PDE6C Gene: Phosphodiesterase 6C, cGMP-Specific, Cone, Alpha Prime
Essential for cone photoreceptor function in the retina; mutations cause achromatopsia and cone dystrophy.
Gene Information Card
| Symbol | PDE6C |
|---|---|
| Full Name | Phosphodiesterase 6C, cGMP-Specific, Cone, Alpha Prime |
| Gene Type | Protein coding |
| Chromosomal Location | 10q23.33 |
| NCBI Gene ID | 5146 ncbi.nlm.nih.gov/gene/5146 |
| Ensembl ID | ENSG00000138131 |
| UniProt ID | Q13956 |
| OMIM ID | 600827 |
| HGNC ID | 8788 |
| Aliases | Achromatopsia 5, ACHM5, PDEA2, cone cGMP phosphodiesterase alpha prime subunit |
Description
PDE6C encodes the alpha prime subunit of cone photoreceptor cGMP phosphodiesterase (PDE6), a key enzyme in the phototransduction cascade. This enzyme hydrolyzes cGMP in response to light, closing cyclic nucleotide-gated channels and hyperpolarizing the cone cell. Mutations in PDE6C disrupt cone function, leading to inherited retinal diseases such as achromatopsia and progressive cone dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Achromatopsia 5 (ACHM5) | Loss-of-function mutations impair cGMP hydrolysis, causing persistent channel opening and cone degeneration. | ClinVar, OMIM |
| Cone Dystrophy | Defective PDE6C leads to abnormal phototransduction and progressive loss of cone photoreceptors. | ClinVar, OMIM |
| Retinitis Pigmentosa (rare) | Some variants may affect rod-cone function, though primarily cone-specific. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 28.5 | High |
| Testis | 1.2 | Low |
| Brain | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 0.1 | Minimal expression |
| Y79 (retinoblastoma) | 2.5 | Moderate expression |
| HEK293 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1723C>T (p.Arg575Ter) | Nonsense | Rare | Loss of function; truncation of PDE6C protein |
| c.1303G>A (p.Gly435Arg) | Missense | Rare | Impaired catalytic activity; associated with achromatopsia |
| c.2027T>C (p.Leu676Pro) | Missense | Rare | Disrupts protein folding; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most PDE6C mutations are loss-of-function, reducing or abolishing cGMP hydrolysis, leading to cone dysfunction and degeneration.
Gain of Function (GOF)
No gain-of-function mutations reported for PDE6C.
Dominant Negative (DN)
No dominant-negative effects documented; inheritance is typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Phototransduction cascade (KEGG: hsa04744)
• cGMP-PKG signaling pathway (Reactome: R-HSA-418594)
Protein Summary
PDE6C encodes the alpha prime subunit of the cone-specific cGMP phosphodiesterase (PDE6) holoenzyme. This protein is essential for the rapid hydrolysis of cGMP in cone photoreceptors upon light stimulation, enabling visual signal termination. The PDE6C subunit interacts with inhibitory gamma subunits (PDE6G) and is anchored in the photoreceptor outer segment. Defects in PDE6C cause achromatopsia and cone dystrophy due to disrupted phototransduction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDE6C Knockout HEK293 Cell Line | EDJ-KQ4669 | Human | 5146 | Details Get a Quote |
| PDE6C Knockout HeLa Cell Line | EDJ-KQ54102 | Human | 5146 | Details Get a Quote |
| PDE6C Knockout A-549 Cell Line | EDJ-KQ62591 | Human | 5146 | Details Get a Quote |
| PDE6C Knockout HCT 116 Cell Line | EDJ-KQ71063 | Human | 5146 | Details Get a Quote |
