Gene

pde6ha

ID
ZDB-GENE-040426-1754
Name
phosphodiesterase 6H, cGMP-specific, cone, gamma, paralog a
Symbol
pde6ha Nomenclature History
Previous Names
  • pde6h
  • zgc:73310
Type
protein_coding_gene
Location
Chr: 6 Mapping Details/Browsers
Description
Predicted to have 3',5'-cyclic-GMP phosphodiesterase activity and cGMP binding activity. Predicted to be involved in activation of MAPK activity; positive regulation of G protein-coupled receptor signaling pathway; and positive regulation of epidermal growth factor receptor signaling pathway. Predicted to localize to photoreceptor outer segment membrane. Is expressed in eye; retina; and retinal cone cell. Orthologous to human PDE6H (phosphodiesterase 6H).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
11 figures from 8 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With pde6ha Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
retinal cone dystrophy 3A Alliance Achromatopsia 6 610024
retinal cone dystrophy 3A Alliance Retinal cone dystrophy 3 610024
Associated With pde6ha Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR006952 Retinal cGMP phosphodiesterase, gamma subunit
Homologous_superfamily IPR037030 Retinal cGMP phosphodiesterase, gamma subunit superfamily
Domain Details Per Protein
Protein Length Retinal cGMP phosphodiesterase, gamma subunit Retinal cGMP phosphodiesterase, gamma subunit superfamily
UniProtKB:Q6PBP4 73
Transcripts
Genome Browsers
No data available
No data available
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations