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

Exhibits guanylate cyclase activity. Involved in photoreceptor cell outer segment organization and visual perception. Predicted to localize to plasma membrane. 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. Is expressed in olfactory epithelium; olfactory receptor cell; retina; and retinal outer nuclear layer. 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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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

Human Disease	Fish	Conditions	Citations
Leber congenital amaurosis	WT + MO2-gucy2f	standard conditions	Stiebel-Kalish et al., 2012
Leber congenital amaurosis	WT + MO1-gucy2f	standard conditions	Stiebel-Kalish et al., 2012

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
Domain	IPR011645	Haem NO binding associated
Family	IPR050401	Cyclic nucleotide synthase
Homologous_superfamily	IPR011009	Protein kinase-like domain superfamily
Homologous_superfamily	IPR028082	Periplasmic binding protein-like I
Homologous_superfamily	IPR029787	Nucleotide cyclase