Gene table of RGR : retinal G protein coupled receptor

Gene-disease associations table

Disease ID	Disease name	Source of annotation with RGR	OMIM link	Number of associated genes	genes
PS268000	RETINITIS PIGMENTOSA	ClinVar, OMIM, HUMSAVAR	link to OMIM	69	PDE6A, MAK, FSCN2, DHDDS, RHO, RP9, CNGA1, CRB1, SLC7A14, BEST1, CERKL, PRPF3, C8orf37, PROM1, TOPORS, PRPH2, PRCD, SNRNP200, IMPG2, PDE6B, IDH3B, RGR, TTC8, GUCA1B, CDHR1, PANK2, RDH12, BBS2, MERTK, RP1L1, NEK2, USH2A, ZNF408, LRAT, C2orf71, MYO7A, KLHL7, IMPDH1, ZNF513, RP1, NR2E3, PDE6G, ROM1, CYGB, ARL6, NRL, RPGR, PRPF4, RP2, IFT172, HGSNAT, TULP1, CNGB1, KIZ, EYS, OFD1, RPE65, PRPF6, FAM161A, RBP3, IFT140, PRPF8, ABCA4, CLRN1, PRPF31, SAG, CA4, CRX, SEMA4A

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
Signaling by GPCR	R-HSA-372790	2.68
G alpha (i) signalling events	R-HSA-418594	5.1
Class A/1 (Rhodopsin-like receptors)	R-HSA-373076	4.69
Opsins	R-HSA-419771	9.81
GPCR downstream signaling	R-HSA-388396	3.07
GPCR ligand binding	R-HSA-500792	4.19
Signal Transduction	R-HSA-162582	1.78

Associated GO terms for Molecular function

GO term	GO ID	GO IC
G-protein coupled receptor activity	GO:0004930	2.95
photoreceptor activity	GO:0009881	6.97
signal transducer activity	GO:0004871	2.28
molecular transducer activity	GO:0060089	2.32
transmembrane signaling receptor activity	GO:0004888	2.57
receptor activity	GO:0004872	2.32
protein binding	GO:0005515	0.46
signaling receptor activity	GO:0038023	2.49
transmembrane receptor activity	GO:0099600	2.53
binding	GO:0005488	0.18