| ZFIN ID: ZDB-GENE-100624-3 |
| Gene Name: | PDZ domain containing 7b | |||||||||||||
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| Gene Symbol: | pdzd7b Nomenclature History |
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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 |
|---|---|---|---|---|---|
| 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 |
|---|---|---|---|
| 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 |
|---|---|---|---|
| RNA | RefSeq:XM_009300706 (1) |
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| Polypeptide | UniProtKB:D6BNB0 (1) | 777 aa |
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| Sequence Clusters | UniGene:121518 (1) |
