HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RD3
RD3 regulator of GUCY2D
Chromosome 1 Β· 1q32.3
NCBI Gene: 343035Ensembl: ENSG00000198570.8HGNC: HGNC:19689UniProt: Q7Z3Z2
26PubMed Papers
21Diseases
0Drugs
14Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingprotein transportnegative regulation of guanylate cyclase activitynucleusLeber congenital amaurosis 12Leber congenital amaurosisRetinal dystrophyRD3-related retinopathy
✦AI Summary

RD3 is a 23 kDa protein that plays a critical role in photoreceptor function by regulating retinal guanylyl cyclases and supporting photoreceptor survival 1. The protein serves as a negative regulator of GUCY2D and GUCY2F, inhibiting both their basal catalytic activity and GCAP-stimulated activity in the cGMP production pathway 2. Beyond enzymatic regulation, RD3 is essential for the cellular trafficking of guanylyl cyclases, facilitating their translocation from the endoplasmic reticulum to photoreceptor outer segments where they function in phototransduction 1. Mutations in RD3 cause Leber congenital amaurosis type 12 (LCA12), a severe early-onset retinal degenerative disease characterized by photoreceptor cell death and vision loss 13. Gene therapy studies in rd3 mouse models have demonstrated that RD3 restoration can rescue guanylyl cyclase localization and restore both rod and cone photoreceptor function, providing proof-of-concept for potential therapeutic interventions 1. While primarily studied in retinal contexts, RD3 shows broader tissue expression patterns and may have additional cellular functions beyond photoreceptor biology 4.

Sources cited
1
RD3 is a 23 kDa protein essential for guanylyl cyclase trafficking and photoreceptor survival, with mutations causing LCA12
PMID: 23740938
2
RD3 functions as a negative regulator of retinal membrane guanylyl cyclase activity
PMID: 33537894
3
RD3 mutations cause Leber congenital amaurosis type 12, an autosomal recessive retinal disease
PMID: 40188639
4
RD3 shows tissue-specific expression patterns beyond retinal tissue
PMID: 29030614
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
Leber congenital amaurosis 12Open Targets
0.68Moderate
Leber congenital amaurosisOpen Targets
0.58Moderate
Retinal dystrophyOpen Targets
0.45Moderate
eye diseaseOpen Targets
0.37Weak
RD3-related retinopathyOpen Targets
0.37Weak
Abnormality of the eyeOpen Targets
0.34Weak
dysthymic disorderOpen Targets
0.27Weak
major depressive disorderOpen Targets
0.27Weak
mental or behavioural disorderOpen Targets
0.25Weak
genetic disorderOpen Targets
0.19Weak
diabetes mellitusOpen Targets
0.10Weak
neoplasmOpen Targets
0.09Suggestive
neuroblastomaOpen Targets
0.08Suggestive
Nijmegen breakage syndromeOpen Targets
0.08Suggestive
X-linked retinal dysplasiaOpen Targets
0.07Suggestive
Alzheimer diseaseOpen Targets
0.07Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.06Suggestive
intelligenceOpen Targets
0.06Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.06Suggestive
retinitis pigmentosaOpen Targets
0.06Suggestive
Leber congenital amaurosis 12UniProt
Pathogenic Variants14
NM_001164688.2(RD3):c.112C>T (p.Arg38Ter)Pathogenic
Leber congenital amaurosis 12|Abnormality of the eye|RD3-related disorder|Retinal dystrophy
β˜…β˜…β˜†β˜†2026β†’ Residue 38
NM_001164688.2(RD3):c.180C>A (p.Tyr60Ter)Pathogenic
Leber congenital amaurosis 12|not provided|Leber congenital amaurosis
β˜…β˜…β˜†β˜†2024β†’ Residue 60
NM_001164688.2(RD3):c.13_14del (p.Ser5fs)Pathogenic
Leber congenital amaurosis 12|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 5
NM_001164688.2(RD3):c.296+1G>TPathogenic
Leber congenital amaurosis 12
β˜…β˜†β˜†β˜†2026
NM_001164688.2(RD3):c.80_102del (p.Glu27fs)Pathogenic
Leber congenital amaurosis 12
β˜…β˜†β˜†β˜†2025β†’ Residue 27
NM_001164688.2(RD3):c.265del (p.His89fs)Likely pathogenic
Leber congenital amaurosis 12
β˜…β˜†β˜†β˜†2024β†’ Residue 89
NM_001164688.2(RD3):c.296+641_*606delPathogenic
Leber congenital amaurosis 12
β˜…β˜†β˜†β˜†2023
NM_001164688.2(RD3):c.394G>T (p.Glu132Ter)Likely pathogenic
Leber congenital amaurosis 12
β˜…β˜†β˜†β˜†2023β†’ Residue 132
NM_001164688.2(RD3):c.38del (p.Pro13fs)Pathogenic
Leber congenital amaurosis 12
β˜…β˜†β˜†β˜†2022β†’ Residue 13
NM_001164688.2(RD3):c.238C>T (p.Gln80Ter)Pathogenic
Leber congenital amaurosis 12
β˜…β˜†β˜†β˜†2022β†’ Residue 80
NM_001164688.2(RD3):c.346del (p.Gln116fs)Pathogenic
Retinal dystrophy
β˜†β˜†β˜†β˜†2023β†’ Residue 116
NM_001164688.2(RD3):c.136G>T (p.Glu46Ter)Pathogenic
Leber congenital amaurosis 12
β˜†β˜†β˜†β˜†2013β†’ Residue 46
NM_001164688.2(RD3):c.137_138del (p.Glu46fs)Pathogenic
Leber congenital amaurosis 12
β˜†β˜†β˜†β˜†2013β†’ Residue 46
NM_001164688.2(RD3):c.296+1G>APathogenic
Leber congenital amaurosis 12
β˜†β˜†β˜†β˜†2006
View on ClinVar β†—
Related Genes
GUCA1AProtein interaction84%GUCY2DProtein interaction84%CRXProtein interaction81%IMPDH1Protein interaction81%PRPH2Protein interaction81%RPE65Protein interaction81%
Tissue Expression6 tissues
Brain
100%
Lung
28%
Bone Marrow
2%
Ovary
2%
Liver
2%
Heart
0%
Gene Interaction Network
Click a node to explore
RD3GUCA1AGUCY2DCRXIMPDH1PRPH2RPE65
PROTEIN STRUCTURE
Preparing viewer…
PDB6DRF Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.12LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.67 [0.42–1.12]
RankingsWhere RD3 stands among ~20K protein-coding genes
  • #12,862of 20,598
    Most Researched26
  • #2,542of 5,498
    Most Pathogenic Variants14
  • #11,476of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedRD3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
An interconnected data infrastructure to support large-scale rare disease research.
PMID: 39302238
Gigascience Β· 2024
1.00
2
RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12.
PMID: 23740938
Hum Mol Genet Β· 2013
0.90
3
Regulation of retinal membrane guanylyl cyclase (RetGC) by negative calcium feedback and RD3 protein.
PMID: 33537894
Pflugers Arch Β· 2021
0.80
4
Retinal Degeneration Protein 3 (RD3) in normal human tissues: Novel insights.
PMID: 29030614
Sci Rep Β· 2017
0.70
5
Activating Transcription Factor 6 Mediates Inflammatory Signals in Intestinal Epithelial Cells Upon Endoplasmic Reticulum Stress.
PMID: 32673694
Gastroenterology Β· 2020
0.60