About   Help   FAQ
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 western clawed frog; 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
Mutations,
alleles, and
phenotypes
All mutations/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)   
Interactions
Pde6c interacts with 69 markers (Mir26a-2, Mir26b, Mir130a, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (5 records)
Data Summary: Results (127)    Tissues (100)    Images (22)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 127
cDNA source data(7)
External Resources: Allen Institute   GEO   Expression Atlas
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)
Disease annotation references (1)
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
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
10/08/2014
MGI 5.20
The Jackson Laboratory