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Pde6a Gene Detail
Summary
  • Symbol
    Pde6a
  • Name
    phosphodiesterase 6A, cGMP-specific, rod, alpha
  • Synonyms
    Pdea
  • Feature Type
    protein coding gene
  • IDs
    MGI:97524
    NCBI Gene: 225600
  • Gene Overview
    MyGene.info: PDE6A
Location & Maps
more
  • Sequence Map
    Chr18:61220482-61289924 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      69443 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 34.41 cM
  • Mapping Data
    9 experiments
Homology
more
  • Human Ortholog
    PDE6A, phosphodiesterase 6A
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PDE6A, phosphodiesterase 6A
    Orthology source: HomoloGene
  • Synonyms
    CGPR-A, PDEA, RP43
  • Links
    NCBI Gene ID: 5145
    neXtProt AC: NX_P16499

  • Chr Location
    5q31.2-q34; chr5:149857956-149959518 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Pde6a mouse models; 1 with human PDE6A associations

Human Disease Mouse Models
       Retinitis Pigmentosa; RP   OMIM: 268000 View 2 models
       Retinitis Pigmentosa 43; RP43   OMIM: 613810
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    12 phenotypes from 3 alleles in 4 genetic backgrounds
    1 phenotype from multigenic genotypes
    8 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Chemically induced (ENU)
    3
  • Gene trapped
    3
  • Incidental Mutations
Homozygous mutant mice have retinal degeneration.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000028119 VEGA Gene Model | MGI Sequence Detail 69443 C57BL/6J ±  kb
transcript OTTMUST00000069637 VEGA | MGI Sequence Detail 4421 Not Applicable  
polypeptide OTTMUSP00000035390 VEGA | MGI Sequence Detail 860 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    538 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000012478 rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha
  • EC
  • InterPro Domains
    IPR023088 3'5'-cyclic nucleotide phosphodiesterase
    IPR002073 3'5'-cyclic nucleotide phosphodiesterase, catalytic domain
    IPR023174 3'5'-cyclic nucleotide phosphodiesterase, conserved site
    IPR003018 GAF domain
    IPR029016 GAF domain-like
    IPR003607 HD/PDEase domain
    IPR032958 Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha
Molecular
Reagents
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  • All nucleic 65
    cDNA 62
    Primer pair 1
    Other 2

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-13208, MGI:3611305
References
more
  • Summaries
    All 46
    Developmental Gene Expression 5
    Diseases 1
    Gene Ontology 6
    Phenotypes 8
  • 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:224407 Murphy D, et al., Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis Pigmentosa. Mol Cell Biol. 2015 May;35(10):1860-70

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory