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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
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:38121220-38172391 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 32.77 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1790 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_105956
 protein coding gene Chr19:38121220-38172406 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025089
 protein coding gene Chr19:37153206-37206552 (+)
A/J MGP_AJ_G0025065
 protein coding gene Chr19:35350945-35402236 (+)
AKR/J MGP_AKRJ_G0025033
 protein coding gene Chr19:36552434-36604868 (+)
BALB/cJ MGP_BALBcJ_G0025063
 protein coding gene Chr19:35459485-35512717 (+)
C3H/HeJ MGP_C3HHeJ_G0024822
 protein coding gene Chr19:36624991-36679428 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025504
 protein coding gene Chr19:38217568-38270786 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022923
 protein coding gene Chr19:34711958-34764490 (+)
CAST/EiJ MGP_CASTEiJ_G0024289
 protein coding gene Chr19:36493699-36546669 (+)
CBA/J MGP_CBAJ_G0024799
 protein coding gene Chr19:39998690-40061807 (+)
DBA/2J MGP_DBA2J_G0024931
 protein coding gene Chr19:35204801-35257762 (+)
FVB/NJ MGP_FVBNJ_G0024892
 protein coding gene Chr19:35017519-35072707 (+)
LP/J MGP_LPJ_G0025017
 protein coding gene Chr19:37250874-37302779 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024923
 protein coding gene Chr19:39781642-39837639 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025562
 protein coding gene Chr19:36651269-36704418 (+)
PWK/PhJ MGP_PWKPhJ_G0024041
 protein coding gene Chr19:35070776-35124126 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023841
 protein coding gene Chr19:35488123-35541242 (+)
WSB/EiJ MGP_WSBEiJ_G0024356
 protein coding gene Chr19:36733839-36790271 (+)



Homology
more
  • Human Ortholog
    PDE6C, phosphodiesterase 6C
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PDE6C, phosphodiesterase 6C
  • Synonyms
    ACHM5, COD4, PDEA2
  • Links
    NCBI Gene ID: 5146
    neXtProt AC: NX_P51160
    UniProt: P51160

  • Chr Location
    10q23.33; chr10:93612537-93666010 (+)  GRCh38
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
less
  • Phenotype Summary
    5 phenotypes from 1 allele in 2 genetic backgrounds
    34 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
less
  • All GO Annotations
    13
  • GO References
    7
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    838
  • Tissues
    101
  • cDNA Data
    8
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 110855 NCBI Gene Model | MGI Sequence Detail 51172 C57BL/6J ±  kb
    transcript NM_033614 RefSeq | MGI Sequence Detail 2964 C57BL/6  
    polypeptide Q91ZQ1 UniProt | EBI | MGI Sequence Detail 861 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000012480 cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'
      (term hierarchy)
    • EC
      3.1.4.35
    • 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
    • GlyGen
      Q91ZQ1 1 site, 1 N-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 10
      cDNA 8
      Primer pair 2

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-33635, MGI:1890403
    References
    more
    • Summaries
      All 67
      Developmental Gene Expression 9
      Diseases 2
      Gene Ontology 7
      Phenotypes 34
    • Earliest
      J:75095 Chang B, et al., Retinal degeneration mutants in the mouse. Vision Res. 2002 Feb;42(4):517-25
    • Latest
      J:354642 Seidemann S, et al., Automated quantification of photoreceptor outer segments in developing and degenerating retinas on microscopy images across scales. Front Mol Neurosci. 2024;17:1398447
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory