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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GUCA1B
guanylate cyclase activator 1B
Chromosome 6 · 6p21.1
NCBI Gene: 2979Ensembl: ENSG00000112599.9HGNC: HGNC:4679UniProt: Q9UMX6
24PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cone photoreceptor outer segmentphotoreceptor inner segmentprotein bindingciliumretinitis pigmentosaautosomal dominant retinitis pigmentosaeye diseaseRetinal dystrophy
✦AI Summary

GUCA1B encodes guanylate cyclase-activating protein 2 (GCAP2), a calcium-sensitive regulator of retinal guanylate cyclases. The protein stimulates guanylate cyclases GUCY2D and GUCY2F when intracellular calcium is low and inhibits them when calcium rises, a critical mechanism for recovering photoreceptor sensitivity following light exposure 1. This calcium-dependent modulation occurs through calcium binding to EF-hand domains within GCAP2 2. GUCA1B mutations cause autosomal dominant retinal dystrophies with variable phenotypic expression. A G157R mutation identified in Japanese populations associates with retinitis pigmentosa, macular degeneration, and incomplete penetrance 2, while a p.Glu155Asp variant affects the EF-hand 4 calcium-binding site 3. However, GUCA1B mutations appear to be a minor cause of retinal disease in European and North American populations 3. GUCA1B was identified as a hub gene in diabetic retinopathy pathogenesis 4 and a genetic risk factor for age-related macular degeneration with pigment epithelial detachment 5. The gene is transcriptionally regulated by Mef2d in photoreceptor cells 6, and its expression is essential for normal retinal function.

Sources cited
1
GUCA1B encodes GCAP2 which regulates guanylate cyclase activity in response to calcium changes during photoreceptor light recovery
PMID: 19941038
2
G157R mutation in GUCA1B causes autosomal dominant retinitis pigmentosa with variable penetrance and phenotypic expression in Japanese populations
PMID: 15452722
3
GUCA1B mutations including p.Glu155Asp in EF-hand 4 are rare in cone dystrophy/cone-rod dystrophy patients from European and North American populations
PMID: 21405999
4
GUCA1B identified as hub gene potentially involved in diabetic retinopathy pathogenesis through visual perception and photoreceptor pathways
PMID: 37318461
5
GUCA1B non-coding variant rs74600252 associated with increased risk of pigment epithelial detachment in age-related macular degeneration
PMID: 37761846
6
Mef2d transcription factor regulates GUCA1B expression in photoreceptor and bipolar cells for normal retinal function
PMID: 25757744
Disease Associationsⓘ21
retinitis pigmentosaOpen Targets
0.63Moderate
autosomal dominant retinitis pigmentosaOpen Targets
0.40Moderate
eye diseaseOpen Targets
0.37Weak
Retinal dystrophyOpen Targets
0.18Weak
Leber congenital amaurosisOpen Targets
0.11Weak
phototoxic dermatitisOpen Targets
0.08Suggestive
metabolic syndromeOpen Targets
0.07Suggestive
non-small cell lung carcinomaOpen Targets
0.04Suggestive
generalized dystoniaOpen Targets
0.03Suggestive
Lower limb asymmetryOpen Targets
0.03Suggestive
metabolic syndrome XOpen Targets
0.03Suggestive
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.02Suggestive
retinal degenerationOpen Targets
0.02Suggestive
BlindnessOpen Targets
0.01Suggestive
cone dystrophyOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
retinitis pigmentosa 1Open Targets
0.01Suggestive
esophageal adenocarcinomaOpen Targets
0.01Suggestive
respiratory distress syndrome in premature infantsOpen Targets
0.01Suggestive
Cone rod dystrophyOpen Targets
0.00Suggestive
Retinitis pigmentosa 48UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CNGB1Protein interaction94%CNGA1Protein interaction94%RHOProtein interaction94%RPE65Protein interaction88%EYSProtein interaction86%PCAREProtein interaction84%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
64%
Liver
62%
Brain
56%
Heart
44%
Lung
42%
Gene Interaction Network
Click a node to explore
GUCA1BCNGB1CNGA1RHORPE65EYSPCARE
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9UMX6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.25LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.81 [0.54–1.25]
RankingsWhere GUCA1B stands among ~20K protein-coding genes
  • #13,200of 20,598
    Most Researched24
  • #13,164of 17,882
    Most Constrained (LOEUF)1.25
Genes detectedGUCA1B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PMID: 20301590
1.00
2
Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy.
PMID: 21405999
Ophthalmic Genet · 2011
0.90
3
Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies.
PMID: 15452722
Graefes Arch Clin Exp Ophthalmol · 2005
0.80
4
Identification of hub genes correlated with diabetic retinopathy via bioinformatics methods.
PMID: 37318461
Eur Rev Med Pharmacol Sci · 2023
0.70
5
The uroguanylin gene (Guca1b) is linked to guanylin (Guca2) on mouse chromosome 4.
PMID: 9344659
Genomics · 1997
0.60