Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5146
MIM: 600827
HGNC: 8787
Ensembl: ENSG00000095464
Variants:
dbSNP: 5146
ClinVar: 5146
TCGA: ENSG00000095464
COSMIC: PDE6C
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000095464 | ENST00000371447 | P51160 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Purine metabolism | KEGG | ko00230 |
| Purine metabolism | KEGG | hsa00230 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38110033 | 2024 | Reconstitution of the phosphodiesterase 6 maturation process important for photoreceptor cell function. | 2 |
| 38956522 | 2024 | Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia. | 0 |
| 38110033 | 2024 | Reconstitution of the phosphodiesterase 6 maturation process important for photoreceptor cell function. | 2 |
| 38956522 | 2024 | Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia. | 0 |
| 35644251 | 2022 | An enhancer located in a Pde6c intron drives transient expression in the cone photoreceptors of developing mouse and human retinas. | 3 |
| 35644251 | 2022 | An enhancer located in a Pde6c intron drives transient expression in the cone photoreceptors of developing mouse and human retinas. | 3 |
| 32306724 | 2020 | Novel Bi-allelic PDE6C Variant Leads to Congenital Achromatopsia. | 1 |
| 32787476 | 2020 | Two novel PDE6C gene mutations in Chinese family with achromatopsia. | 2 |
| 33001157 | 2020 | PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults. | 7 |
| 32306724 | 2020 | Novel Bi-allelic PDE6C Variant Leads to Congenital Achromatopsia. | 1 |
| 32787476 | 2020 | Two novel PDE6C gene mutations in Chinese family with achromatopsia. | 2 |
| 33001157 | 2020 | PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults. | 7 |
| 30289319 | 2018 | Novel causative variants in patients with achromatopsia. | 4 |
| 30289319 | 2018 | Novel causative variants in patients with achromatopsia. | 4 |
| 28583373 | 2017 | Mechanisms of mutant PDE6 proteins underlying retinal diseases. | 25 |
Citation
Dessen P
PDE6C (phosphodiesterase 6C)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/71796/pde6c-(phosphodiesterase-6c)
