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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
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:61220499-61289750 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 34.41 cM
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    538 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97524
protein coding gene Chr18:61220482-61289924 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024478
protein coding gene Chr18:61091342-61173772 (+)
A/J MGP_AJ_G0024445
protein coding gene Chr18:58470953-58540149 (+)
AKR/J MGP_AKRJ_G0024415
protein coding gene Chr18:60078313-60154719 (+)
BALB/cJ MGP_BALBcJ_G0024444
protein coding gene Chr18:58600031-58668488 (+)
C3H/HeJ MGP_C3HHeJ_G0024212
protein coding gene Chr18:60306119-60380770 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024891
protein coding gene Chr18:62736362-62823411 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022322
protein coding gene Chr18:58016575-58084698 (+)
CAST/EiJ MGP_CASTEiJ_G0023685
protein coding gene Chr18:60177689-60261481 (+)
CBA/J MGP_CBAJ_G0024182
protein coding gene Chr18:64758059-64837424 (+)
DBA/2J MGP_DBA2J_G0024312
protein coding gene Chr18:58137460-58207016 (+)
FVB/NJ MGP_FVBNJ_G0024278
protein coding gene Chr18:57546981-57619406 (+)
LP/J MGP_LPJ_G0024395
protein coding gene Chr18:60935419-61012332 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024307
protein coding gene Chr18:66375429-66454580 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024938
protein coding gene Chr18:60271808-60342500 (+)
PWK/PhJ MGP_PWKPhJ_G0023428
protein coding gene Chr18:58358435-58445867 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023234
protein coding gene Chr18:60496504-60590037 (+)
WSB/EiJ MGP_WSBEiJ_G0023749
protein coding gene Chr18:60129840-60208848 (+)



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
    15 phenotypes from 4 alleles in 5 genetic backgrounds
    1 phenotype from multigenic genotypes
    12 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 population 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 225600 NCBI Gene Model | MGI Sequence Detail 69252 C57BL/6J ±  kb
    transcript NM_146086 RefSeq | MGI Sequence Detail 4255 C57BL/6  
    polypeptide P27664 UniProt | EBI | MGI Sequence Detail 859 Not Applicable  
    For the selected sequence
    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 54
      Developmental Gene Expression 7
      Diseases 1
      Gene Ontology 7
      Phenotypes 12
    • 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
    03/13/2019
    MGI 6.13
    The Jackson Laboratory