GUCY2F (Guanylate Cyclase 2F, Retinal)
Retinal guanylyl cyclase gene involved in phototransduction and inherited retinal dystrophies
Gene Information Card
| Symbol | GUCY2F |
|---|---|
| Full Name | Guanylate cyclase 2F, retinal |
| Gene Type | Protein coding |
| Chromosomal Location | Xq22.3 |
| NCBI Gene ID | 2986 ncbi.nlm.nih.gov/gene/2986 |
| Ensembl ID | ENSG00000101890 |
| UniProt ID | P51841 |
| OMIM ID | 300041 |
| HGNC ID | 4687 |
| Aliases | GUC2F, GUCY2F1, RETGC-2, GC-F, CYGF |
Description
GUCY2F encodes a member of the guanylyl cyclase family, specifically retinal guanylate cyclase 2F (RetGC-2). This enzyme synthesizes cGMP in photoreceptor cells, playing a critical role in phototransduction by regulating cGMP-gated ion channels. Mutations in GUCY2F are associated with cone-rod dystrophy and Leber congenital amaurosis. The gene is located on the X chromosome and is predominantly expressed in the retina.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cone-rod dystrophy, X-linked 3 (CORDX3) | Loss-of-function mutations reduce cGMP synthesis, impairing phototransduction and leading to photoreceptor degeneration | OMIM #300476; ClinVar pathogenic variants |
| Leber congenital amaurosis (LCA) | Biallelic or hemizygous loss-of-function mutations disrupt retinal guanylate cyclase activity, causing severe early-onset retinal dystrophy | OMIM #300041; ClinVar pathogenic variants |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | High (nTPM not available in GTEx; RNA-seq from retinal samples shows high expression) | High |
| Testis | Low | Low |
| Brain | Very low | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | Low | Low expression in RPE cell line |
| Y79 (retinoblastoma) | Moderate | Retinal origin cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2512C>T (p.Arg838Cys) | Missense | Rare | Likely pathogenic; reported in cone-rod dystrophy |
| c.304C>T (p.Arg102*) | Nonsense | Rare | Loss-of-function; associated with LCA |
| c.1483del (p.Val495Cysfs*12) | Frameshift | Rare | Loss-of-function; pathogenic in retinal dystrophy |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and some missense mutations reduce or abolish guanylate cyclase activity, leading to decreased cGMP levels and impaired phototransduction.
Gain of Function (GOF)
No gain-of-function mutations reported for GUCY2F.
Dominant Negative (DN)
No dominant-negative mechanisms described; GUCY2F is X-linked and typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • guanylate cyclase activity (GO:0004383) | • guanylate cyclase complex, soluble (GO:0008074) |
| • signal transduction (GO:0007165) | • visual perception (GO:0007601) |
| • detection of light stimulus (GO:0009583) | • integral component of membrane (GO:0016021) |
Pathways
• Phototransduction cascade (Reactome: R-HSA-2514856)
• cGMP-PKG signaling pathway (KEGG: hsa04022)
Protein Summary
Retinal guanylate cyclase 2F (RetGC-2) is a transmembrane protein of 1103 amino acids (UniProt P51841). It contains an extracellular ligand-binding domain, a single transmembrane helix, and an intracellular guanylyl cyclase catalytic domain. The enzyme converts GTP to cGMP in response to intracellular calcium changes mediated by guanylyl cyclase-activating proteins (GCAPs). RetGC-2 is essential for restoring cGMP levels after light-induced phototransduction, thereby regulating the sensitivity and adaptation of photoreceptor cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GUCY2F Knockout HEK293 Cell Line | EDJ-KQ4819 | Human | 2986 | Details Get a Quote |
| GUCY2F Knockout HeLa Cell Line | EDJ-KQ53463 | Human | 2986 | Details Get a Quote |
| GUCY2F Knockout A-549 Cell Line | EDJ-KQ61935 | Human | 2986 | Details Get a Quote |
| GUCY2F Knockout HCT 116 Cell Line | EDJ-KQ70416 | Human | 2986 | Details Get a Quote |
