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FLASH GENE
Symbol GUCY2D contributors: shn/npt/pgu - updated : 21-05-2015
HGNC name guanylate cyclase 2D, membrane (retina-specific)
HGNC id 4689
ASSOCIATED DISORDERS
corresponding disease(s) LCA1 , CORD6 , CORD5
related resource Retinal Information Network
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional somatic mutation     loss of function
complete lose of function of RetGC1 (GUCY2D) in LCA
constitutional somatic mutation   --over gain of function
CORD6 mutations result in failure to inactivate cyclase activity at high physiological Ca2+ concentrations. RetGC1 is constituvely activated by its activators GCAP1 and GCAP2
constitutional germinal mutation      
in LCA2 (acting as a gene modifier)
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
neurosensorialvisualdegenerative
delivery of AAV5 vectors containing murine guanylate cyclase-1 (GC1) cDNA is capable of restoring cone-mediated function and visual behavior and preserving cone photoreceptors in the GC1 knockout (GC1KO) mouse for 3 months
neurosensorialvisualdegenerative
AAV8(Y733F) is the most efficient vector for Cone function restauratioon in guanylate cyclase-1 knockout (GC1KO) mouse which is preserved for at least 11 months after treatment
ANIMAL & CELL MODELS
Gucy2d KO mice develop a cone dystrophy.
  • A 22-kb deletion in the chicken GUCY2D orthologue, GUCY1B leads to a retinal dystrophy in the central retina and proceeds progressively towards the periphery
  • blindness associated with loss of function of retGC1 in the GUCY1*B avian model of LCA1 can be reversed using viral vector-mediated gene transfer (
  • Gucy2f knockdown Zebrafish display significantly lower vision and loss and shortening of cone and rod outer segments leading to early visual dysfunction and photoreceptor layer dystrophy (