Gene

PDE6H

Species
Homo sapiens
Symbol
PDE6H
Name
phosphodiesterase 6H
Synonyms
  • ACHM6
  • GMP-PDE gamma
Biotype
protein coding gene
Automated Description
Predicted to enable enzyme inhibitor activity. Predicted to be involved in positive regulation of G protein-coupled receptor signaling pathway and positive regulation of epidermal growth factor receptor signaling pathway. Predicted to act upstream of or within positive regulation of MAPK cascade. Predicted to be active in photoreceptor outer segment membrane. Implicated in retinal cone dystrophy 3A.
RGD Description
This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). [provided by RefSeq, Mar 2010]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR12122
No data available
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
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      Alleles and Variants

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        Transgenic Alleles

        Species
        (carrying the transgene)
        Allele symbol
        Transgenic construct
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          Models

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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCh38
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            14.974M14.975M14.976M14.977M14.978M14.979M14.980M14.981M

            Sequence Details

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            Expression

            Primary Sources
            None
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            PDE6H molecule type
            Interactor gene
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              Genetic Interactions

              PDE6H role
              PDE6H genetic perturbation
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