• Gene id: 5147

Gene Summary

• Gene Symbol: PDE6D   Gene   UCSC   Ensembl
• Aliases: JBTS22, PDED
• Gene name: phosphodiesterase 6D
• Alternate names: retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta, GMP-PDE delta, phosphodiesterase 6D, cGMP-specific, rod, delta, protein p17,
• Gene location: 2q37.1 (231781326: 231732424)     Exons: 6     NC_000002.12
• Gene summary(Entrez): This gene encodes the delta subunit of rod-specific photoreceptor phosphodiesterase (PDE), a key enzyme in the phototransduction cascade. A similar protein in cow functions in solubilizing membrane-bound PDE. In addition to its role in the PDE complex, th
• OMIM: 602676

Protein Summary

• Protein general information: O43924  
  • Name: Retinal rod rhodopsin sensitive cGMP 3',5' cyclic phosphodiesterase subunit delta (GMP PDE delta) (Protein p17)
  • Length: 150  
  • Mass: 17420
  • Tissue specificity: Widely expressed. Detected in various tissues including spleen, prostate gland, testis, ovary, small intestine, colon, retina, and peripheral blood. {ECO
• Sequence:

  MSAKDERAREILRGFKLNWMNLRDAETGKILWQGTEDLSVPGVEHEARVPKKILKCKAVSRELNFSSTEQMEKFR
  LEQKVYFKGQCLEEWFFEFGFVIPNSTNTWQSLIEAAPESQMMPASVLTGNVIIETKFFDDDLLVSTSRVRLFYV

• Structural information:
  • Interpro: IPR014756  IPR008015  IPR037036  IPR017287  
  • PDB: 1KSG 1KSH 1KSJ 3T5G 3T5I 4JHP 4JV6 4JV8 4JVB 4JVF 5E80 5E8F 5F2U 5ML2 5ML3 5ML4 5ML6 5ML8 5NAL 5TAR 5TB5 5X72 5X73 5X74 5YAV 5YAW
  • PDBsum: 1KSG 1KSH 1KSJ 3T5G 3T5I 4JHP 4JV6 4JV8 4JVB 4JVF 5E80 5E8F 5F2U 5ML2 5ML3 5ML4 5ML6 5ML8 5NAL 5TAR 5TB5 5X72 5X73 5X74 5YAV 5YAW
  • DIP: 36660
  • STRING: ENSP00000287600
• Other Databases: GeneCards:  PDE6D  Malacards:  PDE6D

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005095	GTPase inhibitor activity	ISS	molecular function
GO:0004114	3',5'-cyclic-nucleotide phosphodiesterase activity	IEA	molecular function
GO:0050953	sensory perception of light stimulus	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0050896	response to stimulus	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0007601	visual perception	TAS	biological process
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005095	GTPase inhibitor activity	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0034260	negative regulation of GTPase activity	IEA	biological process
GO:0034260	negative regulation of GTPase activity	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism

Diseases

Associated diseases	References
Joubert syndrome	KEGG:H00530
Joubert syndrome	KEGG:H00530
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray