Version 5.4
Homo sapiens Gene: PDE6H
Summary
InnateDB Gene IDBG-21399.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PDE6H
Gene Name phosphodiesterase 6H, cGMP-specific, cone, gamma
Synonyms ACHM6; RCD3
Species Homo sapiens
Ensembl Gene ENSG00000139053
Encoded Proteins
IDBP-21401
phosphodiesterase 6H, cGMP-specific, cone, gamma
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). [provided by RefSeq, Mar 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:14973022-14981865
Strand Forward strand
Band p12.3
Transcripts
ENST00000266395 ENSP00000266395
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 3 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004114 3',5'-cyclic-nucleotide phosphodiesterase activity
GO:0004857 enzyme inhibitor activity
GO:0030553 cGMP binding
GO:0047555 3',5'-cyclic-GMP phosphodiesterase activity
Biological Process
GO:0000187 activation of MAPK activity
GO:0007601 visual perception
GO:0008152 metabolic process
GO:0043086 negative regulation of catalytic activity
GO:0045742 positive regulation of epidermal growth factor receptor signaling pathway
GO:0045745 positive regulation of G-protein coupled receptor protein signaling pathway
GO:0050896 response to stimulus
Cellular Component
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000064330
View Gene Order
ENSBTAG00000013635
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa00230
Purine metabolism pathway
INOH
INOH website
Purine nucleotides nucleosides metabolism pathway
PID NCI
cone_pathway
Visual signal transduction: Cones
Cross-References
SwissProt Q13956
TrEMBL
UniProt Splice Variant
Entrez Gene 5149
UniGene Hs.54471
RefSeq NM_006205
HUGO HGNC:8790
OMIM 601190
CCDS CCDS8672
HPRD
IMGT
EMBL BC069774 BC069800 BC093738 BC093740 D45399
GenPept AAH69774 AAH69800 AAH93738 AAH93740 BAA08241
RNA Seq Atlas 5149

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