WormBase Tree Display for Disease_model_annotation: WBDOannot00000512
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| WBDOannot00000512 | Disease_term | DOID:898 | |||
|---|---|---|---|---|---|
| Disease_of_species | Homo sapiens | ||||
| Modeled_by | Variation | WBVar00249016 | |||
| Asserted_gene | WBGene00003058 | ||||
| Association_type | is_implicated_in | ||||
| Evidence_code | GO_code | IMP | |||
| ECO_term | ECO:0007013 | ||||
| Genetic_sex | male | ||||
| Paper_evidence | WBPaper00003680 | ||||
| Disease_model_description | lov-1 and pkd-2 encode the orthologs of human Polycystin-1 and Polycystin-2, which are mutated in autosomal dominant polycystic kidney disease; the polycystins regulate signaling involved in normal renal tubular structure and function; studies in the worm C. elegans have contributed extensively to the finding that cystic kidney diseases can be considered ciliopathies; in elegans lov-1 and pkd-2 are expressed in male ciliary neurons, are required for normal male mating behavior, do not seem to be required for ciliogenesis, and each polycystin may actually have a potential inhibitory function on the other for ciliary function; lov-1 and pkd-1 interact with a single-pass transmembrane protein, CWP-5, though the significance of this interaction for polycystic kidney disease is unknown. | ||||
| DB_info | Database | OMIM | disease | OMIM:173900 | |
| Curator_confirmed | WBPerson324 | ||||
| Date_last_updated | 31 Jan 2013 00:00:00 |
