Pde6a
Gene Detail

Symbol Name ID

Pde6a phosphodiesterase 6A, cGMP-specific, rod, alpha MGI:97524

Synonyms

Pdea

Feature Type

protein coding gene

Genetic Map

Chromosome 18

34.41 cM
Detailed Genetic Map ± 1 cM


Mapping data(9)

Sequence Map

Chr18:61220482-61289924 bp, + strand From VEGA annotation of GRCm38   69443 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:380  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

Protein SuperFamily: 3',5'-cyclic-GMP phosphodiesterase alpha chain
Gene Tree: Pde6a

Human homologs

Human Homolog		PDE6A, phosphodiesterase 6A, cGMP-specific, rod, alpha
NCBI Gene ID		5145
neXtProt AC		NX_P16499
Human Synonyms		CGPR-A, PDEA, RP43
Human Chr (Location)		5q31.2-q34; chr5:149237519-149324356 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human PDE6A

Alleles and phenotypes

All alleles(5) : Gene trapped(3) Chemically induced(2)
 

Homozygous mutant mice have retinal degeneration.

 
Human Diseases Modeled Using Mouse Pde6a (1)    Alleles Annotated to Human Diseases(2)   

Gene Ontology (GO) classifications

All GO classifications: (14 annotations)

Process	cytosolic calcium ion homeostasis, GMP metabolic process, ...
Component	membrane, plasma membrane
Function	3',5'-cyclic-GMP phosphodiesterase activity, 3',5'-cyclic-nucleotide phosphodiesterase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (3 records)
Data Summary: Results (21)    Tissues (8)    Images (2)
Theiler Stages: 15, 17, 19, 20, 21, 22, 28

Assay Type	Results
RNA in situ	2
RT-PCR	19

cDNA source data(59)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(66) cDNA(63) Primer pair(1) Other(2)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000028119 (Evidence)
Ensembl Gene Model	ENSMUSG00000024575 (Evidence)
Entrez Gene	225600 (Evidence)
UniGene	391106
DFCI	TC1581554, TC1617311
DoTS	DT.101713042, DT.110778031, DT.87039666, DT.91408295
NIA Mouse Gene Index	U018790
EC	3.1.4.35
Consensus CDS Project	CCDS29283.1
International Mouse Knockout Project Status	Pde6a

Sequences

Length	Strain/Species
genomic	OTTMUSG00000028119	VEGA Gene Model | MGI Sequence Detail	69443	C57BL/6J
transcript	OTTMUST00000069637	VEGA | MGI Sequence Detail	4421	Not Applicable
polypeptide	OTTMUSP00000035390	VEGA | MGI Sequence Detail	860	Not Applicable

All sequences(31) RefSeq(2) UniProt(5)

Polymorphisms

RFLP(4) : SNPs(321 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:000012478	rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha

References

(Earliest) J:24992 Ovchinnikov YuA, et al., Cyclic GMP phosphodiesterase from cattle retina. Amino acid sequence of the gamma-subunit and nucleotide sequence of the corresponding cDNA. FEBS Lett. 1986 Aug 18;204(2):288-92
(Latest) J:191119 Wert KJ, et al., Gene therapy provides long-term visual function in a pre-clinical model of retinitis pigmentosa. Hum Mol Genet. 2013 Feb 1;22(3):558-67
All references(47)

Other accession IDs

MGD-MRK-13208, MGI:3611305