Pde6h Gene Summary [Mouse]

Predicted to enable cGMP binding activity; calmodulin-activated 3',5'-cyclic-GMP phosphodiesterase activity; and calmodulin-activated dual specificity 3',5'-cyclic-GMP, 3',5'-cyclic-AMP phosphodiesterase activity. Acts upstream of or within positive regulation of G protein-coupled receptor signaling pathway; positive regulation of MAPK cascade; and positive regulation of epidermal growth factor receptor signaling pathway. Predicted to be active in photoreceptor outer segment membrane. Is expressed in retina and retina outer nuclear layer. Human ortholog(s) of this gene implicated in retinal cone dystrophy 3A. Orthologous to human PDE6H (phosphodiesterase 6H). [provided by Alliance of Genome Resources, Apr 2025]

Details

Type
Protein Coding
Official Symbol
Pde6h
Official Name
phosphodiesterase 6H, cGMP-specific, cone, gamma [Source:MGI Symbol;Acc:MGI:1925850]
Ensembl ID
ENSMUSG00000064330
Bio databases IDs NCBI: 78600 Ensembl: ENSMUSG00000064330
Aliases phosphodiesterase 6H, cGMP-specific, cone, gamma
Synonyms A930033D18Rik, ACHM6, Pde6g, PDEgamma, phosphodiesterase 6H, phosphodiesterase 6H, cGMP-specific, cone, gamma, phosphodiesterase 6H, cGMP-specific, cone, γ, RCD3
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Pde6h often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • enzyme inhibitor activity
  • Retinal cGMP phosphodiesterase, gamma subunit
  • enzyme
  • protein binding

Pathways

Biological processes and signaling networks where the Pde6h gene in mouse plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • Huntington disease
  • retinal cone dystrophy 3A
  • achromatopsia
  • retinal dystrophy
regulated by
regulates

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Pde6h gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • positive regulation of epidermal growth factor receptor signaling pathway
  • positive regulation of MAPK cascade
  • visual perception
  • positive regulation of G-protein coupled receptor protein signaling pathway

Cellular Component

Where in the cell the gene product is active
  • photoreceptor outer segment membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • enzyme inhibitor activity
  • 3',5'-cyclic-GMP phosphodiesterase activity
  • cGMP binding

Gene-Specific Assays for Results You Can Trust

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