PDE6D (phosphodiesterase 6D)

2014-11-01  

Identity

HGNC
LOCATION
2q37.1
LOCUSID
ALIAS
JBTS22,PDED
FUSION GENES

Other Information

Locus ID:

NCBI: 5147
MIM: 602676
HGNC: 8788
Ensembl: ENSG00000156973

Variants:

dbSNP: 5147
ClinVar: 5147
TCGA: ENSG00000156973
COSMIC: PDE6D

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000156973ENST00000287600O43924
ENSG00000156973ENST00000287600Q6IB24
ENSG00000156973ENST00000409772B8ZZK5
ENSG00000156973ENST00000428104C9IZ52

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Purine metabolismKEGGhsa00230
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Cargo trafficking to the periciliary membraneREACTOMER-HSA-5620920
ARL13B-mediated ciliary trafficking of INPP5EREACTOMER-HSA-5624958

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
221790432011The GDI-like solubilizing factor PDEδ sustains the spatial organization and signalling of Ras family proteins.100
231505592012ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.87
241668462014A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.48
235590672013The interplay between RPGR, PDEδ and Arl2/3 regulate the ciliary targeting of farnesylated cargo.30
281729802016Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E.9
279117092016Shuttling and sorting lipid-modified cargo into the cilia.4
304234422019A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22).1

Citation

Dessen P

PDE6D (phosphodiesterase 6D)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71797/pde6d