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Pde6h Gene Detail
Summary
  • Symbol
    Pde6h
  • Name
    phosphodiesterase 6H, cGMP-specific, cone, gamma
  • Synonyms
    A930033D18Rik, PDEgamma
  • Feature Type
    protein coding gene
  • IDs
    MGI:1925850
    NCBI Gene: 78600
Location & Maps
more
  • Sequence Map
    Chr6:136923832-136968865 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      45034 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 66.72 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    PDE6H, phosphodiesterase 6H
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PDE6H, phosphodiesterase 6H
    Orthology source: HomoloGene
  • Synonyms
    ACHM6, RCD3
  • Links
    NCBI Gene ID: 5149
    neXtProt AC: NX_Q13956

  • Chr Location
    12p13; chr12:14973022-14981865 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human PDE6H associations

Human Disease Mouse Models
       Retinal Cone Dystrophy 3A; RCD3A   OMIM: 610024
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    3 phenotype references
Homozygous mutation of this gene does not affect the retina or 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 OTTMUSG00000023391 VEGA Gene Model | MGI Sequence Detail 45034 C57BL/6J ±  kb
transcript OTTMUST00000056777 VEGA | MGI Sequence Detail 5940 Not Applicable  
polypeptide OTTMUSP00000027327 VEGA | MGI Sequence Detail 83 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    596 from dbSNP Build 142
Protein
Information
less
  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000012483 retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
  • EC
  • InterPro Domains
    IPR006952 Retinal cGMP phosphodiesterase, gamma subunit
Molecular
Reagents
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  • All nucleic 9
    cDNA 9

    Microarray probesets 3
References
more
  • Summaries
    All 28
    Developmental Gene Expression 4
    Gene Ontology 4
    Phenotypes 3
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:222177 Brennenstuhl C, et al., Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory. J Biol Chem. 2015 Apr 17;290(16):10242-55

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
06/15/2016
MGI 6.04
The Jackson Laboratory