Identity
HGNC
LOCATION
4p16.3
LOCUSID
ALIAS
CSNB3,CSNBAD2,GMP-PDEbeta,PDEB,RP40,rd1
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: 5158
MIM: 180072
HGNC: 8786
Ensembl: ENSG00000133256
Variants:
dbSNP: 5158
ClinVar: 5158
TCGA: ENSG00000133256
COSMIC: PDE6B
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36959549 | 2023 | A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family. | 1 |
| 37094557 | 2023 | A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing. | 0 |
| 36959549 | 2023 | A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family. | 1 |
| 37094557 | 2023 | A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing. | 0 |
| 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 |
| 36376065 | 2022 | Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration. | 0 |
| 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 |
| 36376065 | 2022 | Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration. | 0 |
| 33633436 | 2021 | Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes. | 1 |
| 33673512 | 2021 | Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa. | 7 |
| 34584050 | 2021 | PDE6B Mutation-associated Inherited Retinal Disease. | 1 |
| 33633436 | 2021 | Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes. | 1 |
| 33673512 | 2021 | Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa. | 7 |
Citation
Dessen P
PDE6B (phosphodiesterase 6B)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/71795/pde6b-(phosphodiesterase-6b)
