Version 5.4
Homo sapiens Gene: PDE6D
Summary
InnateDB Gene IDBG-83150.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PDE6D
Gene Name phosphodiesterase 6D, cGMP-specific, rod, delta
Synonyms JBTS22; PDED
Species Homo sapiens
Ensembl Gene ENSG00000156973
Encoded Proteins
IDBP-83152
phosphodiesterase 6D, cGMP-specific, rod, delta
IDBP-292916
phosphodiesterase 6D, cGMP-specific, rod, delta
IDBP-389271
phosphodiesterase 6D, cGMP-specific, rod, delta
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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, the encoded protein is thought to bind to prenyl groups of proteins to target them to subcellular organelles called cilia. Mutations in this gene are associated with Joubert syndrome-22. Alternative splicing results in multiple splice variants. [provided by RefSeq, Mar 2014]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:231732425-231786272
Strand Reverse strand
Band q37.1
Transcripts
ENST00000287600 ENSP00000287600
ENST00000409772 ENSP00000387108
ENST00000428104 ENSP00000399098
ENST00000486044
ENST00000477748
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 37 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 37 [view]
Protein-Protein 31 [view]
Protein-DNA 6 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004114 3',5'-cyclic-nucleotide phosphodiesterase activity
GO:0005095 GTPase inhibitor activity
GO:0005515 protein binding
GO:0017137 Rab GTPase binding
Biological Process
GO:0007601 visual perception
GO:0008152 metabolic process
GO:0033124 regulation of GTP catabolic process
GO:0043086 negative regulation of catalytic activity
GO:0050896 response to stimulus
Cellular Component
GO:0005829 cytosol
GO:0030659 cytoplasmic vesicle membrane
GO:0031410 cytoplasmic vesicle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000026239
View Gene Order
ENSBTAG00000019480
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa00230
Purine metabolism pathway
INOH
INOH website
Purine nucleotides nucleosides metabolism pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_001291018 NM_002601
HUGO
OMIM
CCDS CCDS33398
HPRD 04056
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca