Identity
HGNC
LOCATION
5q32
LOCUSID
ALIAS
CGPR-A,PDEA,RP43
FUSION GENES
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: 5145
MIM: 180071
HGNC: 8785
Ensembl: ENSG00000132915
Variants:
dbSNP: 5145
ClinVar: 5145
TCGA: ENSG00000132915
COSMIC: PDE6A
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000132915 | ENST00000255266 | P16499 |
| ENSG00000132915 | ENST00000613228 | F1T0K3 |
| ENSG00000132915 | ENST00000617647 | F1T0K3 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34170501 | 2022 | Photoreceptor Phosphodiesterase (PDE6): Structure, Regulatory Mechanisms, and Implications for Treatment of Retinal Diseases. | 8 |
| 35033039 | 2022 | Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families. | 3 |
| 35533076 | 2022 | Central Visual Function and Genotype-Phenotype Correlations in PDE6A-Associated Retinitis Pigmentosa. | 2 |
| 34170501 | 2022 | Photoreceptor Phosphodiesterase (PDE6): Structure, Regulatory Mechanisms, and Implications for Treatment of Retinal Diseases. | 8 |
| 35033039 | 2022 | Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families. | 3 |
| 35533076 | 2022 | Central Visual Function and Genotype-Phenotype Correlations in PDE6A-Associated Retinitis Pigmentosa. | 2 |
| 33057649 | 2020 | Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial. | 7 |
| 33057649 | 2020 | Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial. | 7 |
| 30998820 | 2019 | Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B. | 17 |
| 30998820 | 2019 | Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B. | 17 |
| 29693493 | 2018 | Targeted next-generation sequencing reveals that a compound heterozygous mutation in phosphodiesterase 6a gene leads to retinitis pigmentosa in a Chinese family. | 2 |
| 30153077 | 2018 | Structural disease progression in PDE6-associated autosomal recessive retinitis pigmentosa. | 12 |
| 30289068 | 2018 | Co-Existence of Novel PDE6A Mutations and A Recurrent RPGR Mutation: A Potential Explanation for Phenotypic Diversity in Female RPGR Mutation Carriers. | 0 |
| 29693493 | 2018 | Targeted next-generation sequencing reveals that a compound heterozygous mutation in phosphodiesterase 6a gene leads to retinitis pigmentosa in a Chinese family. | 2 |
| 30153077 | 2018 | Structural disease progression in PDE6-associated autosomal recessive retinitis pigmentosa. | 12 |
Citation
Dessen P
PDE6A (phosphodiesterase 6A)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/71794/
