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GNAT1 (G protein subunit alpha transducin 1)

Gene

2779

G protein subunit alpha transducin 1

GNAT1

CSNB1G, CSNBAD3, GBT1, GNATR, HG1F

3p21.31

Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene

Show/Hide all(6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893740	G>A	Pathogenic	Missense variant, coding sequence variant
rs774214573	C>A,T	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant
rs786205853	C>G	Pathogenic	Missense variant, coding sequence variant
rs786205854	A>G	Pathogenic	Missense variant, coding sequence variant
rs1293620319	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs1575415957	C>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(274)

miRTarBase ID	miRNA	Experiments	Reference
MIRT682021	hsa-miR-548an	HITS-CLIP	23706177
MIRT682020	hsa-miR-3714	HITS-CLIP	23706177
MIRT540847	hsa-miR-15a-5p	HITS-CLIP	23706177
MIRT540846	hsa-miR-15b-5p	HITS-CLIP	23706177
MIRT540845	hsa-miR-16-5p	HITS-CLIP	23706177
MIRT540844	hsa-miR-195-5p	HITS-CLIP	23706177
MIRT540843	hsa-miR-424-5p	HITS-CLIP	23706177
MIRT540842	hsa-miR-497-5p	HITS-CLIP	23706177
MIRT540841	hsa-miR-6838-5p	HITS-CLIP	23706177
MIRT540840	hsa-miR-503-5p	HITS-CLIP	23706177
MIRT540839	hsa-miR-646	HITS-CLIP	23706177
MIRT682019	hsa-miR-1910-3p	HITS-CLIP	23706177
MIRT682018	hsa-miR-6511a-5p	HITS-CLIP	23706177
MIRT540838	hsa-miR-4310	HITS-CLIP	23706177
MIRT540837	hsa-miR-7157-5p	HITS-CLIP	23706177
MIRT540836	hsa-miR-103b	HITS-CLIP	23706177
MIRT540835	hsa-miR-4716-5p	HITS-CLIP	23706177
MIRT540834	hsa-miR-103a-3p	HITS-CLIP	23706177
MIRT540833	hsa-miR-107	HITS-CLIP	23706177
MIRT540832	hsa-miR-1206	HITS-CLIP	23706177
MIRT540831	hsa-miR-6853-3p	HITS-CLIP	23706177
MIRT540830	hsa-miR-4524a-5p	HITS-CLIP	23706177
MIRT540829	hsa-miR-4524b-5p	HITS-CLIP	23706177
MIRT540828	hsa-miR-4662a-5p	HITS-CLIP	23706177
MIRT540827	hsa-miR-513b-5p	HITS-CLIP	23706177
MIRT540826	hsa-miR-376a-3p	HITS-CLIP	23706177
MIRT540825	hsa-miR-376b-3p	HITS-CLIP	23706177
MIRT682017	hsa-let-7c-3p	HITS-CLIP	23706177
MIRT682016	hsa-let-7a-2-3p	HITS-CLIP	23706177
MIRT682015	hsa-let-7g-3p	HITS-CLIP	23706177
MIRT682014	hsa-miR-493-5p	HITS-CLIP	23706177
MIRT540847	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT540846	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT540845	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT540844	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT540843	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT540842	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT540841	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT540840	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT540839	hsa-miR-646	PAR-CLIP	21572407
MIRT540838	hsa-miR-4310	PAR-CLIP	21572407
MIRT540837	hsa-miR-7157-5p	PAR-CLIP	21572407
MIRT540836	hsa-miR-103b	PAR-CLIP	21572407
MIRT540835	hsa-miR-4716-5p	PAR-CLIP	21572407
MIRT540834	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT540833	hsa-miR-107	PAR-CLIP	21572407
MIRT540832	hsa-miR-1206	PAR-CLIP	21572407
MIRT540831	hsa-miR-6853-3p	PAR-CLIP	21572407
MIRT540830	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT540829	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT540828	hsa-miR-4662a-5p	PAR-CLIP	21572407
MIRT540827	hsa-miR-513b-5p	PAR-CLIP	21572407
MIRT540826	hsa-miR-376a-3p	PAR-CLIP	21572407
MIRT540825	hsa-miR-376b-3p	PAR-CLIP	21572407
MIRT682021	hsa-miR-548an	HITS-CLIP	23706177
MIRT682020	hsa-miR-3714	HITS-CLIP	23706177
MIRT540847	hsa-miR-15a-5p	HITS-CLIP	23706177
MIRT540846	hsa-miR-15b-5p	HITS-CLIP	23706177
MIRT540845	hsa-miR-16-5p	HITS-CLIP	23706177
MIRT540844	hsa-miR-195-5p	HITS-CLIP	23706177
MIRT540843	hsa-miR-424-5p	HITS-CLIP	23706177
MIRT540842	hsa-miR-497-5p	HITS-CLIP	23706177
MIRT540841	hsa-miR-6838-5p	HITS-CLIP	23706177
MIRT540840	hsa-miR-503-5p	HITS-CLIP	23706177
MIRT540839	hsa-miR-646	HITS-CLIP	23706177
MIRT682019	hsa-miR-1910-3p	HITS-CLIP	23706177
MIRT682018	hsa-miR-6511a-5p	HITS-CLIP	23706177
MIRT540838	hsa-miR-4310	HITS-CLIP	23706177
MIRT540837	hsa-miR-7157-5p	HITS-CLIP	23706177
MIRT540836	hsa-miR-103b	HITS-CLIP	23706177
MIRT540835	hsa-miR-4716-5p	HITS-CLIP	23706177
MIRT540834	hsa-miR-103a-3p	HITS-CLIP	23706177
MIRT540833	hsa-miR-107	HITS-CLIP	23706177
MIRT540832	hsa-miR-1206	HITS-CLIP	23706177
MIRT540831	hsa-miR-6853-3p	HITS-CLIP	23706177
MIRT540830	hsa-miR-4524a-5p	HITS-CLIP	23706177
MIRT540829	hsa-miR-4524b-5p	HITS-CLIP	23706177
MIRT540828	hsa-miR-4662a-5p	HITS-CLIP	23706177
MIRT540827	hsa-miR-513b-5p	HITS-CLIP	23706177
MIRT540826	hsa-miR-376a-3p	HITS-CLIP	23706177
MIRT540825	hsa-miR-376b-3p	HITS-CLIP	23706177
MIRT682017	hsa-let-7c-3p	HITS-CLIP	23706177
MIRT682016	hsa-let-7a-2-3p	HITS-CLIP	23706177
MIRT682015	hsa-let-7g-3p	HITS-CLIP	23706177
MIRT682014	hsa-miR-493-5p	HITS-CLIP	23706177
MIRT540847	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT540846	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT540845	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT540844	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT540843	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT540842	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT540841	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT540840	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT540839	hsa-miR-646	PAR-CLIP	21572407
MIRT540838	hsa-miR-4310	PAR-CLIP	21572407
MIRT540837	hsa-miR-7157-5p	PAR-CLIP	21572407
MIRT540836	hsa-miR-103b	PAR-CLIP	21572407
MIRT540835	hsa-miR-4716-5p	PAR-CLIP	21572407
MIRT540834	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT540833	hsa-miR-107	PAR-CLIP	21572407
MIRT540832	hsa-miR-1206	PAR-CLIP	21572407
MIRT540831	hsa-miR-6853-3p	PAR-CLIP	21572407
MIRT540830	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT540829	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT540828	hsa-miR-4662a-5p	PAR-CLIP	21572407
MIRT540827	hsa-miR-513b-5p	PAR-CLIP	21572407
MIRT540826	hsa-miR-376a-3p	PAR-CLIP	21572407
MIRT540825	hsa-miR-376b-3p	PAR-CLIP	21572407
MIRT1023664	hsa-miR-103a	CLIP-seq
MIRT1023665	hsa-miR-1267	CLIP-seq
MIRT1023666	hsa-miR-1273f	CLIP-seq
MIRT1023667	hsa-miR-1290	CLIP-seq
MIRT1023668	hsa-miR-1298	CLIP-seq
MIRT1023669	hsa-miR-1322	CLIP-seq
MIRT1023670	hsa-miR-15a	CLIP-seq
MIRT1023671	hsa-miR-15b	CLIP-seq
MIRT1023672	hsa-miR-16	CLIP-seq
MIRT1023673	hsa-miR-181a	CLIP-seq
MIRT1023674	hsa-miR-181b	CLIP-seq
MIRT1023675	hsa-miR-181c	CLIP-seq
MIRT1023676	hsa-miR-181d	CLIP-seq
MIRT1023677	hsa-miR-195	CLIP-seq
MIRT1023678	hsa-miR-2278	CLIP-seq
MIRT1023679	hsa-miR-23a	CLIP-seq
MIRT1023680	hsa-miR-23b	CLIP-seq
MIRT1023681	hsa-miR-23c	CLIP-seq
MIRT1023682	hsa-miR-3128	CLIP-seq
MIRT1023683	hsa-miR-3145-3p	CLIP-seq
MIRT1023684	hsa-miR-3167	CLIP-seq
MIRT1023685	hsa-miR-3613-3p	CLIP-seq
MIRT1023686	hsa-miR-3617	CLIP-seq
MIRT1023687	hsa-miR-376a	CLIP-seq
MIRT1023688	hsa-miR-376b	CLIP-seq
MIRT1023689	hsa-miR-3976	CLIP-seq
MIRT1023690	hsa-miR-424	CLIP-seq
MIRT1023691	hsa-miR-4262	CLIP-seq
MIRT1023692	hsa-miR-4274	CLIP-seq
MIRT1023693	hsa-miR-4470	CLIP-seq
MIRT1023694	hsa-miR-4524	CLIP-seq
MIRT1023695	hsa-miR-4635	CLIP-seq
MIRT1023696	hsa-miR-4639-5p	CLIP-seq
MIRT1023697	hsa-miR-4668-3p	CLIP-seq
MIRT1023698	hsa-miR-4676-5p	CLIP-seq
MIRT1023699	hsa-miR-4684-3p	CLIP-seq
MIRT1023700	hsa-miR-4704-3p	CLIP-seq
MIRT1023701	hsa-miR-4709-3p	CLIP-seq
MIRT1023702	hsa-miR-497	CLIP-seq
MIRT1023703	hsa-miR-503	CLIP-seq
MIRT1023704	hsa-miR-513b	CLIP-seq
MIRT1023705	hsa-miR-518a-5p	CLIP-seq
MIRT1023706	hsa-miR-527	CLIP-seq
MIRT1023707	hsa-miR-548a-3p	CLIP-seq
MIRT1023708	hsa-miR-548c-3p	CLIP-seq
MIRT1023709	hsa-miR-548e	CLIP-seq
MIRT1023710	hsa-miR-548f	CLIP-seq
MIRT1023711	hsa-miR-575	CLIP-seq
MIRT1023712	hsa-miR-605	CLIP-seq
MIRT1023713	hsa-miR-641	CLIP-seq
MIRT1023714	hsa-miR-876-5p	CLIP-seq
MIRT1023664	hsa-miR-103a	CLIP-seq
MIRT1023715	hsa-miR-1266	CLIP-seq
MIRT1023716	hsa-miR-134	CLIP-seq
MIRT1023717	hsa-miR-148a	CLIP-seq
MIRT1023718	hsa-miR-148b	CLIP-seq
MIRT1023719	hsa-miR-152	CLIP-seq
MIRT1023670	hsa-miR-15a	CLIP-seq
MIRT1023671	hsa-miR-15b	CLIP-seq
MIRT1023672	hsa-miR-16	CLIP-seq
MIRT1023720	hsa-miR-1825	CLIP-seq
MIRT1023677	hsa-miR-195	CLIP-seq
MIRT1023721	hsa-miR-1972	CLIP-seq
MIRT1023722	hsa-miR-204	CLIP-seq
MIRT1023723	hsa-miR-211	CLIP-seq
MIRT1023724	hsa-miR-299-3p	CLIP-seq
MIRT1023725	hsa-miR-3065-5p	CLIP-seq
MIRT1023726	hsa-miR-3118	CLIP-seq
MIRT1023727	hsa-miR-3121-5p	CLIP-seq
MIRT1023728	hsa-miR-3126-5p	CLIP-seq
MIRT1023729	hsa-miR-3136-5p	CLIP-seq
MIRT1023730	hsa-miR-3151	CLIP-seq
MIRT1023731	hsa-miR-3192	CLIP-seq
MIRT1023732	hsa-miR-3664-3p	CLIP-seq
MIRT1023733	hsa-miR-3689a-3p	CLIP-seq
MIRT1023734	hsa-miR-3689c	CLIP-seq
MIRT1023687	hsa-miR-376a	CLIP-seq
MIRT1023688	hsa-miR-376b	CLIP-seq
MIRT1023735	hsa-miR-3944-5p	CLIP-seq
MIRT1023690	hsa-miR-424	CLIP-seq
MIRT1023736	hsa-miR-4439	CLIP-seq
MIRT1023737	hsa-miR-4446-5p	CLIP-seq
MIRT1023738	hsa-miR-4447	CLIP-seq
MIRT1023739	hsa-miR-4452	CLIP-seq
MIRT1023740	hsa-miR-4462	CLIP-seq
MIRT1023741	hsa-miR-4472	CLIP-seq
MIRT1023742	hsa-miR-4488	CLIP-seq
MIRT1023743	hsa-miR-4491	CLIP-seq
MIRT1023744	hsa-miR-4513	CLIP-seq
MIRT1023745	hsa-miR-4518	CLIP-seq
MIRT1023694	hsa-miR-4524	CLIP-seq
MIRT1023746	hsa-miR-4657	CLIP-seq
MIRT1023747	hsa-miR-4697-5p	CLIP-seq
MIRT1023700	hsa-miR-4704-3p	CLIP-seq
MIRT1023748	hsa-miR-4728-5p	CLIP-seq
MIRT1023749	hsa-miR-4731-5p	CLIP-seq
MIRT1023750	hsa-miR-4755-5p	CLIP-seq
MIRT1023751	hsa-miR-491-5p	CLIP-seq
MIRT1023702	hsa-miR-497	CLIP-seq
MIRT1023703	hsa-miR-503	CLIP-seq
MIRT1023704	hsa-miR-513b	CLIP-seq
MIRT1023752	hsa-miR-623	CLIP-seq
MIRT1023664	hsa-miR-103a	CLIP-seq
MIRT2236357	hsa-miR-1289	CLIP-seq
MIRT1023669	hsa-miR-1322	CLIP-seq
MIRT1023670	hsa-miR-15a	CLIP-seq
MIRT1023671	hsa-miR-15b	CLIP-seq
MIRT1023672	hsa-miR-16	CLIP-seq
MIRT1023677	hsa-miR-195	CLIP-seq
MIRT2236358	hsa-miR-221	CLIP-seq
MIRT2236359	hsa-miR-222	CLIP-seq
MIRT1023728	hsa-miR-3126-5p	CLIP-seq
MIRT2236360	hsa-miR-3146	CLIP-seq
MIRT1023730	hsa-miR-3151	CLIP-seq
MIRT2236361	hsa-miR-3173-3p	CLIP-seq
MIRT1023731	hsa-miR-3192	CLIP-seq
MIRT2236362	hsa-miR-3612	CLIP-seq
MIRT1023733	hsa-miR-3689a-3p	CLIP-seq
MIRT1023734	hsa-miR-3689c	CLIP-seq
MIRT1023687	hsa-miR-376a	CLIP-seq
MIRT1023688	hsa-miR-376b	CLIP-seq
MIRT2236363	hsa-miR-3915	CLIP-seq
MIRT2236364	hsa-miR-3928	CLIP-seq
MIRT1023690	hsa-miR-424	CLIP-seq
MIRT2236365	hsa-miR-4260	CLIP-seq
MIRT2236366	hsa-miR-4270	CLIP-seq
MIRT2236367	hsa-miR-4419a	CLIP-seq
MIRT2236368	hsa-miR-4441	CLIP-seq
MIRT2236369	hsa-miR-4443	CLIP-seq
MIRT1023738	hsa-miR-4447	CLIP-seq
MIRT1023741	hsa-miR-4472	CLIP-seq
MIRT2236370	hsa-miR-4476	CLIP-seq
MIRT2236371	hsa-miR-4510	CLIP-seq
MIRT1023694	hsa-miR-4524	CLIP-seq
MIRT2236372	hsa-miR-4533	CLIP-seq
MIRT1023696	hsa-miR-4639-5p	CLIP-seq
MIRT2236373	hsa-miR-4640-5p	CLIP-seq
MIRT2236374	hsa-miR-4643	CLIP-seq
MIRT2236375	hsa-miR-466	CLIP-seq
MIRT1023698	hsa-miR-4676-5p	CLIP-seq
MIRT2236376	hsa-miR-4722-3p	CLIP-seq
MIRT2236377	hsa-miR-4726-5p	CLIP-seq
MIRT2236378	hsa-miR-4727-5p	CLIP-seq
MIRT1023748	hsa-miR-4728-5p	CLIP-seq
MIRT1023749	hsa-miR-4731-5p	CLIP-seq
MIRT2236379	hsa-miR-4736	CLIP-seq
MIRT2236380	hsa-miR-4769-3p	CLIP-seq
MIRT2236381	hsa-miR-4779	CLIP-seq
MIRT2236382	hsa-miR-4789-3p	CLIP-seq
MIRT2236383	hsa-miR-485-5p	CLIP-seq
MIRT1023751	hsa-miR-491-5p	CLIP-seq
MIRT1023702	hsa-miR-497	CLIP-seq
MIRT1023703	hsa-miR-503	CLIP-seq
MIRT1023704	hsa-miR-513b	CLIP-seq
MIRT2236384	hsa-miR-548v	CLIP-seq
MIRT1023711	hsa-miR-575	CLIP-seq
MIRT2236385	hsa-miR-650	CLIP-seq
MIRT2236386	hsa-miR-657	CLIP-seq
MIRT1023715	hsa-miR-1266	CLIP-seq
MIRT1023716	hsa-miR-134	CLIP-seq
MIRT1023726	hsa-miR-3118	CLIP-seq
MIRT1023729	hsa-miR-3136-5p	CLIP-seq
MIRT1023736	hsa-miR-4439	CLIP-seq
MIRT1023740	hsa-miR-4462	CLIP-seq
MIRT1023744	hsa-miR-4513	CLIP-seq
MIRT1023745	hsa-miR-4518	CLIP-seq

Show/Hide all(42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000035	Function	Acyl binding	ISS
GO:0001580	Process	Detection of chemical stimulus involved in sensory perception of bitter taste	IEA
GO:0001664	Function	G protein-coupled receptor binding	IBA	21873635
GO:0001750	Component	Photoreceptor outer segment	IDA	2534964
GO:0001917	Component	Photoreceptor inner segment	IDA	2534964
GO:0001973	Process	G protein-coupled adenosine receptor signaling pathway	IBA	21873635
GO:0003924	Function	GTPase activity	IBA	21873635
GO:0003924	Function	GTPase activity	NAS	17584859
GO:0003924	Function	GTPase activity	TAS
GO:0005525	Function	GTP binding	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005834	Component	Heterotrimeric G-protein complex	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0006457	Process	Protein folding	TAS
GO:0007165	Process	Signal transduction	NAS	8673138, 17584859
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007601	Process	Visual perception	TAS	8673138
GO:0007603	Process	Phototransduction, visible light	IMP	17584859
GO:0008283	Process	Cell population proliferation	IEA
GO:0009416	Process	Response to light stimulus	ISS
GO:0009642	Process	Response to light intensity	IEA
GO:0016020	Component	Membrane	ISS
GO:0016020	Component	Membrane	NAS	7822269
GO:0016056	Process	Rhodopsin mediated signaling pathway	TAS
GO:0016324	Component	Apical plasma membrane	IEA
GO:0019003	Function	GDP binding	ISS
GO:0019901	Function	Protein kinase binding	ISS
GO:0022400	Process	Regulation of rhodopsin mediated signaling pathway	TAS
GO:0031683	Function	G-protein beta/gamma-subunit complex binding	IBA	21873635
GO:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0042462	Process	Eye photoreceptor cell development	IEA
GO:0042622	Component	Photoreceptor outer segment membrane	ISS
GO:0043025	Component	Neuronal cell body	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050908	Process	Detection of light stimulus involved in visual perception	IMP	17584859
GO:0050917	Process	Sensory perception of umami taste	IEA
GO:0051343	Process	Positive regulation of cyclic-nucleotide phosphodiesterase activity	IEA
GO:0051344	Process	Negative regulation of cyclic-nucleotide phosphodiesterase activity	ISS
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0071257	Process	Cellular response to electrical stimulus	IEA
GO:0097381	Component	Photoreceptor disc membrane	TAS

MIM	HGNC	e!Ensembl
139330	4393	ENSG00000114349

Protein

UniProt ID

P11488

Protein name

Guanine nucleotide-binding protein G(t) subunit alpha-1 (Transducin alpha-1 chain)

Protein function

Functions as a signal transducer for the rod photoreceptor RHO. Required for normal RHO-mediated light perception by the retina (PubMed:22190596). Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-c

PDB

3RBQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00503	G-alpha	9 → 339	G-protein alpha subunit	Domain

Sequence

MGAGASAEEKHSRELEKKLKEDAEKDARTVKLLLLGAGESGKSTIVKQMKIIHQDGYSLE
ECLEFIAIIYGNTLQSILAIVRAMTTLNIQYGDSARQDDARKLMHMADTIEEGTMPKEMS
DIIQRLWKDSGIQACFERASEYQLNDSAGYYLSDLERLVTPGYVPTEQDVLRSRVKTTGI
IETQFSFKDLNFRMFDVGGQRSERKKWIHCFEGVTCIIFIAALSAYDMVLVEDDEVNRMH
ESLHLFNSICNHRYFATTSIVLFLNKKDVFFEKIKKAHLSICFPDYDGPNTYEDAGNYIK
VQFLELNMRRDVKEIYSHMTCATDTQNVKFVFDAVTDIIIKENLKDCGLF

Sequence length

350

Interactions

View interactions

	KEGG		Reactome
	Phototransduction		PLC beta mediated events G-protein activation Activation of the phototransduction cascade Inactivation, recovery and regulation of the phototransduction cascade G alpha (i) signalling events Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding

Associated diseases

Show/Hide Causal Diseases (3)

Causal
Disease name	Disease term	dbSNP ID	References
Congenital stationary night blindness	Cone-rod synaptic disorder, congenital nonprogressive, Congenital stationary night blindness	rs786205249, rs80338903, rs62638214, rs62638624, rs62638202, rs62638197, rs766862238, rs267607140, rs267607141, rs62638191, rs62638193, rs62637021, rs62637027, rs104894910, rs104894911, rs122456133, rs122456134, rs122456135, rs2147483647, rs104893789, rs104893790, rs104893796, rs121918582, rs104893740, rs80359870, rs387906862, rs786205113, rs772011426, rs281875234, rs794726685, rs387907138, rs773126191, rs770066665, rs794726686, rs397509379, rs397509380, rs61750168, rs281865186, rs281865194, rs150115958, rs786205852, rs786205853, rs786205854, rs778390089, rs869312176, rs879253773, rs879253774, rs886039559, rs886039560, rs886043488, rs1057518829, rs104893793, rs1553186509, rs61751398, rs781463257, rs531851447, rs770380556, rs748046539, rs1555418784, rs1555424166, rs781610444, rs1555424849, rs1555966753, rs1555967281, rs1557106008, rs1557107192, rs1557107417, rs1557108147, rs1557109796, rs1557109912, rs1557110046, rs1557110192, rs1557110499, rs1557110988, rs372529012, rs374913800, rs1410075831, rs766780281, rs1555967031, rs1566945534, rs777989874, rs782581701, rs1485132228, rs1567728372, rs1567725425, rs150441866, rs1358925739, rs779821510, rs1590998813, rs1594580431, rs777168556, rs763546583, rs1290420698, rs765645888, rs1596029830, rs1602180478, rs1602180791, rs1602181006, rs1602181043, rs1602181253, rs1602627593, rs782740998, rs1602630650, rs1602639607, rs1602641426, rs1602644716, rs1602658505, rs1602628429, rs2065841382, rs1596017653, rs769355168, rs1578278438, rs984572250, rs775166854, rs2065717735
Myopia	Severe myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Show/Hide Unknown Diseases (7)

Unknown
Disease name	Disease term	dbSNP ID	References
Disorder of eye	Disorder of eye
Hypoplasia of optic disc	Hypoplasia of optic disc
Night blindness	Night blindness, congenital stationary, NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A, NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B, Night Blindness, Congenital Stationary, Autosomal Dominant 3, NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder), Night Blindness, Congenital Stationary, Type 1A, Night blindness, congenital stationary, type 1		22190596, 8673138, 17584859, 8673138
Night blindness, congenital stationary	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G		22190596
Nyctalopia	Nyctalopia
Strabismus	Strabismus
Congenital stationary night blindness, x-linked	X-Linked Csnb	rs201620180, rs762960396

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