Gene
gucy2f
- ID
- ZDB-GENE-011128-7
- Name
- guanylate cyclase 2F, retinal
- Symbol
- gucy2f Nomenclature History
- Previous Names
-
- gc1
- RETGC-1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Enables guanylate cyclase activity. Acts upstream of or within photoreceptor cell outer segment organization and visual perception. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in olfactory epithelium; olfactory receptor cell; retina; and retinal outer nuclear layer. Used to study Leber congenital amaurosis. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 1; choroidal sclerosis; cone-rod dystrophy 6; congenital stationary night blindness; and retinitis pigmentosa. Orthologous to human GUCY2D (guanylate cyclase 2D, retinal).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Stiebel-Kalish et al., 2012
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-gucy2f | N/A | Stiebel-Kalish et al., 2012 |
| MO2-gucy2f | N/A | Stiebel-Kalish et al., 2012 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| choroidal sclerosis | Alliance | ?Choroidal dystrophy, central areolar 1 | 215500 |
| cone-rod dystrophy 6 | Alliance | Cone-rod dystrophy 6 | 601777 |
| Leber congenital amaurosis 1 | Alliance | Leber congenital amaurosis 1 | 204000 |
| Night blindness, congenital stationary, type 1I | 618555 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Leber congenital amaurosis | WT + MO2-gucy2f | standard conditions | Stiebel-Kalish et al., 2012 |
| Leber congenital amaurosis | WT + MO1-gucy2f | standard conditions | Stiebel-Kalish et al., 2012 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018297 | Adenylyl cyclase class-4/guanylyl cyclase, conserved site |
| Domain | IPR000719 | Protein kinase domain |
| Domain | IPR001054 | Adenylyl cyclase class-3/4/guanylyl cyclase |
| Domain | IPR001245 | Serine-threonine/tyrosine-protein kinase, catalytic domain |
| Domain | IPR001828 | Receptor, ligand binding region |
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Domain Details Per Protein
| Protein | Length | Adenylyl cyclase class-3/4/guanylyl cyclase | Adenylyl cyclase class-4/guanylyl cyclase, conserved site | Cyclic nucleotide synthase | Haem NO binding associated | Nucleotide cyclase | Periplasmic binding protein-like I | Protein kinase domain | Protein kinase-like domain superfamily | Receptor, ligand binding region | Serine-threonine/tyrosine-protein kinase, catalytic domain |
|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M3APR2
|
1103 | ||||||||||
|
UniProtKB:B3DHF2
|
1107 | ||||||||||
|
UniProtKB:F1QWF7
|
1103 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
gucy2f-201
(1)
|
Ensembl | 6,241 nt | ||
| mRNA |
gucy2f-202
(1)
|
Ensembl | 4,614 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-52L18 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:194231 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:194253 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_131864 (1) | 3324 nt | ||
| Genomic | GenBank:BX537138 (1) | 144274 nt | ||
| Polypeptide | UniProtKB:B3DHF2 (1) | 1107 aa |
- Cudia, D.L., Ahoulou, E.O., Bej, A., Janssen, A.N., Scholten, A., Koch, K.W., Ames, J.B. (2024) NMR Structure of Retinal Guanylate Cyclase Activating Protein 5 (GCAP5) with R22A Mutation That Abolishes Dimerization and Enhances Cyclase Activation. Biochemistry. 63(10):1246-1256
- Sun, C., Galicia, C., Stenkamp, D.L. (2018) Transcripts within rod photoreceptors of the Zebrafish retina. BMC Genomics. 19:127
- Gao, D., Wang, C., Xi, Z., Zhou, Y., Wang, Y., Zuo, Z. (2017) Early-Life Benzo[a]Pyrene Exposure Causes Neurodegenerative Syndromes in Adult Zebrafish (Danio rerio) and the Mechanism Involved. Toxicological sciences : an official journal of the Society of Toxicology. 157(1):74-84
- Zhao, Y., Fent, K. (2016) Progestins alter photo-transduction cascade and circadian rhythm network in eyes of zebrafish (Danio rerio). Scientific Reports. 6:21559
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Saraiva, L.R., Ahuja, G., Ivandic, I., Syed, A.S., Marioni, J.C., Korsching, S.I., Logan, D.W. (2015) Molecular and neuronal homology between the olfactory systems of zebrafish and mouse. Scientific Reports. 5:11487
- Stiebel-Kalish, H., Reich, E., Rainy, N., Vatine, G., Nisgav, Y., Tovar, A., Gothilf, Y., and Bach, M. (2012) Gucy2f zebrafish knockdown – a model for Gucy2d-related leber congenital amaurosis. European journal of human genetics : EJHG. 20(8):884-889
- Morris, A.C., Forbes-Osborne, M.A., Pillai, L.S., and Fadool, J.M. (2011) Microarray Analysis of XOPS-mCFP Zebrafish Retina Identifies Genes Associated with Rod Photoreceptor Degeneration and Regeneration. Investigative ophthalmology & visual science. 52(5):2255-2266
- Maddison, L.A., Lu, J., Victoroff, T., Scott, E., Baier, H., and Chen, W. (2009) A gain-of-function screen in zebrafish identifies a guanylate cyclase with a role in neuronal degeneration. Molecular genetics and genomics : MGG. 281(5):551-563
- Rätscho, N., Scholten, A., and Koch, K.W. (2009) Expression profiles of three novel sensory guanylate cyclases and guanylate cyclase-activating proteins in the zebrafish retina. Biochimica et biophysica acta. Molecular cell research. 1793(6):1110-1114
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