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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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PDE6D
phosphodiesterase 6D
Chromosome 2 Β· 2q37.1
NCBI Gene: 5147Ensembl: ENSG00000156973.14HGNC: HGNC:8788UniProt: B8ZZK5
50PubMed Papers
21Diseases
2Drugs
8Pathogenic Variants
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytosolprotein bindingsmall GTPase bindingcytoplasmic vesicleJoubert syndrome with orofaciodigital defectcoronary artery diseasestrokecancer
✦AI Summary

PDE6D is a 17 kDa phosphodiesterase that functions as a guanine nucleotide dissociation inhibitor (GDI) for prenylated proteins, particularly farnesylated and palmitoylated cargo molecules 1. Primary function: PDE6D releases prenylated proteins from cellular membranes and modulates their subcellular localization by binding to GTP-bound small GTPases, stabilizing ARL3-GTP and increasing its GTP affinity 2. Mechanism: PDE6D recruits and transports prenylated ciliary cargo, including INPP5E, NIM1K, and UBL3, to primary cilia through its interaction with ciliary targeting complexes containing RPGR, ARL13B, and TULP3 32. Disease relevance: Mutations in PDE6D cause Joubert syndrome 22 (JBTS22), a ciliopathy characterized by cerebellar abnormalities 4. PDE6D dysfunction also leads to photoreceptor degeneration and retinal damage in mice 2. Clinical significance: PDE6D represents a therapeutic target in castration-resistant prostate cancer, where PDE6D degradation enhances metformin sensitivity and activates cGMP/PKG signaling pathways 5. Small molecule degraders like TMX-4100 have been developed to selectively target PDE6D 6.

Sources cited
1
PDE6D is a 17 kDa subunit that detaches PDE from rod outer segment membranes and is conserved across species with four-exon gene structure
PMID: 9570951
2
PDE6D mediates trafficking of prenylated proteins NIM1K and UBL3 to cilia; mutations cause Joubert Syndrome and retinal degeneration
PMID: 36672247
3
PDE6D recruits to INPP5E's CaaX box and cooperates with RPGR and ARL13B for ciliary targeting of this phosphoinositide phosphatase
PMID: 36063381
4
PDE6D is a confirmed candidate gene in ciliopathies, supporting its role in ciliary function and disease pathogenesis
PMID: 32055034
5
PDE6D regulates purine metabolism and cGMP/PKG pathway; PDE6D degradation enhances metformin sensitivity in castration-resistant prostate cancer
PMID: 40216151
6
TMX-4100 and TMX-4116 are selective PDE6D and CK1Ξ± degraders developed through CRBN-mediated ubiquitin ligase engagement
PMID: 34965125
Disease Associationsβ“˜21
Joubert syndrome with orofaciodigital defectOpen Targets
0.67Moderate
coronary artery diseaseOpen Targets
0.54Moderate
strokeOpen Targets
0.54Moderate
cancerOpen Targets
0.39Weak
cardiovascular diseaseOpen Targets
0.39Weak
Joubert syndromeOpen Targets
0.37Weak
hypertensionOpen Targets
0.37Weak
intermittent vascular claudicationOpen Targets
0.37Weak
orofaciodigital syndrome type 6Open Targets
0.37Weak
Recurrent thrombophlebitisOpen Targets
0.37Weak
chronic kidney diseaseOpen Targets
0.35Weak
Hepatitis, AlcoholicOpen Targets
0.33Weak
Neonatal sepsisOpen Targets
0.32Weak
non-alcoholic steatohepatitisOpen Targets
0.31Weak
COVID-19Open Targets
0.29Weak
necrotizing enterocolitisOpen Targets
0.28Weak
osteonecrosisOpen Targets
0.28Weak
chronic renal failure syndromeOpen Targets
0.27Weak
avascular necrosisOpen Targets
0.26Weak
cirrhosis of liverOpen Targets
0.26Weak
Joubert syndrome 22UniProt
Pathogenic Variants8
NM_002601.4(PDE6D):c.114del (p.Ser39fs)Pathogenic
Joubert syndrome 22
β˜…β˜†β˜†β˜†2024β†’ Residue 39
NM_002601.4(PDE6D):c.66del (p.Arg23fs)Pathogenic
Joubert syndrome 22
β˜…β˜†β˜†β˜†2022β†’ Residue 23
NM_002601.4(PDE6D):c.181C>T (p.Arg61Ter)Pathogenic
Joubert syndrome 22
β˜…β˜†β˜†β˜†2022β†’ Residue 61
NM_002601.4(PDE6D):c.342del (p.Glu114fs)Pathogenic
Joubert syndrome 22
β˜…β˜†β˜†β˜†2022β†’ Residue 114
NM_002601.4(PDE6D):c.257del (p.Cys86fs)Likely pathogenic
Joubert syndrome 22
β˜…β˜†β˜†β˜†2022β†’ Residue 86
NM_002601.4(PDE6D):c.46A>T (p.Lys16Ter)Pathogenic
Joubert syndrome 22
β˜†β˜†β˜†β˜†2021β†’ Residue 16
NM_002601.4(PDE6D):c.367_368insG (p.Leu123fs)Pathogenic
Joubert syndrome 22
β˜†β˜†β˜†β˜†2020β†’ Residue 123
NM_002601.4(PDE6D):c.140-1G>APathogenic
Joubert syndrome 22
β˜†β˜†β˜†β˜†2014
View on ClinVar β†—
Drug Targets2
DIPYRIDAMOLEApproved
3',5'-cyclic phosphodiesterase inhibitor
coronary artery disease
PENTOXIFYLLINEApproved
Adenosine A2 receptor antagonist
cardiovascular disease
Related Genes
UNC119Protein interaction100%UNC119BProtein interaction100%GMPSProtein interaction99%RHEBProtein interaction98%ARL2Protein interaction98%ARL3Protein interaction97%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
72%
Heart
63%
Lung
52%
Ovary
45%
Liver
43%
Gene Interaction Network
Click a node to explore
PDE6DUNC119UNC119BGMPSRHEBARL2ARL3
PROTEIN STRUCTURE
Preparing viewer…
PDB5ML3 Β· 1.40 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.03LoF Tolerant
pLIβ“˜
0.23Tolerant
Observed/Expected LoF0.45 [0.22–1.03]
RankingsWhere PDE6D stands among ~20K protein-coding genes
  • #8,856of 20,598
    Most Researched50
  • #664of 1,025
    FDA-Approved Drug Targets2
  • #3,094of 5,498
    Most Pathogenic Variants8
  • #10,133of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedPDE6D
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 20301500
1.00
2
The morbid genome of ciliopathies: an update.
PMID: 32055034
Genet Med Β· 2020
0.90
3
Multiple ciliary localization signals control INPP5E ciliary targeting.
PMID: 36063381
Elife Β· 2022
0.80
4
Phosphodiesterase and psychiatric disorders: a two-sample Mendelian randomization study.
PMID: 37605207
J Transl Med Β· 2023
0.70
5
Characterization of human and mouse rod cGMP phosphodiesterase delta subunit (PDE6D) and chromosomal localization of the human gene.
PMID: 9570951
Genomics Β· 1998
0.60