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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GUCY2F
guanylate cyclase 2F, retinal
Chromosome X · Xq22.3-q23
NCBI Gene: 2986Ensembl: ENSG00000101890.5HGNC: HGNC:4691UniProt: P51841
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
visual perceptionplasma membranerod photoreceptor outer segmentreceptor guanylyl cyclase signaling pathwayenthesopathygastric carcinomabasal cell carcinomagastric ulcer
✦AI Summary

GUCY2F encodes a retinal guanylate cyclase responsible for cyclic GMP (cGMP) synthesis in photoreceptor rods and cones 1. As a membrane-bound receptor guanylyl cyclase, GUCY2F plays an essential role in phototransduction by mediating cGMP replenishment after light exposure, supporting normal kinetics of photoreceptor sensitivity and recovery 1. While GUCY2F and its paralog GUCY2D (GC-E) are functionally redundant in rods, targeted deletion studies reveal that GUCY2F alone has minimal impact on rod and cone physiology; however, combined deletion of both cyclases produces severe retinal degeneration resembling human Leber congenital amaurosis type 1 (LCA-1), with loss of phototransduction proteins in outer segments 2. GUCY2F may also participate in trafficking of peripheral membrane proteins to the photoreceptor outer segment membrane 2. Unlike GUCY2D, which is mutated in inherited retinal diseases including early-onset LCA and cone-rod dystrophy, disease-associated mutations have not been reported in GUCY2F 1. Somatic mutations in GUCY2F have been identified in breast, lung, and pancreatic cancers, suggesting potential involvement in tumorigenesis 3.

Sources cited
1
GUCY2F and GUCY2D encode two guanylate cyclase isoforms responsible for cGMP replenishment in photoreceptors; GUCY2D but not GUCY2F is associated with disease mutations in inherited retinal dystrophies
PMID: 19941038
2
Targeted deletion of Gucy2f alone has minimal effect on rod and cone physiology, but double knockout with GC-E causes retinal degeneration resembling LCA-1 with loss of phototransduction proteins
PMID: 20012162
3
Somatic mutations in GUCY2F identified in breast, lung, and pancreatic cancers, implicating it in tumorigenesis
PMID: 16941478
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
enthesopathyOpen Targets
0.30Weak
gastric carcinomaOpen Targets
0.17Weak
basal cell carcinomaOpen Targets
0.15Weak
gastric ulcerOpen Targets
0.14Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.02Suggestive
mucous membrane pemphigoidOpen Targets
0.02Suggestive
strokeOpen Targets
0.02Suggestive
influenzaOpen Targets
0.02Suggestive
gingivitisOpen Targets
0.02Suggestive
periodontitisOpen Targets
0.01Suggestive
Increased total eosinophil countOpen Targets
0.01Suggestive
Parkinson diseaseOpen Targets
0.01Suggestive
Respiratory Syncytial Virus InfectionOpen Targets
0.01Suggestive
Leber congenital amaurosisOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
ischemiaOpen Targets
0.01Suggestive
gestational diabetesOpen Targets
0.01Suggestive
chronic periodontitisOpen Targets
0.01Suggestive
geroderma osteodysplasticaOpen Targets
0.01Suggestive
Pallister-Hall syndromeOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GUCA1AProtein interaction98%GUCY2DProtein interaction95%GUCA1CProtein interaction91%ENPP1Protein interaction91%ENPP3Protein interaction91%NUDT2Protein interaction91%
Tissue Expression6 tissues
Lung
100%
Brain
100%
Ovary
0%
Heart
0%
Bone Marrow
0%
Liver
0%
Gene Interaction Network
Click a node to explore
GUCY2FGUCA1AGUCY2DGUCA1CENPP1ENPP3NUDT2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P51841
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.03LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.83 [0.68–1.03]
RankingsWhere GUCY2F stands among ~20K protein-coding genes
  • #16,472of 20,598
    Most Researched12
  • #10,232of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedGUCY2F
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Somatic mutations of GUCY2F, EPHA3, and NTRK3 in human cancers.
PMID: 16941478
Hum Mutat · 2006
1.00
2
Novel functions of photoreceptor guanylate cyclases revealed by targeted deletion.
PMID: 20012162
Mol Cell Biochem · 2010
0.90
3
Guanylate cyclases and associated activator proteins in retinal disease.
PMID: 19941038
Mol Cell Biochem · 2010
0.80
4
Detection of Selection Signatures on the X Chromosome in Three Sheep Breeds.
PMID: 26343642
Int J Mol Sci · 2015
0.70
5
Functional study of two biochemically unusual mutations in
PMID: 27881908
Mol Vis · 2016
0.60