ZFIN ID: ZDB-GENE-100624-3 |
Gene Name: | PDZ domain containing 7b | ||||||
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Gene Symbol: | pdzd7b Nomenclature History | ||||||
Previous Name: | |||||||
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Gene Type: | protein_coding_gene | ||||||
Location: | Chr: 12 Mapping Details/Browsers | ||||||
Description: | Human ortholog(s) of this gene implicated in Usher syndrome type 2A; Usher syndrome type 2C; and autosomal recessive nonsyndromic deafness. Is expressed in hair cell anterior macula and retina. Orthologous to human PDZD7 (PDZ domain containing 7). | ||||||
Genome Resources: | Alliance (1), Gene:100331399 (1) |
All Expression Data: | Fig. 4 from Ebermann et al., 2010 |
Wild-type Stages, Structures: | Larval:Day 5 (120.0h-144.0h, 3.9mm, 6 teeth) to Larval:Day 5 (120.0h-144.0h, 3.9mm, 6 teeth) |
Allele | Type | Localization | Consequence | Mutagen | Suppliers |
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sa24924 | Point Mutation | Unknown | Premature Stop | ENU | |
sa42097 | Point Mutation | Unknown | Premature Stop | ENU |
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Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
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Usher syndrome type 2A | Alliance | {Retinal disease in Usher syndrome type IIA, modifier of} | 276901 |
Usher syndrome type 2C | Alliance | Usher syndrome, type IIC, GPR98/PDZD7 digenic | 605472 |
Deafness, autosomal recessive 57 | 618003 |
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Type | Accession # | Length (bp/aa) | Analysis |
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RNA | RefSeq:XM_009300706 (1) |
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Polypeptide | UniProtKB:D6BNB0 (1) | 777 aa |
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Sequence Clusters | UniGene:121518 (1) |