Gene table of GUCY2D : guanylate cyclase 2D, retinal

Gene-disease associations table

Disease ID	Disease name	Source of annotation with GUCY2D	OMIM link	Number of associated genes	genes
601777	CONE-ROD DYSTROPHY 6	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	GUCY2D
PS204000	LEBER CONGENITAL AMAUROSIS	ClinVar, OMIM, HUMSAVAR	link to OMIM	19	TULP1, PRPH2, LRAT, SPATA7, CEP290, RDH12, RPE65, CRX, GDF6, GUCY2D, ROM1, IMPDH1, KCNJ13, RD3, NMNAT1, LCA5, RPGRIP1, CRB1, AIPL1

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
The phototransduction cascade	R-HSA-2514856	8.03
Visual phototransduction	R-HSA-2187338	6.44
Signal Transduction	R-HSA-162582	1.78
Inactivation, recovery and regulation of the phototransduction cascade	R-HSA-2514859	8.08

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
adenylate cyclase activity	GO:0004016	6.74
molecular transducer activity	GO:0060089	2.32
binding	GO:0005488	0.18
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
carbohydrate derivative binding	GO:0097367	2.03
lyase activity	GO:0016829	4.53
phosphorus-oxygen lyase activity	GO:0016849	6.6
ribonucleoside binding	GO:0032549	2.22
nucleotide binding	GO:0000166	1.96
guanyl ribonucleotide binding	GO:0032561	3.73
transferase activity	GO:0016740	1.95
purine nucleoside binding	GO:0001883	2.22
protein kinase activity	GO:0004672	3.27
purine nucleotide binding	GO:0017076	2.19
ATP binding	GO:0005524	2.43
GTP binding	GO:0005525	3.78
guanylate cyclase activity	GO:0004383	7.54
kinase activity	GO:0016301	2.93
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
adenyl nucleotide binding	GO:0030554	2.4
cyclase activity	GO:0009975	6.6
organic cyclic compound binding	GO:0097159	1.05
purine ribonucleoside binding	GO:0032550	2.22
guanyl nucleotide binding	GO:0019001	3.73
adenyl ribonucleotide binding	GO:0032559	2.41
protein binding	GO:0005515	0.46
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
purine ribonucleotide binding	GO:0032555	2.2
phosphotransferase activity, alcohol group as acceptor	GO:0016773	3.08
ribonucleotide binding	GO:0032553	2.19
receptor activity	GO:0004872	2.32