ENSMUSG00000024575


Mus musculus

Features
Gene ID: ENSMUSG00000024575
  
Biological name :Pde6a
  
Synonyms : Pde6a / phosphodiesterase 6A
  
Possible biological names infered from orthology : P16499
  
Species: Mus musculus
  
Chr. number: 18
Strand: 1
Band: E1
Gene start: 61220482
Gene end: 61289924
  
Corresponding Affymetrix probe sets: 10456096 (MoGene1.0st)   1450415_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000025468
Ensembl peptide - ENSMUSP00000115963
NCBI entrez gene - 225600     See in Manteia.
MGI - MGI:97524
RefSeq - NM_146086
RefSeq - XM_006525880
RefSeq Peptide - NP_666198
swissprot - F6UDG9
swissprot - Q8K0A8
Ensembl - ENSMUSG00000024575
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pde6aENSDARG00000000380Danio rerio
 PDE6AENSG00000132915Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Pde6b / P23440 / phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide / P35913* / phosphodiesterase 6B*ENSMUSG0000002949173
Pde6c / Q91ZQ1 / Cone cGMP-specific 3,5-cyclic phosphodiesterase subunit alpha / P51160* / phosphodiesterase 6C*ENSMUSG0000002499262
P0C1Q2 / Pde11a / Dual 3,5-cyclic-AMP and -GMP phosphodiesterase 11A / Q9HCR9* / phosphodiesterase 11A*ENSMUSG0000007527030
Pde5a / Q8CG03 / cGMP-specific 3,5-cyclic phosphodiesterase / O76074* / phosphodiesterase 5A*ENSMUSG0000005396529
Gm45837 / cGMP-dependent 3,5-cyclic phosphodiesterase isoform PDE2A1 / PDE2A* / O00408* / phosphodiesterase 2A*ENSMUSG0000003065324
Pde2a / phosphodiesterase 2A, cGMP-stimulated / O00408* / phosphodiesterase 2A*ENSMUSG0000011019524
Pde10a / Q8CA95 / phosphodiesterase 10A / Q9Y233*ENSMUSG0000002386823
Pde3a / Q9Z0X4 / phosphodiesterase 3A, cGMP inhibited / Q14432* / phosphodiesterase 3A*ENSMUSG0000004174118
Pde3b / phosphodiesterase 3B / Q13370*ENSMUSG0000003067116
Pde9a / O70628 / High affinity cGMP-specific 3,5-cyclic phosphodiesterase 9A / O76083* / phosphodiesterase 9A*ENSMUSG0000004111915


Protein motifs (from Interpro)
Interpro ID Name
 IPR002073  3"5"-cyclic nucleotide phosphodiesterase, catalytic domain
 IPR003018  GAF domain
 IPR003607  HD/PDEase domain
 IPR023088  3"5"-cyclic nucleotide phosphodiesterase
 IPR023174  3"5"-cyclic nucleotide phosphodiesterase, conserved site
 IPR029016  GAF-like domain superfamily
 IPR032958  Rod cGMP-specific 3",5"-cyclic phosphodiesterase subunit alpha
 IPR036971  3"5"-cyclic nucleotide phosphodiesterase, catalytic domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0046037 GMP metabolic process IEA
 biological_processGO:0051480 regulation of cytosolic calcium ion concentration IEA
 cellular_componentGO:0005623 cell IEA
 molecular_functionGO:0004114 3",5"-cyclic-nucleotide phosphodiesterase activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008081 phosphoric diester hydrolase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0047555 3",5"-cyclic-GMP phosphodiesterase activity IEA


Pathways (from Reactome)
Pathway description
Activation of the phototransduction cascade
Inactivation, recovery and regulation of the phototransduction cascade
Ca2+ pathway


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001326 retinal degeneration "pathological change in the thin layer of neural tissue lining the back of the eyeball, which contains visual receptors and can result in the impairment or cessation of retinal neural function" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
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Allelic Composition: Bmp2tm1Brd/Bmp2+,Tbx1tm1Pa/Tbx1+
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Pde6atvrm58/Pde6atvrm58
Genetic Background: involves: C57BL/6J

Allelic Composition: Pde6anmf282/Pde6atvrm58
Genetic Background: involves: A/J * C57BL/6J

 MP:0001327 reduced retinal photoreceptor cell number "fewer than the expected number of rods and/or cones" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Bmp2tm1Brd/Bmp2+,Tbx1tm1Pa/Tbx1+
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Pde6anmf282/Pde6anmf282
Genetic Background: involves: A/J * C57BL/6J

Allelic Composition: Pde6anmf363/Pde6anmf363
Genetic Background: involves: A/J * C57BL/6J

 MP:0002864 abnormal ocular fundus morphology "malformation of the posterior concave interior of the eye, consisting of the retina, the choroid, the posterior segment of the sclera, the optic disk, and blood vessels, visible by an ophthalmoscope" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Bmp2tm1Brd/Bmp2+,Tbx1tm1Pa/Tbx1+
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Pde6atvrm58/Pde6atvrm58
Genetic Background: involves: C57BL/6J

 MP:0005551 abnormal eye electrophysiology "abnormal function of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram)" [NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
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Allelic Composition: Tbx10Dc/Tbx10Dc
Genetic Background: involves: C3H/HeJ

 MP:0008025 brain vacuoles "the abnormal presence of cavities or fluid-filled vesicles in the soma of brain cells, often indicative of spongiosis or other pathological states" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Bmp2tm1Brd/Bmp2+,Tbx1tm1Pa/Tbx1+
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0008450 retinal photoreceptor degeneration "a retrogressive impairment of function or destruction of a cell specialized to detect and transduce light, including rods and cones of the retina" [MESH:A08.663.650.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Bmp2tm1Brd/Bmp2+,Tbx1tm1Pa/Tbx1+
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Pde6anmf363/Pde6anmf363
Genetic Background: C57BL/6J-Pde6anmf363

Allelic Composition: Pde6anmf282/Pde6anmf282
Genetic Background: involves: A/J * C57BL/6J

Allelic Composition: Pde6anmf363/Pde6anmf363
Genetic Background: involves: A/J * C57BL/6J

Allelic Composition: Pde6anmf282/Pde6anmf363
Genetic Background: involves: A/J * C57BL/6J

 MP:0008515 thin retinal outer nuclear layer "reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Bmp2tm1Brd/Bmp2+,Tbx1tm1Pa/Tbx1+
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Pde6anmf363/Pde6anmf363
Genetic Background: C57BL/6J-Pde6anmf363

Allelic Composition: Pde6anmf282/Pde6anmf282
Genetic Background: involves: A/J * C57BL/6J

Allelic Composition: Pde6anmf363/Pde6anmf363
Genetic Background: involves: A/J * C57BL/6J

Allelic Composition: Pde6anmf282/Pde6anmf363
Genetic Background: involves: A/J * C57BL/6J

Allelic Composition: Pde6atvrm58/Pde6atvrm58
Genetic Background: involves: C57BL/6J

 MP:0008582 short photoreceptor inner segment "decreased length of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Bmp2tm1Brd/Bmp2+,Tbx1tm1Pa/Tbx1+
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0008585 absent photoreceptor outer segment "absence of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Bmp2tm1Brd/Bmp2+,Tbx1tm1Pa/Tbx1+
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0008587 short photoreceptor outer segment "decreased length of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Bmp2tm1Brd/Bmp2+,Tbx1tm1Pa/Tbx1+
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Pde6anmf282/Pde6anmf282
Genetic Background: involves: A/J * C57BL/6J

Allelic Composition: Pde6anmf363/Pde6anmf363
Genetic Background: involves: A/J * C57BL/6J

Allelic Composition: Pde6anmf282/Pde6anmf363
Genetic Background: involves: A/J * C57BL/6J

 MP:0012029 abnormal electroretinogram waveform feature "any anomaly in the pattern of the graphic record of the integrated ensemble response from many vision related neuronal and glial populations as a consequence of the serial processing within the retina, represented as changes in voltage over time after visual photonic stimulation" [MGI:csmith]
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Allelic Composition: Bmp2tm1Brd/Bmp2+,Tbx1tm1Pa/Tbx1+
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0012671 retinal spots "the appearance of roundish lesions on the retina, frequently white, and may be due to inflammation, degeneration, vasculitis, exudates, edema or mineral deposits" [MGI:csmith]
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Allelic Composition: Bmp2tm1Brd/Bmp2+,Tbx1tm1Pa/Tbx1+
Genetic Background: involves: 129/Sv * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000034837 Gnat1 / P20612 / guanine nucleotide binding protein, alpha transducing 1 / P11488* / G protein subunit alpha transducin 1*  / complex
 ENSMUSG00000029491 Pde6b / P23440 / phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide / P35913* / phosphodiesterase 6B*  / complex
 ENSMUSG00000025386 Pde6g / P09174 / phosphodiesterase 6G, cGMP-specific, rod, gamma / P18545* / phosphodiesterase 6G*  / complex
 ENSMUSG00000009108 Gnat2 / P50149 / guanine nucleotide binding protein, alpha transducing 2 / P19087* / G protein subunit alpha transducin 2*  / complex






 

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