Gene

gucy2d

ID
ZDB-GENE-011128-9
Name
guanylate cyclase 2D, retinal
Symbol
gucy2d Nomenclature History
Previous Names
  • gc3 (1)
  • GUCY2d1 (1)
  • RETGC-3 (1)
  • zat
  • zatoichi
Type
protein_coding_gene
Location
Chr: 5 Mapping Details/Browsers
Description
Predicted to enable guanylate cyclase activity and peptide receptor activity. Predicted to be involved in cGMP biosynthetic process and receptor guanylyl cyclase signaling pathway. Predicted to act upstream of or within several processes, including cyclic nucleotide biosynthetic process; protein phosphorylation; 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 head. 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
12 figures from 5 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
3 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With gucy2d 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 gucy2d Via Experimental Models
No data available
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
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 Haem NO binding associated 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:A5PLH7 128
UniProtKB:Q90WX0 287
UniProtKB:A2BFQ0 1176
UniProtKB:A0A2R8RT38 1120
UniProtKB:F1QSL9 1137
UniProtKB:A0A2R8QLK9 1135
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-gc3 polyclonal Rabbit
  • IHC
  • WB
1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations