RD3

RD3 regulator of GUCY2D

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000198570
UniProt:
Q7Z3Z2
OMIM:
180040
Synonyms:
C1ORF36, LCA12

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.11) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
abnormal reti outer nuclear layer morphology, abnormal eye posterior chamber depth, abnormal eye anterior chamber depth, decreased total reti thickness, abnormal reti inner nuclear layer morphology, decreased mean corpuscular hemoglobin concentration, increased hematocrit
Human ciliopathy phenotype:
Leber congenital amaurosis

Ciliopathy associations

  • Leber Congenital Amaurosis

References: PMID:37240262, PMID:17186464, PMID:22531706

Subcellular localization

No ciliary localization reported (cilia-associated gene).

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Mutations in the RD3 gene cause Leber Congenital Amaurosis (PMID: 17186464).