USH2A

Cilia effects upon perturbation of USH2A

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:

retinitis pigmentosa; cone-rod dystrophy

Ciliopathy associations

• Retinal Dystrophy/Degeneration
• Usher Syndrome

References: PMID:35076463, PMID:35353227, PMID:25404053, PMID:32995707, PMID:39629117, PMID:30531642, PMID:39016003, PMID:40248902, PMID:12786748, PMID:36232969, PMID:10775529, PMID:17296898, PMID:36314366

Subcellular localization

basal body

References: PMID:17360538, PMID:18826961, PMID:23351521, PMID:12588794

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• Signaling (Hedgehog, GPCRs, ion channels)
• Transition zone

Function

MIM: 608400 (10738000) Required for the long-term maintenance of retinal photoreceptors (17360538). Interacts and colocalises with Nlp and lebercilin at the centrosome (18826961). Interacts with SPAG5 and NINL to regulate microtubule-based cytoplasmic trafficking of proteins required for ciliogenesis, maintenance and/or function, to the apical inner segment and basal body of photoreceptor. Mutations are associated withnon- syndromic retinitis pigmentosa and Usher syndrome (23351521).