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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RHO Gene

protein-coding GIFtS: 66
GCID: GC03P129247

rhodopsin

(Previous names: retinitis pigmentosa 4, autosomal dominant )
(Previous symbol: RP4)

Explore 76 diseases affiliated with
RHO via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Rhodopsin¹		Retinitis Pigmentosa 4, Autosomal Dominant¹
OPN2¹ ² ³ ⁵		Opsin 2, Rod Pigment²
RP4¹ ² ⁵		Opsin-2³
CSNBAD1² ⁵		Opsin-2³

External Ids:	HGNC: 10012¹	Entrez Gene: 6010²	Ensembl: ENSG00000163914⁷	OMIM: 180380⁵	UniProtKB: P08100³

Export aliases for RHO gene to outside databases

Previous GC identifers: GC03P126073 GC03P129884 GC03P130529 GC03P130568 GC03P130730 GC03P126630

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RHO:

Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It

can be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive disorder. In the autosomal

dominant form,which comprises about 25% of total cases, approximately 30% of families have mutations in the gene

encoding the rod photoreceptor-specific protein rhodopsin. This is the transmembrane protein which, when photoexcited,

initiates the visual transduction cascade. Defects in this gene are also one of the causes of congenital stationary

night blindness. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: OPSD_HUMAN, P08100

Function: Photoreceptor required for image-forming vision at low light intensity. Required for photoreceptor cell

viability after birth. Light-induced isomerization of 11-cis to all-trans retinal triggers a conformational change

leading to G-protein activation and release of all-trans retinal

Gene Wiki entry for RHO (Rhodopsin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_005612.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RHO gene promoter:
c-Fos c-Rel AP-1 ATF-2 c-Jun NF-kappaB YY1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RHO promoter sequence

Search SABiosciences Chromatin IP Primers for RHO

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RHO

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q21-q24 Ensembl cytogenetic band: 3q22.1 HGNC cytogenetic band: 3q21-q24

RHO Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RHO gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03P129247: view genomic region (about GC identifiers)

Start:	129,247,482 bp from pter	End:	129,254,187 bp from pter
Size:	6,706 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: OPSD_HUMAN, P08100 (See protein sequence)

Recommended Name: Rhodopsin

Size: 348 amino acids; 38893 Da

Subunit: Homodimer (By similarity)

Subcellular location: Membrane; Multi-pass membrane protein. Note=Synthesized in the inner segment (IS) of rod

photoreceptor cells before vectorial transport to the rod outer segment (OS) photosensory cilia

Secondary accessions: Q16414 Q2M249

Explore the universe of human proteins at neXtProt for RHO: NX_P08100

Post-translational modifications:

Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region¹

Contains one covalently linked retinal chromophore (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P08100

RHO Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000530.1

ENSEMBL proteins:

ENSP00000296271

Reactome Protein details: P08100
Human Recombinant Protein Products:

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	Uscn Proteins for RHO

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001750	photoreceptor outer segment	IDA	11767049
GO:0001917	photoreceptor inner segment	IDA	11767049
GO:0005794	Golgi apparatus	IDA	11767049
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	TAS	8253795

RHO for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for RHO

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

RHO for domains About GeneDecksing

5 InterPro domains/families:

IPR019477 Rhodopsin_N

IPR017452 GPCR_Rhodpsn_7TM

IPR000732 Rhodopsin

IPR001760 Opsin

IPR000276 GPCR_Rhodpsn

Graphical View of Domain Structure for InterPro Entry P08100

ProtoNet protein and cluster: P08100

2 Blocks protein families:

IPB000732 Rhodopsin signature

IPB001760 Opsin

UniProtKB/Swiss-Prot: OPSD_HUMAN, P08100

Similarity: Belongs to the G-protein coupled receptor 1 family. Opsin subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: OPSD_HUMAN, P08100

Function: Photoreceptor required for image-forming vision at low light intensity. Required for photoreceptor cell

viability after birth. Light-induced isomerization of 11-cis to all-trans retinal triggers a conformational change

leading to G-protein activation and release of all-trans retinal

Biophysicochemical properties: Absorption: Abs(max)=495 nm;

Genatlas biochemistry entry for RHO:

rhodopsin,G protein coupled receptor superfamily,visual pigment of the rod cells of retina

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		8/50 QIAGEN miScript miRNA Assays for microRNAs that regulate RHO (see all 50):
		hsa-miR-302d hsa-miR-520e hsa-miR-136 hsa-miR-99b* hsa-miR-106a hsa-miR-4305 hsa-miR-372 hsa-miR-93

		SwitchGear 3'UTR luciferase reporter plasmid: RHO 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RHO (see all 7) OriGene shRNA RFP: RHO OriGene siRNA: RHO
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for RHO

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHO

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004930	G-protein coupled receptor activity	IEA	--
GO:0005515	protein binding	IPI	17693260
GO:0009881	photoreceptor activity	IEA	--
GO:0016918	retinal binding	IEA	--
GO:0046872	metal ion binding	IEA	--

RHO for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for RHO:

Increased gamma-H2AX phosphory

Animal Models:
Mouse knock-outs for RHO: Rho^tm2Jlem Rho^tm1Jlem Rho^tm1Phm Rho^tm1Jhw
7 MGI mutant phenotypes (inferred from 13 alleles) (MGI details for Rho):

cardiovascular system	cellular	homeostasis/metabolism	nervous system	no phenotypic analysis
pigmentation	vision/eye

RHO for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/12 super-pathways (see all 12) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Class A/1 (Rhodopsin-like receptors)

	Class A/1 (Rhodopsin-like receptors)	1.00			G alpha (i) signalling events	0.44
	GPCR ligand binding	0.75			GPCRs, Class A Rhodopsin-like	0.41

Signaling by GPCR

	Signaling by GPCR	1.00			Signal Transduction	0.56
	GPCR downstream signaling	0.89

Retinol metabolism

Retinol metabolism

1.00

Retinol metabolism

0.95

Visual signal transduction- Rods

Visual signal transduction- Rods

1.00

Phototransduction

0.44

Retinoid metabolism and transport

Visual phototransduction

0.74

Diseases associated with visual transduction

0.73

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for RHO

Retinol metabolism

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for RHO

Visual Cycle in Retinal Rods

1 Cell Signaling Technology (CST) Pathway for RHO

Neuroscience

1 GeneGo (Thomson Reuters) Pathway for RHO

Retinol metabolism

4 BioSystems Pathways for RHO

	Integrated Breast Cancer Pathway
	Integrin-mediated cell adhesion
	GPCRs, Class A Rhodopsin-like
	Visual signal transduction- Rods

5/11 Reactome Pathways for RHO (see all 11)

	Diseases associated with visual transduction
	GPCR downstream signaling
	Signaling by GPCR
	The canonical retinoid cycle in rods (twilight vision)
	GPCR ligand binding

1 Kegg Pathway (Kegg details for RHO):

Phototransduction

RHO for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for RHO

STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

5/23 Interacting proteins for RHO (P08100^{1, 3} ENSP00000296271⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 23)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ZFYVE9	O95405¹^,³, ENSP00000287727⁴	EBI-1394177,EBI-296817 I2D: score=1 STRING: ENSP00000287727
GNGT1	P63211³, ENSP00000248572⁴	I2D: score=1 STRING: ENSP00000248572
GRK6	P43250³, ENSP00000377204⁴	I2D: score=1 STRING: ENSP00000377204
GRK1	Q15835³, ENSP00000334876⁴	I2D: score=2 STRING: ENSP00000334876
GRK5	P34947³, ENSP00000376609⁴	I2D: score=2 STRING: ENSP00000376609

About this table

Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006468	protein phosphorylation	IEA	--
GO:0007186	G-protein coupled receptor signaling pathway	TAS	2218504
GO:0007601	visual perception	IEA	--
GO:0007602	phototransduction	--	--
GO:0007603	phototransduction, visible light	TAS	1418997

RHO for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

RHO for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for RHO

10/14 DrugBank Compounds for RHO (see all 14) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
3-[Aminoethylphosphoryl]-[1,2-Di-Palmitoyl]-Sn-Glycerol	--	--	target	--	17139284 17016423 10592235
Alpha-D-Mannose	--	3458-28-4	target	--	17139284 17016423 10592235
Beta-D-Mannose	--	7322-31-8	target	--	17139284 17016423 10592235
Heptane-1,2,3-Triol	--	--	target	--	17139284 17016423 10592235
Hexadecanal	16-Hexadecanal (see all 7)	629-80-1	target	--	17139284 17016423 10592235
Palmitic Acid	1-Hexyldecanoic Acid (see all 11)	57-10-3	target	--	17139284 17016423 10592235
Phosphonoserine	--	--	target	--	17139284 17016423 10592235
Phosphonothreonine	--	--	target	--	17139284 17016423 10592235
Halothane	2-Bromo-2-Chloro-1,1,1-Trifluoroethane (see all 14)	151-67-7	target	other	11157886 10913255
(Hydroxyethyloxy)Tri(Ethyloxy)Octane	--	--	target	--	10592235

10/84 Novoseek chemical compound relationships for RHO gene (see all 84) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
metarhodopsin ii	96.3	232	8446607 (5), 8001180 (4), 16414074 (4), 10529192 (4) (see all 99)
bathorhodopsin	89.1	34	19787771 (4), 7827090 (4), 19192210 (2), 18177030 (2) (see all 12)
bacteriorhodopsin	85.9	164	8038384 (5), 19222795 (4), 17176057 (3), 16285719 (3) (see all 84)
phosphorhodopsin	85.3	7	17848565 (2), 8386638 (1), 9188704 (1)
beta-ionone	84	17	1330032 (3), 11722553 (1), 11316815 (1), 12616639 (1) (see all 12)
lumirhodopsin	82	21	7480145 (3), 1991105 (3), 11425321 (2), 14997522 (2) (see all 10)
iodopsin	72.9	10	10370152 (2), 16430225 (2), 2226824 (1), 2268324 (1) (see all 7)
retinochrome	71	6	1541344 (3), 7593753 (1), 12815237 (1), 12499666 (1)
11-cis-retinol	69.4	4	14750596 (1), 18563917 (1), 12671074 (1), 11852972 (1)
gdp	68	36	2229054 (4), 8810308 (3), 8567690 (1), 16815918 (1) (see all 26)

Search CenterWatch for drugs/clinical trials and news about RHO / OPSD

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for RHO gene:

NM_000539.3

Unigene Cluster for RHO:

Rhodopsin

Hs.247565 [show with all ESTs]

Unigene Representative Sequence: NM_000539

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000296271(uc003emt.3)

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		SwitchGear 3'UTR luciferase reporter plasmid: RHO 3' UTR sequence

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Additional cDNA sequence:

BC112104.1 BC112106.1 BX537381.1

8 DOTS entries:

DT.97807925 DT.97855530 DT.100033364 DT.100789757 DT.100033363 DT.100033368 DT.100789750 DT.92412136

24/364 AceView cDNA sequences (see all 364):

BQ637369 BQ636996 BM689547 BQ638380 BQ636918 BM692907 BM703950 BU726804

BQ639978 BQ186551 BM694684 BQ635861 BM704430 BM662906 BQ639170 BQ638120

BQ638694 AA318341 BU731182 BQ638734 BM690319 BQ639239 BM662103 BU733232

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

RHO expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

RHO expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Outer Nuclear Layer

Mature Rod Cells

Selective marker (cell-identifying gene)

Photoreceptors, Retina

Eye

Outer Nuclear Layer

Rod Precursor Cells

Photoreceptors, Retina

Umbilical Cord

Umbilical Veins

Umbilical vein endothelial cells

Endothelium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 6 LifeMap Cells

Name

Category

Photoreceptor-like cells (Differentiation of h...)

Optic cup structures (Generation of strati...)

Retinal cells (Generation of retina...)

Photoreceptor-like cells (Generation of retina...)

Eye

Photoreceptor-like cells (Generation of retina...)

Retina-like cells (Generation of retina...)

See RHO Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RHO

SOURCE GeneReport for Unigene cluster: Hs.247565

UniProtKB/Swiss-Prot: OPSD_HUMAN, P08100

Tissue specificity: Rod shaped photoreceptor cells which mediates vision in dim light

SABiosciences Expression via Pathway-Focused PCR Arrays including RHO:

G-Protein-Coupled Receptor Signaling PathwayFinder in human mouse rat

G Protein Coupled Receptors 384HT in human mouse rat

Cell Motility in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHO

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for RHO gene from 5/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	RHO¹	rhodopsin	83.43(n) 86.49(a)		751791 NM_001030606.1 NP_001025777.1
lizard (Anolis carolinensis)	Reptilia	OPSD_ANOCA⁶ -- (see all 3)	--	81(a) 37(a) (see all 3)	1 ↔ 1 possible ortholog (see all 3)	GL343273.1(641352-649511) 2(160603849-160631727)
African clawed frog (Xenopus laevis)	Amphibia	rho-prov²	rhodopsin	78.28(n)		L07770.1
zebrafish (Danio rerio)	Actinopterygii	rho²	rhodopsin	80.8(n)		30295 BC045288.1
honey bee (Apis mellifera)	Insecta	--	Pteropsin	25(a)	1 → many	Group9.2(283911-292747)

ENSEMBL Gene Tree for RHO (if available)
TreeFam Gene Tree for RHO (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for RHO gene

OPN3² OPN1MW² OPN1SW² RGR² OPN4² OPN1MW2² RRH² OPN1LW²

OPN5²

8 SIMAP similar genes for RHO using alignment to 1 protein entry: OPSD_HUMAN:

OPN1SW DKFZp781I1948 OPN1LW OPN1MW OPN1MW2 OPN4

RRH OPN3

RHO for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104893769^1,2	C	pathogenic	129247626(+)	`TGCGAC/TGGGTG`	2	T M	mis¹		0	--	--	--	--
rs104893797^1,2	C	pathogenic	129247643(+)	`GCAGCC/GCCTTC`	2	P A	mis¹		0	--	--	--	--
rs104893768^1,2	C	pathogenic	129247644(+)	`CAGCCA/CCTTCG`	2	H P	mis¹		0	--	--	--	--
rs104893770^1,2	C,	pathogenic	129247709(+)	`ACATGC/TTTCTG`	2	L F	mis¹		0	--	--	--	--
rs28933395^1,2	C	pathogenic	129247734(+)	`CTTCCC/GCATCA`	2	P R	mis¹ ese³		1		NA	2
rs28933394^1,2	C	pathogenic	129247749(+)	`CCTCAC/G/TGCTCT`	3	T R M	mis¹ ese³		3		NA	4556
rs104893771^1,2	C	pathogenic	129247836(+)	`CATGGA/TCCTAG`	2	D V	mis¹		0	--	--	--	--
rs104893790^1,2	C	pathogenic	129247845(+)	`AGGTGA/GCTTCA`	2	D G	mis¹		0	--	--	--	--
rs104893796^1,2	C	pathogenic	129247857(+)	`CAGCAC/TCCTCT`	2	T I	mis¹		0	--	--	--	--
rs104893773^1,2	C	pathogenic	129247892(+)	`TCTTCA/G/TGGCCC`	3	R G W	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for RHO (129247482 - 129254187 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for RHO: --
Human Gene Mutation Database (HGMD): RHO

Locus Specific Mutation Databases (LSDB): RHO

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RHO

DNA2.0 Custom Variant and Variant Library Synthesis for RHO

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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RHO for disorders           About GeneDecksing

OMIM gene information: 180380
OMIM disorders: 613731  610445  136880
UniProtKB/Swiss-Prot: OPSD_HUMAN, P08100

Defects in RHO are the cause of retinitis pigmentosa type 4 (RP4) [MIM:613731]. RP leads to degeneration of

retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As

their condition progresses, they lose their far peripheral visual field and eventually central vision as well

Defects in RHO are the cause of congenital stationary night blindness autosomal dominant type 1 (CSNBAD1)

[MIM:610445]; also known as rhodopsin-related congenital stationary night blindness. Congenital stationary night

blindness is a non-progressive retinal disorder characterized by impaired night vision

20/76 diseases for RHO (see all 76): About MalaCards

retinitis pigmentosa congenital stationary night blindness night blindness night blindness, congenital stationery, autosomal dominant 1

retinitis pigmentosa 4 retinitis blindness open-angle glaucoma

retinitis pigmentosa 4, autosomal dominant or recessive cone-rod dystrophy primary open angle glaucoma refractive error

leber congenital amaurosis low tension glaucoma retinitis punctata albescens familial adenomatous polyposis

9 diseases from the University of Copenhagen DISEASES database for RHO:

Retinitis pigmentosa Night blindness Blindness Fundus dystrophy

Leber congenital amaurosis Age related macular degeneration Keratomalacia cone-rod dystrophy

Color blindness

10/52 Novoseek disease relationships for RHO gene (see all 52) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
retinitis pigmentosa	92.8	254	16565402 (4), 10476820 (3), 7635666 (3), 20238031 (3) (see all 99)
retinal degeneration	86.7	76	12486400 (4), 7695903 (3), 2361011 (3), 7960587 (3) (see all 46)
oguchis disease	86.3	13	12590588 (3), 8107847 (2), 12466267 (2), 8652533 (1) (see all 9)
night blindness	83.3	11	11078833 (2), 16565402 (2), 12590588 (2), 8673138 (1) (see all 7)
night blindness, congenital stationary	70.3	4	9702034 (1), 8317502 (1), 15877050 (1), 2280934 (1)
retinopathy	65.9	16	14625696 (1), 15251955 (1), 9020854 (1), 15145060 (1) (see all 16)
retinitis pigmentosa 1	65.5	3	8154871 (1), 18552984 (1)
lebers congenital amaurosis	62.7	2	11139690 (1), 8317502 (1)
keratomalacia	50.5	1	19892132 (1)
cone-rod dystrophy	49.7	1	11139241 (1)

Genetic Association Database (GAD): RHO
Human Genome Epidemiology (HuGE) Navigator: RHO (77 documents)
Tumor Gene Database (TGDB): RHO

Export disorders for RHO gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for RHO gene, integrated from 9 sources (see all 1138):
(articles sorted by number of sources associating them with RHO)

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Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. (PubMed id 8554077)^{1, 2, 4, 9} Souied E.... Kaplan J. (1996)
[Digenic association of RHO and RP1 genes with retinitis pigmentosa among Chinese population in Hong Kong] (PubMed id 16185528)^{1, 4, 9} Wang D.Y....Pang C.P. (2005)
Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347. (PubMed id 7633434)^{1, 2, 9} Macke J.P.... Nathans J. (1995)
Dark-light: model for nightblindness from the human rhodopsin Gly- 90-->Asp mutation. (PubMed id 7846071)^{1, 2, 9} Sieving P.A....Alpern M. (1995)
Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa. (PubMed id 8076945)^{1, 2, 9} Reig C....Carballo M. (1994)
Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin. (PubMed id 8353500)^{1, 2, 9} Kranich H.... Gal A. (1993)
Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin. (PubMed id 8317502)^{1, 2, 9} Macke J.P.... Nathans J. (1993)
Rhodopsin mutations in autosomal dominant retinitis pigmentosa. (PubMed id 8401533)^{1, 2, 9} Al-Maghtheh M....Bhattacharya S. (1993)
A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. (PubMed id 2137202)^{1, 2, 9} Dryja T.P.... Berson E.L. (1990)
A dual role for EDEM1 in the processing of rod opsin. (PubMed id 19934218)^{1, 2} Kosmaoglou M.... Cheetham M.E. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 6010	HGNC: 10012	AceView: RHO	Ensembl:ENSG00000163914	euGenes: HUgn6010
ECgene: RHO	Kegg: 6010	H-InvDB: RHO

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for RHO	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for RHO	Genetics and Cytogenetics in Oncology and Haematology
Mutations of the RHO gene	http://www.retina-international.org/files/sci-news/rhomut.htm
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RHO
Wikipedia	http://en.wikipedia.org/wiki/Rhodopsin

Intellectual Property for RHO gene
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Patent Information for RHO gene:
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GeneCards and IP:
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