GUCY2D

Chr 17p13.1

guanylate cyclase 2D, retinal

Aliases:: retGC, RETGC-1, ROS-GC1, CYGD, LCA1
MANE:: ENST00000254854.5

OMIM: 600179 ↗NCBI: 3000 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

GUCY2D · Q02846

v62025-08-01

Predicted Aligned Error matrix for GUCY2D — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.0/ 100

Confident

1,103 residues

Confidence breakdown

Very high(≥ 90)43%
Confident(70–90)40%
Low(50–70)9%
Very low(< 50)8%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Retinal disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Glaucoma (developmental)
Ophthalmological ciliopathies
Primary ciliary disorders
Rare multisystem ciliopathy disorders
Skeletal dysplasia
Structural eye disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic dystrophies

Disease associations (Open Targets)

Leber congenital amaurosis 1
0.81
cone-rod dystrophy 6
0.77
Leber congenital amaurosis
0.70
Cone rod dystrophy
0.69
GUCY2D-related recessive retinopathy
0.67
choroidal dystrophy, central areolar, 1
0.62
cone-rod dystrophy
0.59
Retinal dystrophy
0.59
retinitis pigmentosa
0.53
hereditary disease
0.47

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Retinal guanylyl cyclase 1

Catalyzes the synthesis of cyclic GMP (cGMP) in rods and cones of photoreceptors. Plays an essential role in phototransduction, by mediating cGMP replenishment (PubMed:15123990, PubMed:21928830, PubMed:26100624, PubMed:30319355, PubMed:9600905). May also participate in the trafficking of membrane-associated proteins to the photoreceptor outer segment membrane (By similarity)