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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: PDE6C
Gene Tree: Pde6c

Human
homologs
PDE6C, phosphodiesterase 6C, cGMP-specific, cone, alpha prime
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 5146
neXtProt AC: NX_P51160

Human Synonyms: ACHM5, COD4, PDEA2

Human Chr (Location): 10q24; chr10:93612588-93665673 (+)  GRCh38.p2

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 in Mice Using Pde6c (1)    Mutations 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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase pde6c ; ZFIN pde6c    NEW 
Molecular
reagents
All nucleic(7) cDNA(7)
Microarray probesets(2)
Other database
links
Ensembl Gene Model ENSMUSG00000024992 (Evidence)
Entrez Gene 110855 (Evidence)
UniGene 450141
DFCI TC1592160, TC1627308
DoTS DT.97358198, DT.94154497
NIA Mouse Gene Index U019420
EC 3.1.4.35
Consensus CDS Project CCDS37971.1, CCDS50431.1
International Mouse Phenotyping Consortium Status Pde6c
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:222061 Santos-Ferreira T, et al., Daylight vision repair by cell transplantation. Stem Cells. 2015 Jan;33(1):79-90
All references(43)
Disease annotation references (2)
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
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory