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Pde6c
Gene Detail
 Symbol
Name
ID
Pde6c
phosphodiesterase 6C, cGMP specific, cone, alpha prime
MGI:105956
Synonyms cpfl1
Feature Type protein coding gene
Genetic Map
Chromosome 19
32.77 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr19:38132781-38183947 bp, + strand
From Ensembl annotation of GRCm38

  51167 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4521  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Pde6c

Human
homologs
Human Homolog PDE6C, phosphodiesterase 6C, cGMP-specific, cone, alpha prime
NCBI Gene ID 5146
neXtProt AC  NX_P51160
Human Synonyms  ACHM5, COD4, PDEA2
Human Chr (Location)  10q24; chr10:93612588-93665673 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human PDE6C
Alleles
and
phenotypes
All alleles(4) : Spontaneous(1) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
A spontaneous mutation in this gene results in abnormal cone photoreceptor function.
 
Human Diseases Modeled Using Mouse Pde6c (1)    Alleles Annotated to Human Diseases(1)   
Gene Ontology
(GO)
classifications
All GO classifications: (15 annotations)
Process phototransduction, visible light, response to stimulus, ...
Component membrane, plasma membrane
Function 3',5'-cyclic-GMP phosphodiesterase activity, 3',5'-cyclic-nucleotide phosphodiesterase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (127)    Tissues (100)    Images (22)
Theiler Stages: 22, 23, 28
Assay TypeResults
RNA in situ 127
cDNA source data(7)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(7) cDNA(7)
Microarray probesets(2)
Other database
links
Ensembl Gene ModelENSMUSG00000024992 (Evidence)
Entrez Gene110855 (Evidence)
UniGene450141
DFCITC1592160, TC1627308
DoTSDT.94154497, DT.97358198
NIA Mouse Gene IndexU019420
EC3.1.4.35
Consensus CDS ProjectCCDS37971.1, CCDS50431.1
International Mouse Knockout Project StatusPde6c
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000024992 Ensembl Gene Model | MGI Sequence Detail 51167 C57BL/6J ±  kb
transcript ENSMUST00000025956 Ensembl | MGI Sequence Detail 2959 Not Applicable 
polypeptide ENSMUSP00000025956 Ensembl | MGI Sequence Detail 861 Not Applicable 

For the selected sequences
All sequences(20) RefSeq(6) UniProt(1)
Polymorphisms SNPs within 2kb(268 from dbSNP Build 137)    SNPs within 2kb including multiple locations(270)
Protein-related
information
ResourceIDDescription
InterPro IPR023088 3'5'-cyclic nucleotide phosphodiesterase
InterPro IPR002073 3'5'-cyclic nucleotide phosphodiesterase, catalytic domain
InterPro IPR023174 3'5'-cyclic nucleotide phosphodiesterase, conserved site
InterPro IPR003018 GAF domain
InterPro IPR003607 HD/PDEase domain
Protein Ontology PR:000012480 cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'
References (Earliest) J:75095 Chang B, et al., Retinal degeneration mutants in the mouse. Vision Res. 2002 Feb;42(4):517-25
(Latest) J:207409 Ma H, et al., Suppressing thyroid hormone signaling preserves cone photoreceptors in mouse models of retinal degeneration. Proc Natl Acad Sci U S A. 2014 Mar 4;111(9):3602-7
All references(43)
Other
accession IDs
MGD-MRK-33635, MGI:1890403

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory