaacctcagattcacccactgactccagcatcccgttatccccaggacctctcctaccaacttcttcaggactctccagctcctgcccaccctgcctcctcccagtgccacactggtggctcacatctttccactttcttccctcctcagctgtcattaaggctctgccttagtgtccaaggacaaggtgctagtgggcagcctgtgtcacctgcactcactgctccccaacctcccaagccaggatagggggtgagaaagccaaggtctggagcttgggattggtgggcactttctcacatgctgtcccttatgagtcgcccaagcctccagggacacagactctcagacagggccctgaaggggtcaatgcatccattcctcaaccccaagcagcattctgtgcaaggaaacggatgaaaggcttttctagtccctgaaatcctgagagatcatttcacgttggggtccactaagacctcagacattctactggatttgtccttcctccatcaccttttctccccaagagagctctatgagggggaggagaatagccagcaaatggtgggggggggggggtcaaacaagttcctgtactctttatccagcacattcacattatttttaaacaaaaaaattttttttaattttttctttgggtttgtacaagaaatttacagtgtgaaaaatatacaagtgaaaacgaggccataaacctgggtgaagggagaggctgcttggtcacaaacacaaataaacaagacatttctgagttc
//
by
@meso_cacase at
DBCLS
This page is licensed under a
Creative Commons Attribution 4.0 International License (CC BY 4.0).
If you use GGRNA in your work, please cite:
Naito Y, Bono H. (2012)
GGRNA: an ultrafast, transcript-oriented search engine for genes and transcripts.
Nucleic Acids Res., 40, W592-W596.
[Full Text]