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15 records found for search term Pdzd7
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RGD IDSymbolNameDescriptionChrStartStopSpeciesAnnotationsMatchType
1309882Pdzd7PDZ domain containing 7ENCODES a protein that exhibits identical protein binding (ortholog); INVOLVED IN auditory receptor cell development (ortholog); auditory receptor cell stereocilium organization (ortholog); detection of mechanical stimulus involved in sensory perception of sound (ortholog); ASSOCIATED WITH autosomal1253837454253856919Rat89symbol , PhenoGengene, protein-coding, VALIDATED [RefSeq]
1320465PDZD7PDZ domain containing 7This 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.10101007679101031129Human204symbol , COSMIC , Human Proteome Mapgene, protein-coding, REVIEWED [RefSeq]
1618186Pdzd7PDZ domain containing 7Enables identical protein binding activity. Acts upstream of or within several processes, including auditory receptor cell stereocilium organization; detection of mechanical stimulus involved in sensory perception of sound; and establishment of protein localization. Located in stereocilia ankle link194501534645048273Mouse106symbol , PhenoGen , descriptiongene, protein-coding, VALIDATED [RefSeq]
8949240Pdzd7PDZ domain containing 7ENCODES a protein that exhibits identical protein binding (ortholog); INVOLVED IN auditory receptor cell development (ortholog); auditory receptor cell stereocilium organization (ortholog); detection of mechanical stimulus involved in sensory perception of sound (ortholog); ASSOCIATED WITH autosomalNW_00495548591667219183129Chinchilla33symbolgene, protein-coding, MODEL [RefSeq]
12039353PDZD7PDZ domain containing 7ENCODES a protein that exhibits identical protein binding (inferred); INVOLVED IN auditory receptor cell development (ortholog); auditory receptor cell stereocilium organization (ortholog); detection of mechanical stimulus involved in sensory perception of sound (ortholog); ASSOCIATED WITH autosomal109760896997632508Bonobo45symbolgene, protein-coding, MODEL [RefSeq]
12195868PDZD7PDZ domain containing 7ENCODES a protein that exhibits identical protein binding (inferred); INVOLVED IN auditory receptor cell development (ortholog); auditory receptor cell stereocilium organization (ortholog); detection of mechanical stimulus involved in sensory perception of sound (ortholog); ASSOCIATED WITH autosomal281369303213711654Dog45symbolgene, protein-coding, MODEL [RefSeq]
12550347Pdzd7PDZ domain containing 7ENCODES a protein that exhibits identical protein binding (inferred); INVOLVED IN auditory receptor cell development (ortholog); auditory receptor cell stereocilium organization (ortholog); detection of mechanical stimulus involved in sensory perception of sound (ortholog); ASSOCIATED WITH autosomalNW_00493660046602114678911Squirrel44symbolgene, protein-coding, MODEL [RefSeq]
14135921PDZD7PDZ domain containing 7ENCODES a protein that exhibits identical protein binding (ortholog); INVOLVED IN auditory receptor cell development (ortholog); auditory receptor cell stereocilium organization (ortholog); detection of mechanical stimulus involved in sensory perception of sound (ortholog); ASSOCIATED WITH autosomalPig36symbolgene, protein-coding, MODEL [RefSeq]
155242454pdzd7Tropical Clawed Frogsymbolgene, null
626057924Pdzd7PDZ domain containing 7ENCODES a protein that exhibits identical protein binding (ortholog); INVOLVED IN auditory receptor cell development (ortholog); auditory receptor cell stereocilium organization (ortholog); detection of mechanical stimulus involved in sensory perception of sound (ortholog); ASSOCIATED WITH autosomalBlack Rat33symbolgene, protein-coding, MODEL [RefSeq]
18361036PDZD7PDZ domain containing 7ENCODES a protein that exhibits identical protein binding (ortholog); INVOLVED IN auditory receptor cell development (ortholog); auditory receptor cell stereocilium organization (ortholog); detection of mechanical stimulus involved in sensory perception of sound (ortholog); ASSOCIATED WITH autosomalGreen Monkey38symbolgene, protein-coding, MODEL [RefSeq]
18913146Pdzd7PDZ domain containing 7ENCODES a protein that exhibits identical protein binding (ortholog); INVOLVED IN auditory receptor cell development (ortholog); auditory receptor cell stereocilium organization (ortholog); detection of mechanical stimulus involved in sensory perception of sound (ortholog); ASSOCIATED WITH autosomalNaked Mole-Rat41symbolgene, protein-coding, MODEL [RefSeq]
155242455pdzd7.LAfrican Clawed Frogsymbolgene, null
1604645USH1CUSH1 protein network component harmoninThis gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-sy111749390017544416Human434old_gene_symbolgene, protein-coding, REVIEWED [RefSeq]
1349509WHRNwhirlinThis gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative sp9114402080114505473Human295old_gene_symbolgene, protein-coding, REVIEWED [RefSeq]