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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
Location & Maps
more
  • Sequence Map
    Chr19:38132781-38183947 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      51167 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
  • Synonyms
    ACHM5, COD4, PDEA2
  • Links
    NCBI Gene ID: 5146
    neXtProt AC: NX_P51160

  • Chr Location
    10q24; chr10:93612588-93665673 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 4521
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • 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
       Achromatopsia 2; ACHM2   OMIM: 216900 View 1 model
       Cone Dystrophy 4; COD4   OMIM: 613093
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
    17 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
    4
  • Spontaneous
    1
  • Targeted
    3
  • Incidental Mutations
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
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 ENSMUSG00000024992 Ensembl Gene Model | MGI Sequence Detail 51167 C57BL/6J ±  kb
transcript ENSMUST00000025956 Ensembl | MGI Sequence Detail 2959 Not Applicable  
polypeptide ENSMUSP00000025956 Ensembl | 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
    IPR023174 3'5'-cyclic nucleotide phosphodiesterase, conserved site
    IPR003018 GAF domain
    IPR029016 GAF domain-like
    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 44
    Developmental Gene Expression 7
    Diseases 2
    Gene Ontology 6
    Phenotypes 17
  • Earliest
    J:75095 Chang B, et al., Retinal degeneration mutants in the mouse. Vision Res. 2002 Feb;42(4):517-25
  • 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
Citing These Resources
Funding Information
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory