Gene

gucy2f

ID
ZDB-GENE-011128-7
Name
guanylate cyclase 2F, retinal
Symbol
gucy2f Nomenclature History
Previous Names
  • gc1
  • RETGC-1 (1)
Type
protein_coding_gene
Location
Chr: 15 Mapping Details/Browsers
Description
Enables guanylate cyclase activity. Acts upstream of or within photoreceptor cell outer segment organization and visual perception. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. Is expressed in olfactory epithelium; olfactory receptor cell; retina; and retinal outer nuclear layer. Used to study Leber congenital amaurosis. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 1; choroidal sclerosis; cone-rod dystrophy 6; congenital stationary night blindness; and retinitis pigmentosa. Orthologous to human GUCY2D (guanylate cyclase 2D, retinal).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
8 figures from 6 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from Stiebel-Kalish et al., 2012
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With gucy2f Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
choroidal sclerosis Alliance ?Choroidal dystrophy, central areolar 1 215500
cone-rod dystrophy 6 Alliance Cone-rod dystrophy 6 601777
Leber congenital amaurosis 1 Alliance Leber congenital amaurosis 1 204000
Night blindness, congenital stationary, type 1I 618555
Associated With gucy2f Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR018297 Adenylyl cyclase class-4/guanylyl cyclase, conserved site
Domain IPR000719 Protein kinase domain
Domain IPR001054 Adenylyl cyclase class-3/4/guanylyl cyclase
Domain IPR001245 Serine-threonine/tyrosine-protein kinase, catalytic domain
Domain IPR001828 Receptor, ligand binding region
Homologous_superfamily IPR011009 Protein kinase-like domain superfamily
Homologous_superfamily IPR028082 Periplasmic binding protein-like I
Homologous_superfamily IPR029787 Nucleotide cyclase
Domain Details Per Protein
Protein Length Adenylyl cyclase class-3/4/guanylyl cyclase Adenylyl cyclase class-4/guanylyl cyclase, conserved site Nucleotide cyclase Periplasmic binding protein-like I Protein kinase domain Protein kinase-like domain superfamily Receptor, ligand binding region Serine-threonine/tyrosine-protein kinase, catalytic domain
UniProtKB:F1QWF7 1103
UniProtKB:B3DHF2 1107
UniProtKB:Q90WX2 260
Transcripts
Genome Browsers
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