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Pde6c Gene Detail
Summary
  • Symbol
    Pde6c
  • Name
    phosphodiesterase 6C, cGMP specific, cone, alpha prime
  • Synonyms
    cpfl1
  • Feature Type
    protein coding gene
  • IDs
    MGI:105956
    NCBI Gene: 110855
  • Gene Overview
    MyGene.info: PDE6C
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr19:38132781-38183955 bp, + strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      51175 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 32.77 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    PDE6C, phosphodiesterase 6C
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PDE6C, phosphodiesterase 6C
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ACHM5, COD4, PDEA2
  • Links
    NCBI Gene ID: 5146
    neXtProt AC: NX_P51160
    UniProt: P51160

  • Chr Location
    10q23.33; chr10:93612588-93665673 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 4521
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: PDE6C
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Pde6c mouse models; 1 with human PDE6C 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
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 1 allele in 2 genetic backgrounds
    23 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.
A spontaneous mutation in this gene results in abnormal cone photoreceptor function.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 110855 NCBI Gene Model | MGI Sequence Detail 51175 C57BL/6J ±  kb
    transcript NM_033614 RefSeq | MGI Sequence Detail 2967 C57BL/6  
    polypeptide Q91ZQ1 UniProt | EBI | MGI Sequence Detail 861 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      269 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000012480 cone 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
      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
    Molecular
    Reagents
    less
    • All nucleic 8
      cDNA 7
      Primer pair 1

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-33635, MGI:1890403
    References
    more
    • Summaries
      All 52
      Developmental Gene Expression 7
      Diseases 2
      Gene Ontology 6
      Phenotypes 23
    • Earliest
      J:75095 Chang B, et al., Retinal degeneration mutants in the mouse. Vision Res. 2002 Feb;42(4):517-25
    • Latest
      J:256237 Tikidji-Hamburyan A, et al., Rods progressively escape saturation to drive visual responses in daylight conditions. Nat Commun. 2017 Nov 27;8(1):1813

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    06/12/2018
    MGI 6.12
    The Jackson Laboratory