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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
  • Alliance
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, HGNC
  • Synonyms
    CGPR-A, PDEA, RP43
  • Links
    NCBI Gene ID: 5145
    neXtProt AC: NX_P16499
    UniProt: P16499

  • Chr Location
    5q32; chr5:149857956-149944793 (-)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 2 models
      
IDs
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
    11 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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
    less
    • SNPs within 2kb
      538 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • EC
    • InterPro Domains
      IPR023088 3'5'-cyclic nucleotide phosphodiesterase
      IPR002073 3'5'-cyclic nucleotide phosphodiesterase, catalytic domain
      IPR036971 3'5'-cyclic nucleotide phosphodiesterase, catalytic domain superfamily
      IPR023174 3'5'-cyclic nucleotide phosphodiesterase, conserved site
      IPR003018 GAF domain
      IPR029016 GAF-like domain superfamily
      IPR003607 HD/PDEase domain
      IPR032958 Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha
    Molecular
    Reagents
    less
    • All nucleic 66
      cDNA 63
      Primer pair 1
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-13208, MGI:3611305
    References
    more
    • Summaries
      All 53
      Developmental Gene Expression 7
      Diseases 1
      Gene Ontology 6
      Phenotypes 11
    • 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:239714 Ronquillo CC, et al., Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation. FASEB J. 2016 Oct;30(10):3400-3412

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    10/09/2018
    MGI 6.12
    The Jackson Laboratory