GUCY2D

guanylate cyclase 2D, retinal

4 disorders 2 untyped 2 causative 17p13.1 gene with protein product

HGNC:4689 Monarch NCBI Gene 3000 ENSG00000132518 UniProt Q02846 OMIM 600179

Previous symbols: CORD6, LCA, GUC2D, GUC1A4. Aliases: retGC, RETGC-1, ROS-GC1, CYGD, LCA1, ROS-GC.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Cone Dystrophy	causative germline
Congenital Stationary Night Blindness	causative	mechanism: Rod Phototransduction Cascade Defect (Riggs Arm) subtype: CSNB1I
Central Areolar Choroidal Dystrophy	untyped Causative	scoped to subtype: CACD2
GUCY2D-Related Retinopathy	untyped Causative	mechanism: RETGC-1 Constitutive Hyperactivity; RETGC-1 Deficiency

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
GUCY2D-related dominant retinopathy MONDO:0100441	AD	Definitive 2022-05-28	GUCY2D-Related Retinopathy untyped
GUCY2D-related recessive retinopathy MONDO:0100453	AR	Definitive 2022-03-27	GUCY2D-Related Retinopathy untyped

Mechanism modules · computed from kb/

phototransduction_cascade_dysfunction via Congenital Stationary Night Blindness, GUCY2D-Related Retinopathy

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.