RCVRN (Recoverin)
Calcium-binding protein in retinal photoreceptors
Gene Information Card
| Symbol | RCVRN |
|---|---|
| Full Name | Recoverin |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 5957 ncbi.nlm.nih.gov/gene/5957 |
| Ensembl ID | ENSG00000109099 |
| UniProt ID | P35243 |
| OMIM ID | 179618 |
| HGNC ID | 9940 |
| Aliases | RCV1, recoverin |
Description
The RCVRN gene encodes recoverin, a calcium-binding protein predominantly expressed in retinal photoreceptor cells. Recoverin regulates rhodopsin phosphorylation in a calcium-dependent manner, playing a key role in light adaptation. Mutations or autoantibodies against recoverin are associated with retinal degeneration and cancer-associated retinopathy (CAR).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer-associated retinopathy (CAR) | Autoantibodies against recoverin cross-react with retinal photoreceptors, leading to apoptosis and vision loss. | ClinVar, OMIM |
| Retinitis pigmentosa (rare association) | Missense mutations in RCVRN may disrupt calcium binding and photoreceptor function. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 47.2 | High |
| Brain (cerebellum) | 0.8 | Low |
| Testis | 0.5 | Low |
| Heart | 0.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 0.1 | Minimal expression |
| Y79 (retinoblastoma) | 12.5 | Moderate expression |
| HEK293 | 0.0 | No detectable expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.227G>A (p.Arg76Gln) | Missense | <0.01% | Altered calcium binding; potential loss of function |
| c.364C>T (p.Arg122Trp) | Missense | <0.01% | Reduced affinity for rhodopsin kinase |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg76Gln) impair calcium binding and disrupt recoverin's regulatory role in phototransduction.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Phototransduction cascade (Reactome: R-HSA-2188538)
• Visual signal transduction (KEGG: hsa04744)
Protein Summary
Recoverin is a 23 kDa calcium-binding protein (200 amino acids) belonging to the neuronal calcium sensor (NCS) family. It contains four EF-hand motifs, two of which bind calcium. In dark-adapted photoreceptors, recoverin binds calcium and inhibits rhodopsin kinase (GRK1), prolonging phototransduction. Upon light exposure, calcium levels drop, recoverin releases calcium, and rhodopsin kinase is activated to phosphorylate and desensitize rhodopsin. Autoantibodies against recoverin are pathogenic in cancer-associated retinopathy, leading to photoreceptor apoptosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RCVRN Knockout HEK293 Cell Line | EDJ-KQ2639 | Human | 5957 | Details Get a Quote |
| RCVRN Knockout HeLa Cell Line | EDJ-KQ54304 | Human | 5957 | Details Get a Quote |
| RCVRN Knockout A-549 Cell Line | EDJ-KQ62798 | Human | 5957 | Details Get a Quote |
| RCVRN Knockout HCT 116 Cell Line | EDJ-KQ71264 | Human | 5957 | Details Get a Quote |
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