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
Stringency:
Additional filters to further constrain the results:
Species Gene symbol Count Best Best reverse
Method
Ensembl ComparaHGNCHieranoidInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidXenbaseZFIN
Mus musculusPde6h10 of 10YesYes  
Rattus norvegicusPde6h10 of 10YesYes  
Xenopus laevispde6h.L1 of 1YesYes           
Xenopus laevispde6h.S1 of 1YesYes           
Xenopus tropicalispde6h7 of 9YesYes   
Danio reriopde6ga3 of 10YesYes  
Danio reriopde6ha1 of 10NoYes  
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Gene symbolRank Alignment Length (aa) Similarity %Identity %Method Count
Method
Ensembl ComparaHGNCInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidSGD
PDE6G16999945 of 8  

Function - GO Annotations

No function available for that gene

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
Abnormal light-adapted flicker electroretinogram
Abnormal macular morphology
Abnormal pupillary light reflex
Abnormality of refraction
Absent foveal reflex
Attenuation of retinal blood vessels
Autosomal dominant inheritance
Autosomal recessive inheritance
Central scotoma
Color vision defect
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Disease Associations

Cases where the expected disease association was NOT found
all annotationsall disease by infectious agentbacterial infectious diseasefungal infectious diseaseparasitic infectious diseaseviral infectious diseaseall disease of anatomical entitycardiovascular system diseasecentral nervous system diseaseendocrine system diseasegastrointestinal system diseasehematopoietic system diseaseimmune system diseaseintegumentary system diseasemusculoskeletal system diseaseperipheral nervous system diseasereproductive system diseaserespiratory system diseasesensory system diseasethoracic diseaseurinary system diseaseall disease of cellular proliferationbenign neoplasmcancerpre-malignant neoplasmall genetic diseasechromosomal diseasemonogenic diseasepolygenic diseaseall other diseasedisease of mental healthdisease of metabolismphysical disordersyndrome
PDE6H (Hsa)
Cell color indicative of annotation volume
Gene
Association
Disease Qualifier
Disease
Evidence
Source
Based On
References
PDE6H
is implicated inretinal cone dystrophy 3A
  • IAGP
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    Alleles and Variants

    Genome location
    Assembly version
    GRCh38
    Viewer Help
    14.974M14.975M14.976M14.977M14.978M14.979M14.980M14.981M
    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
    NC_000012.12:g.14979229C>Gvariant
    SNP
    • intron variant
    NC_000012.12:g.14981381C>Gvariant
    SNP
    • intron variant
    NC_000012.12:g.14978065C>Tvariant
    SNP
    • missense variant
    NC_000012.12:g.14978111A>Gvariant
    SNP
    • synonymous variant
    NC_000012.12:g.14979175A>Gvariant
    SNP
    • splice region variant
    NC_000012.12:g.14981464T>Cvariant
    SNP
    • synonymous variant
    NC_000012.12:g.14979174C>Tvariant
    SNP
    • splice region variant
    NC_000012.12:g.14978044C>Tvariant
    SNP
    • missense variant
    NC_000012.12:g.14981400A>Gvariant
    SNP
    • missense variant
    NC_000012.12:g.14981452G>Avariant
    SNP
    • synonymous variant
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    Transgenic Alleles

    No data available

    Models

    No data available

    Sequence Feature Viewer

    Genome location
    Assembly version
    GRCh38
    Viewer Help
    14.974M14.975M14.976M14.977M14.978M14.979M14.980M14.981MENST00000266395.3 (PDE6H)NM_006205.3 (PDE6H)

    Sequence Details

    Loading...

    Expression

    Primary Sources
    None
    Other Sources
    all annotationsall anatomical structuresalimentary part of gastrointestinal systemchemosensory systemcirculatory systemendocrine systemexocrine systemhemolymphoid systemhepatobiliary systemintegumental systemmechanosensory systemmusculoskeletal systemnervous systemrenal systemreproductive systemrespiratory systemsensory systemvestibulo-auditory systemvisual systemendodermectodermmesodermmesenchymeadipose tissueappendageentire extraembryonic componentimaginal precursorpharyngeal archotherall stagesembryo stagepost embryonic, pre-adultpost-juvenile adult stageall cellular componentsextracellular regionplasma membranesynapsecell junctioncell projectioncytoplasmic vesicleendosomevacuolegolgi apparatusendoplasmic reticulumcytosolmitochondrionnucleuschromosomecytoskeletonprotein-containing complexother locations
    PDE6H (Hsa)
    Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

    Molecular Interactions

    14 interactor genes based on 20 annotations
    PDE6H molecule type
    Interactor gene
    Interactor species
    Interactor molecule type
    Detection methods
    Source
    Reference
    protein
    AGTR1Homo sapiens
    protein
    • two hybrid
    PMID:25416956
    protein
    APPHomo sapiens
    protein
    • pull down
    PMID:21832049
    protein
    CHATHomo sapiens
    protein
    • two hybrid array
    PMID:32814053
    protein
    CHATHomo sapiens
    protein
    • two hybrid pooling approach
    PMID:32814053
    protein
    CHATHomo sapiens
    protein
    • validated two hybrid
    PMID:32814053
    protein
    COTL1Homo sapiens
    protein
    • two hybrid
    PMID:25416956
    protein
    CYLDHomo sapiens
    protein
    • affinity chromatography technology
    PMID:27591049
    protein
    FGFR3Homo sapiens
    protein
    • two hybrid array
    PMID:32814053
    protein
    FGFR3Homo sapiens
    protein
    • two hybrid pooling approach
    PMID:32814053
    protein
    FGFR3Homo sapiens
    protein
    • validated two hybrid
    PMID:32814053
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    Genetic Interactions

    No data available