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

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Pde6c ± 2 cM)

Gene Tree: Pde6c

Human ortholog

PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime NCBI Gene ID 5146
Human Synonyms: ACHM5, COD4, PDEA2
Human Chr10:95372345-95425430 bp, + strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human PDE6C (1)

Alleles and phenotypes

All alleles(3) : Targeted(2) Spontaneous(1)
 

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: (16 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 Type	Results
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 Model	ENSMUSG00000024992 (Evidence)
Entrez Gene	110855 (Evidence)
UniGene	450141
DFCI	TC1592160, TC1627308
DoTS	DT.94154497, DT.97358198
NIA Mouse Gene Index	U019420
EC	3.1.4.35
Consensus CDS Project	CCDS37971.1, CCDS50431.1
International Mouse Knockout Project Status	Pde6c

Sequences

Length	Strain/Species
genomic	ENSMUSG00000024992	Ensembl Gene Model | MGI Sequence Detail	51167	C57BL/6J
transcript	ENSMUST00000025956	Ensembl | MGI Sequence Detail	2959	Not Applicable
polypeptide	ENSMUSP00000025956	Ensembl | MGI Sequence Detail	861	Not Applicable

All sequences(18) RefSeq(4) UniProt(1)

Polymorphisms

SNPs(134 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:191567 Lei B, Rod-driven OFF pathway responses in the distal retina: dark-adapted flicker electroretinogram in mouse. PLoS One. 2012;7(8):e43856
All references(41)

Other accession IDs

MGD-MRK-33635, MGI:1890403