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: 5147
MIM: 602676
HGNC: 8788
Ensembl: ENSG00000156973
Variants:
dbSNP: 5147
ClinVar: 5147
TCGA: ENSG00000156973
COSMIC: PDE6D
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000156973 | ENST00000287600 | O43924 |
| ENSG00000156973 | ENST00000287600 | Q6IB24 |
| ENSG00000156973 | ENST00000409772 | B8ZZK5 |
| ENSG00000156973 | ENST00000428104 | C9IZ52 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36672247 | 2023 | PDE6D Mediates Trafficking of Prenylated Proteins NIM1K and UBL3 to Primary Cilia. | 1 |
| 36672247 | 2023 | PDE6D Mediates Trafficking of Prenylated Proteins NIM1K and UBL3 to Primary Cilia. | 1 |
| 35422065 | 2022 | Validation of a small molecule inhibitor of PDE6D-RAS interaction with favorable anti-leukemic effects. | 2 |
| 35422065 | 2022 | Validation of a small molecule inhibitor of PDE6D-RAS interaction with favorable anti-leukemic effects. | 2 |
| 30423442 | 2019 | A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22). | 3 |
| 30423442 | 2019 | A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22). | 3 |
| 27911709 | 2016 | Shuttling and sorting lipid-modified cargo into the cilia. | 14 |
| 28172980 | 2016 | Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E. | 21 |
| 27911709 | 2016 | Shuttling and sorting lipid-modified cargo into the cilia. | 14 |
| 28172980 | 2016 | Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E. | 21 |
| 24166846 | 2014 | A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. | 73 |
| 24166846 | 2014 | A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. | 73 |
| 23559067 | 2013 | The interplay between RPGR, PDEδ and Arl2/3 regulate the ciliary targeting of farnesylated cargo. | 42 |
| 23559067 | 2013 | The interplay between RPGR, PDEδ and Arl2/3 regulate the ciliary targeting of farnesylated cargo. | 42 |
| 23150559 | 2012 | ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting. | 134 |
Citation
Dessen P
PDE6D (phosphodiesterase 6D)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/71797/pde6d-(phosphodiesterase-6d)
