RD3

Chr 1q32.3

RD3 regulator of GUCY2D

Aliases:: LCA12
MANE:: ENST00000680073.1

OMIM: 180040 ↗NCBI: 343035 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

RD3 · Q7Z3Z2

v62025-08-01

Predicted Aligned Error matrix for RD3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.0/ 100

Confident

195 residues

Confidence breakdown

Very high(≥ 90)53%
Confident(70–90)13%
Low(50–70)32%
Very low(< 50)2%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

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

Disease associations (Open Targets)

Leber congenital amaurosis 12
0.68
Leber congenital amaurosis
0.64
Retinal dystrophy
0.45
RD3-related retinopathy
0.37
eye disorder
0.37
Abnormality of the eye
0.34
hereditary disease
0.19
dysthymic disorder
0.18
major depressive disorder
0.18
mental disorder
0.16

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

Protein function (UniProt)

Protein RD3

Plays a critical role in the regulation of enzymes involved in nucleotide cycle in photoreceptors (PubMed:21078983, PubMed:21928830, PubMed:27471269, PubMed:29515371, PubMed:30559291). Inhibits the basal catalytic activity and the GCAP-stimulated activity of GUCY2D and GUCY2F, two retinal guanylyl cyclases involved in the production of cGMP in photoreceptors (PubMed:21928830, PubMed:27471269, PubMed:29515371, PubMed:30559291). Involved in the transport of GUCY2D and GUCY2F to their target sites in the photoreceptor outer segment (PubMed:21078983). Up-regulates the activity of GUK1, a kinase that also plays an essential role for recycling GMP and indirectly, cGMP (PubMed:29515371). Plays an important role for the survival of rods and cones in the retina (By similarity)