GUCY2D

guanylate cyclase 2D, retinal

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000132518
UniProt:
Q02846
OMIM:
600179
Synonyms:
CORD6, CYGD, GUC1A4, GUC2D, LCA, LCA1, RETGC, RETGC-1, ROS-GC, ROS-GC1

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.43) 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:
Leber congenital amaurosis 1; cone-rod dystrophy 6; Leber congenital amaurosis; cone-rod dystrophy; retinitis pigmentosa

Ciliopathy associations

  • Cone-Rod Dystrophy
  • Leber Congenital Amaurosis
  • Retinal Dystrophy/Degeneration

References: PMID:10647719, PMID:23035049, PMID:37775646, PMID:37361352, PMID:35205358

Subcellular localization

cilia, nucleus

References: PMID:38373798

Functional category

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

Function

CG34357, a Drosophila homologue of Gucy2d, localises to chordoto l cilia and its removal impairs sensory function in adult flies.