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Data summary

Publications : 1001
Phenotypes : 178
Genes : 207
Mutations : 4631
SNVs : 3422
InDels : 1209
Last Update : 22/02/2019

Detailed information for RHO

Basic information

Official symbol	RHO
Official full name	rhodopsin
Location	3q21-q24
Gene type	protein-coding
Synonyms	CSNBAD1\|OPN2\|RP4
Quick links	Entrez ID:6010; HGNC:10012; MIM:180380; Ensembl:ENSG00000163914; HPRD:01584; Vega:OTTHUMG00000159542

GO related

GO term accession	GO term name	Number of reference genes	Number of genes	Expected number	Ratio of enrichment	P-value	Adjusted P-Value
GO:0050953	sensory perception of light stimulus	205	100	2.55	39.21	8.72e-146	1.02e-142
GO:0007601	visual perception	204	99	2.54	39.01	7.39e-144	4.34e-141
GO:0007600	sensory perception	495	103	6.16	16.73	4.54e-105	1.78e-102
GO:0050877	neurological system process	1237	106	15.39	6.89	1.82e-66	5.34e-64
GO:0003008	system process	1695	108	21.09	5.12	1.12e-54	2.63e-52
GO:0060041	retina development in camera-type eye	105	31	1.31	23.73	1.13e-34	1.90e-32
GO:0009583	detection of light stimulus	47	24	0.58	41.05	4.99e-34	7.32e-32
GO:0007423	sensory organ development	436	48	5.42	8.85	3.27e-32	3.84e-30
GO:0009582	detection of abiotic stimulus	83	27	1.03	26.15	1.40e-31	1.49e-29
GO:0001654	eye development	276	39	3.43	11.36	3.01e-30	2.94e-28
GO:0009581	detection of external stimulus	100	27	1.24	21.70	4.42e-29	3.99e-27
GO:0044707	single-multicellular organism process	5612	143	69.81	2.05	9.21e-29	7.72e-27
GO:0032501	multicellular organismal process	5644	143	70.21	2.04	1.83e-28	1.43e-26
GO:0009584	detection of visible light	22	16	0.27	58.46	1.18e-26	7.70e-25
GO:0043010	camera-type eye development	237	33	2.95	11.19	2.13e-25	1.25e-23
GO:0007602	phototransduction	37	18	0.46	39.11	3.11e-25	1.74e-23
GO:0009416	response to light stimulus	203	29	2.53	11.48	1.06e-22	5.41e-21
GO:0051606	detection of stimulus	202	27	2.51	10.74	2.10e-20	9.13e-19
GO:0044699	single-organism process	7682	152	95.57	1.59	9.26e-19	3.88e-17
GO:0009314	response to radiation	319	29	3.97	7.31	3.46e-17	1.35e-15
GO:0007603	phototransduction, visible light	11	9	0.14	65.77	3.15e-16	1.03e-14
GO:0048856	anatomical structure development	4030	102	50.13	2.03	4.19e-16	1.33e-14
GO:0032502	developmental process	4572	104	56.88	1.83	3.53e-13	1.04e-11
GO:0009881	photoreceptor activity	15	6	0.17	35.96	7.98e-09	8.66e-07
GO:0005488	binding	11955	150	132.97	1.13	0.0005	0.0090
GO:0005515	protein binding	7337	102	81.61	1.25	0.0011	0.0149
GO:0005929	cilium	239	55	2.61	21.10	2.59e-58	5.08e-56
GO:0031513	nonmotile primary cilium	80	32	0.87	36.67	1.40e-42	1.37e-40
GO:0072372	primary cilium	96	33	1.05	31.52	2.93e-41	1.91e-39
GO:0044441	cilium part	110	29	1.20	24.17	1.90e-32	9.31e-31
GO:0042995	cell projection	1230	67	13.42	4.99	5.15e-30	2.02e-28
GO:0001750	photoreceptor outer segment	37	19	0.40	47.08	3.03e-28	9.90e-27
GO:0044463	cell projection part	639	42	6.97	6.03	2.11e-21	5.17e-20
GO:0001917	photoreceptor inner segment	20	10	0.22	45.84	3.14e-15	5.13e-14
GO:0042622	photoreceptor outer segment membrane	8	6	0.09	68.76	4.27e-11	5.98e-10
GO:0044459	plasma membrane part	1918	41	20.92	1.96	1.68e-05	9.98e-05

Pathway related

Term	Surce	Number of reference genes	Number of genes	Expected number	Ratio of enrichment	P-value	Adjusted P-value
Visual signal transduction: Rods	Pathway commons	24	17	0.11	157.47	2.08e-35	2.14e-33
Opsins	Pathway commons	6	3	0.03	111.15	1.77e-06	2.03e-05
G alpha (i) signalling events	Pathway commons	32	4	0.14	27.79	1.29e-05	0.0001
Phototransduction	KEGG	29	12	0.13	91.99	2.36e-21	5.66e-20

PPI related

ID	Number of reference genes	Number of genes	Expected number	Ratio of enrichment	P-value	Adjusted P-value
Hsapiens_Module_143	12	3	0.12	24.34	0.0002	0.0021
Hsapiens_Module_26	697	16	7.16	2.24	0.0022	0.0114

OMIM related

chromosome	begin	end	disorder MIM number	disorder	phene mapping key	gene/locus MIM number	cytogenetic loaction
chr3	129246481	129255187	610445	"Night blindness, congenital stationary, autosomal dominant 1"	3	180380	3q22.1
chr3	129246481	129255187	613731	"Retinitis pigmentosa 4, autosomal dominant or recessive"	3	180380	3q22.1
chr3	129246481	129255187	136880	Retinitis punctata albescens	3	180380	3q22.1

MGI related

chromosome	begin	end	gene ID	gene symbol of mouse	MGI	MP	phenotype description
chr3	129246481	129255187	6010	Rho	MGI:97914	MP:0001186	pigmentation phenotype
chr3	129246481	129255187	6010	Rho	MGI:97914	MP:0003012	no phenotypic analysis
chr3	129246481	129255187	6010	Rho	MGI:97914	MP:0003631	nervous system phenotype
chr3	129246481	129255187	6010	Rho	MGI:97914	MP:0005376	homeostasis/metabolism phenotype
chr3	129246481	129255187	6010	Rho	MGI:97914	MP:0005384	cellular phenotype
chr3	129246481	129255187	6010	Rho	MGI:97914	MP:0005385	cardiovascular system phenotype
chr3	129246481	129255187	6010	Rho	MGI:97914	MP:0005391	vision/eye phenotype

Mutation spectrum

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Gene-disease network

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