Homo sapiens Gene: PDE6C
Summary
InnateDB Gene IDBG-82906.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PDE6C
Gene Name phosphodiesterase 6C, cGMP-specific, cone, alpha prime
Synonyms ACHM5; COD4; PDEA2;
Species Homo sapiens
Ensembl Gene ENSG00000095464
Encoded Proteins
phosphodiesterase 6C, cGMP-specific, cone, alpha prime
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:93612588-93666010
Strand Forward strand
Band q23.33
Transcripts
ENST00000371447 ENSP00000360502
ENST00000475427
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0004114 3',5'-cyclic-nucleotide phosphodiesterase activity
GO:0005515 protein binding
GO:0030553 cGMP binding
GO:0046872 metal ion binding
GO:0047555 3',5'-cyclic-GMP phosphodiesterase activity
Biological Process
GO:0007165 signal transduction
GO:0007601 visual perception
GO:0007603 phototransduction, visible light
GO:0008152 metabolic process
GO:0046549 retinal cone cell development
GO:0050953 sensory perception of light stimulus
Cellular Component
GO:0005886 plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Purine metabolism pathway
INOH
Purine nucleotides nucleosides metabolism pathway
PID BIOCARTA
PID NCI
Visual signal transduction: Cones
Cross-References
SwissProt P51160
TrEMBL
UniProt Splice Variant
Entrez Gene 5146
UniGene Hs.658121
RefSeq NM_006204
HUGO HGNC:8787
OMIM 600827
CCDS CCDS7429
HPRD 02898
IMGT
EMBL AL157396 AL356214 CH471066 U20196 U20197 U20199 U20200 U20201 U20202 U20203 U20204 U20205 U20206 U20207 U20208 U20209 U20210 U20211 U20212 U31973 X94354
GenPept AAA92886 AAA96392 CAA64079 CAH72330 CAH73839 EAW50064
RNA Seq Atlas 5146