Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:Retinal_guanylyl_cyclase_1
gptkb:ROS-GC1 gptkb:RetGC-1 |
| gptkbp:associatedWith |
gptkb:Leber_congenital_amaurosis
gptkb:cone-rod_dystrophy |
| gptkbp:encodes |
guanylate cyclase 2D, retinal
|
| gptkbp:Entrez_Gene_ID |
2978
|
| gptkbp:expressedIn |
retina
|
| gptkbp:foundIn |
gptkb:Homo_sapiens
|
| gptkbp:function |
catalyzes conversion of GTP to cGMP
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
4686
|
| https://www.w3.org/2000/01/rdf-schema#label |
GUCY2D
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_17
17p13.1 |
| gptkbp:mutationAssociatedWith |
gptkb:autosomal_recessive_Leber_congenital_amaurosis
autosomal dominant cone-rod dystrophy |
| gptkbp:OMIM |
600179
|
| gptkbp:orthologInMouse |
gptkb:Gucy2e
|
| gptkbp:proteinFamily |
gptkb:guanylate_cyclase_family
|
| gptkbp:UniProtID |
gptkb:Q02846
|
| gptkbp:bfsParent |
gptkb:chromosome_17
|
| gptkbp:bfsLayer |
6
|