GUCY2F guanylate cyclase 2F, retinal
Gene ID: 2986, updated on 18-Sep-2024Gene type: protein coding
Also known as: CYGF; GC-F; GUC2F; GUC2DL; RETGC-2; ROS-GC2
- See all available tests in GTR for this gene
- Go to complete Gene record for GUCY2F
- Go to Variation Viewer for GUCY2F variants
Summary
The protein encoded by this gene is a guanylyl cyclase found predominantly in photoreceptors in the retina. The encoded protein is thought to be involved in resynthesis of cGMP after light activation of the visual signal transduction cascade, allowing a return to the dark state. This protein is a single-pass type I membrane protein. Defects in this gene may be a cause of X-linked retinitis pigmentosa. [provided by RefSeq, Dec 2008]
Genomic context
- Location:
- Xq22.3-q23
- Sequence:
- Chromosome: X; NC_000023.11 (109372906..109482086, complement)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GUCY2F variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GUCY2F @ LOVD
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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