USH2A

usherin

Ensembl:
ENSG00000042781
UniProt:
O75445
OMIM:
608400
Synonyms:
RP39, USH2

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

Subcellular localization

basal body

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 mainte nce of reti l 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, mainte nce and/or function, to the apical inner segment and basal body of photoreceptor. Mutations are associated withnon- syndromic retinitis pigmentosa and Usher syndrome (23351521).

Model organism evidence

Mus musculus (1 reference)

Additionally, we investigated the pathogenic mechanisms of USH2A variants and the therapeutic effects of exon skipping on photoreceptor cilia structure and function.

PMIDs: 40970667