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RHO Gene

protein-coding GIFtS: 66
GCID: GC03P129247

Rhodopsin

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

See RHO-related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
rhodopsin¹ ²		Retinitis Pigmentosa 4, Autosomal Dominant¹
RP4¹ ² ⁵		Rod Pigment¹
OPN2² ³ ⁵		Opsin 2, Rod Pigment²
CSNBAD1² ⁵		opsin-2²
Opsin 2¹		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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RHO Gene:

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)

GeneCards Summary for RHO Gene:

RHO (rhodopsin) is a protein-coding gene. Diseases associated with RHO include retinitis pigmentosa 4, and hereditary retinal dystrophy. GO annotations related to this gene include photoreceptor activity and G-protein coupled receptor activity. An important paralog of this gene is OPN3.

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) Gene

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000003.11 NC_018914.2 NT_005612.17

Regulatory elements:

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 Chromatin IP Primers for RHO

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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)

Secondary accessions: Q16414 Q2M249

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

Explore proteomics data for RHO at MOPED

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

Glycosylation² at Asn2, Asn15

Modification sites at PhosphoSitePlus

See RHO Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_000530.1

ENSEMBL proteins:

ENSP00000296271

Reactome Protein details: P08100

RHO Human Recombinant Protein Products:

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	Novus Biologicals RHO Lysate
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for RHO
	Search eBioscience for Proteins for RHO
	Search GeneTex for Proteins for RHO
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	antibodies-online peptides for RHO

RHO Antibody Products:

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	antibodies-online antibodies for RHO (111 products)

RHO Assay Products:

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	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for RHO Cloud-Clone Corp. CLIAs for RHO
	Search eBioscience for ELISAs for RHO
	antibodies-online kits for RHO (17 products)

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

HGNC Gene Families:

OPN: GPCR / Class A : Opsin receptors

Selected InterPro protein domains (see all 6):

IPR019477 Rhodopsin_N

IPR017452 GPCR_Rhodpsn_7TM

IPR000732 Rhodopsin

IPR001760 Opsin

IPR027430 Retinal_BS

Graphical View of Domain Structure for InterPro Entry P08100

ProtoNet protein and cluster: P08100

2 Blocks protein domains:

IPB000732 Rhodopsin signature

IPB001760 Opsin

UniProtKB/Swiss-Prot: OPSD_HUMAN, P08100

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

Find genes that share domains with RHO About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: 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

Gene Ontology (GO): 5 molecular function terms: 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	--

Find genes that share ontologies with RHO About GenesLikeMe

Phenotypes:
1 GenomeRNAi human phenotype for RHO:

Increased gamma-H2AX phosphory

9 MGI mutant phenotypes (inferred from 16 alleles) (MGI details for Rho):

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

Find genes that share phenotypes with RHO About GenesLikeMe

Animal Models:
MGI mouse knock-outs for RHO: Rho^tm2Jlem Rho^tm1Jlem Rho^tm1Phm Rho^tm1Jhw

genOway: Develop your customized and physiologically relevant rodent model for RHO

miRNA Products:		Block miRNA regulation of human, mouse, rat RHO using miScript Target Protectors
		Selected qRT-PCR 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:		OriGene RNAi products in human, mouse, rat for RHO
		Predesigned siRNA for gene silencing in human, mouse, rat RHO

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for RHO

Clone Products:		OriGene clones in human, mouse for RHO (see all 5) OriGene ORF clones in mouse, rat for RHO OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: RHO (NM_001664)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for RHO
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RHO

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for RHO
		Browse ESI BIO Cell Lines and PureStem Progenitors for RHO

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHO

Flow Cytometry
Products:

eBioscience FlowRNA Probe Sets ( VA1-13804 VF1-13802) for RHO

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Subcellular locations from UniProtKB/Swiss-Prot

OPSD_HUMAN, P08100: 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

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
golgi apparatus	5
plasma membrane	4
cytoskeleton	2
cytosol	2
endoplasmic reticulum	2
extracellular	2
mitochondrion	2
nucleus	2
endosome	1
lysosome	1
vacuole	1

About this image

Gene Ontology (GO): Selected cellular component terms (see all 10): 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	IDA	--
GO:0005887	integral component of plasma membrane	TAS	8253795

Find genes that share ontologies with RHO About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

SuperPaths for RHO About (see all 13)

See pathways by source

Powered
by

SuperPath

Contained pathways About

The phototransduction cascade

The phototransduction cascade	0.51	Inactivation, recovery and regulation of the phototransduction cascade	0.49
Visual signal transduction- Rods	0.51	Activation of the phototransduction cascade	0.00
Phototransduction	0.51

Peptide ligand-binding receptors

	Class A/1 (Rhodopsin-like receptors)	0.71			G alpha (i) signalling events	0.44
	GPCR ligand binding	0.71			GPCRs, Class A Rhodopsin-like	0.43

Signaling by GPCR

	Signaling by GPCR	0.90			Signal Transduction	0.58
	GPCR downstream signaling	0.90

Diseases associated with visual transduction

Visual phototransduction

0.44

Diseases associated with visual transduction

0.43

the visual cycle I (vertebrates)

The canonical retinoid cycle in rods (twilight vision)

0.44

Find genes that share SuperPaths with RHO About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

1 Downloadable PowerPoint Slide of GeneGlobe 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

5 BioSystems Pathways for RHO

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

5 Reactome Pathways for RHO

	Activation of the phototransduction cascade
	G alpha (i) signalling events
	The canonical retinoid cycle in rods (twilight vision)
	Opsins
	Inactivation, recovery and regulation of the phototransduction cascade

1 Kegg Pathway (Kegg details for RHO):

Phototransduction

Pathway & Disease-focused RT² Profiler 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

Interactions:

GeneGlobe Interaction Network for RHO

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for RHO (P08100^{1, 3} ENSP00000296271⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 29)

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): Selected biological process terms (see all 15): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001523	retinoid metabolic process	TAS	--
GO:0006468	protein phosphorylation	IEA	--
GO:0007186	G-protein coupled receptor signaling pathway	TAS	2218504
GO:0007601	visual perception	IEA	--
GO:0007602	phototransduction	--	--

Find genes that share ontologies with RHO About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for RHO (OPSD)

Selected 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

Selected Novoseek inferred 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)

Find genes that share compounds with RHO About GenesLikeMe

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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		Selected qRT-PCR 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

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		Predesigned siRNA for gene silencing in human, mouse, rat RHO

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		GenScript: all cDNA clones in your preferred vector: RHO (NM_001664)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for RHO
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RHO

Primer Products:		OriGene qPCR primer pairs and template standards for RHO OriGene qSTAR qPCR primer pairs in human, mouse for RHO
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat RHO
		QuantiTect SYBR Green Assays in human, mouse, rat RHO
		QuantiFast Probe-based Assays in human, mouse, rat RHO

Flow Cytometry
Products:

eBioscience FlowRNA Probe Sets ( VA1-13804 VF1-13802) for RHO

Additional mRNA 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

Selected AceView cDNA sequences (see all 364):

BQ637710 BQ639637 BM662103 BQ638494 BQ635858 BX491528 BQ638184 BU728273

C20752 BQ639239 BQ636420 BM694684 BQ636996 BQ637936 AA019440 BQ638380

BQ637369 BQ640073 BM704430 BU726836 BQ640647 BQ636632 BQ635935 BQ637553

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 GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, 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 <intensity>^2/3
CGAP TAG: --

About this image

RHO expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 3) fully expand


Eye (Sensory Organs) fully expand to see all 9 entries
Mature Rod Cells Outer Nuclear Layer
Retina
Optic cup structures

NULL (Sensory Organs) fully expand to see all 5 entries
Retina-like cells

Neurons
Mature Rod Cells Outer Nuclear Layer

RHO Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

RHO Protein Expression

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

Pathway & Disease-focused RT² Profiler 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

Primer Products:		OriGene qPCR primer pairs and template standards for RHO OriGene qSTAR qPCR primer pairs in human, mouse for RHO
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat RHO
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		QuantiFast Probe-based Assays in human, mouse, rat RHO

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 chordates.

Orthologs for RHO gene from Selected species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Rho^{1 , 5}	rhodopsin^{1, 5}	88.31(n)¹ 94.83(a)¹		6 (53.72 cM)⁵ 212541¹ NM_145383.1¹ NP_663358.1¹ 115931927⁵
chicken (Gallus gallus)	Aves	RHO¹	rhodopsin	83.72(n) 86.49(a)		751791 NM_001030606.1 NP_001025777.1
lizard (Anolis carolinensis)	Reptilia	RHO⁶	rhodopsin	81(a)	1 ↔ 1	GL343273.1(641352-649511)
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

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,Sets of similar genes according to GenesLikeMe)
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Paralogs for RHO gene

OPN3² RGR² OPN1MW2² OPN4² OPN1LW² OPN1MW² OPN1SW² RRH²

OPN5²

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

OPN1SW DKFZp781I1948 OPN1LW OPN1MW OPN1MW2 OPN4

RRH OPN3

Find genes that share paralogs with RHO About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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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
				--	--	--		--	--
rs104893770^1,2,,4	C	Retinitis pigmentosa 4 (RP4)⁴ pathogenic¹	129230873(+)	`ACATGC/TTTCTG`	2	L F	mis¹		0	--	--	--	--
rs28933395^1,2,,4	C	Retinitis pigmentosa 4 (RP4)⁴ pathogenic¹	129230898(+)	`CTTCCC/GCATCA`	2	P R	mis¹ ese³		0	--	--	--	--
rs28933394^1,2,,4	C	Retinitis pigmentosa 4 (RP4)⁴ pathogenic¹	129230913(+)	`CCTCAC/G/TGCTCT`	2	T R	mis¹ ese³		1		NA	4552
rs28933993^1,2,,4	C	Retinitis pigmentosa 4 (RP4)⁴ pathogenic¹	129234359(+)	`GGTCCA/CCTTCA`	2	H P	mis¹ ese³		0	--	--	--	--
rs29001653^1,2,,4	C	Retinitis pigmentosa 4 (RP4)⁴ pathogenic¹	129234729(+)	`TTGCCA/GAGAGC`	2	K E	mis¹		0	--	--	--	--
rs29001637^1,2,,4	C	Retinitis pigmentosa 4 (RP4)⁴ pathogenic¹	129235717(+)	`TGGCCC/TCGGCC`	2	P S	mis¹		0	--	--	--	--
rs29001566^1,2,,4	C	Retinitis pigmentosa 4 (RP4)⁴ pathogenic¹	129235718(+)	`GGCCCA/C/G/T GGCCT`	4	Q P R L	mis¹		0	--	--	--	--
VAR_004795⁴		Retinitis pigmentosa 4 (RP4)⁴	--	see VAR_004795	2	R G	mis⁴		0	--	--	--	--
VAR_004827⁴		Night blindness, congenital stationary, autosomal dominant 1 (CSNBAD1)⁴	--	see VAR_004827	2	A E	mis⁴		0	--	--	--	--
VAR_004805⁴		Retinitis pigmentosa 4 (RP4)⁴	--	see VAR_004805	2	P S	mis⁴		0	--	--	--	--

HapMap Linkage Disequilibrium report for RHO (129247482 - 129254187 bp)

Structural Variations
Database of Genomic Variants (DGV) 4 variations for RHO: About this table

Variant ID	Type	Subtype	PubMed ID
dgv5254n71	CNV	Loss	21882294
dgv5255n71	CNV	Loss	21882294
nsv822251	CNV	Loss	20364138
nsv3998	CNV	Loss	18451855

Human Gene Mutation Database (HGMD): RHO
Locus Specific Mutation Databases (LSDB): RHO

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers 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, Sets of similar genes according to GenesLikeMe)
About This Section

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

Retinitis pigmentosa 4 (RP4) [MIM:613731]: A retinal dystrophy belonging to the group of pigmentary

retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination

and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. 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. Note=The disease is caused by mutations

affecting the gene represented in this entry

Night blindness, congenital stationary, autosomal dominant 1 (CSNBAD1) [MIM:610445]: A non-progressive

retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. Note=The

disease is caused by mutations affecting the gene represented in this entry

Selected diseases for RHO (see all 32):
About MalaCards

retinitis pigmentosa 4 hereditary retinal dystrophy keratomalacia xerophthalmia

retinitis pigmentosa 4, autosomal dominant or recessive rho-related retinitis pigmentosa congenital stationary night blindness, autosomal dominant 1 retinitis pigmentosa

cystoid macular edema cancer-associated retinopathy fundus albipunctatus cone-rod dystrophy 2

retinitis pigmentosa autosomal recessive pineocytoma cone-rod dystrophy 4 rhyns syndrome

retinitis cone-rod dystrophy refsum disease blindness

8 inferred disease relationships 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

Find genes that share disorders with RHO About GenesLikeMe

Selected Novoseek inferred 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)
About This Section

PubMed articles for RHO gene, integrated from 10 sources (see all 1147):
(articles sorted by number of sources associating them with RHO)

Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. (PubMed id 8554077)^{1, 2, 4, 9} Souied E.... Kaplan J. (Am. J. Ophthalmol. 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. (Zhonghua Yi Xue Za Zhi 2005)
Novel PRPF31 and PRPH2 mutations and co-occurrence of PRPF31 and RHO mutations in Chinese patients with retinitis pigmentosa. (PubMed id 19506198)^{1, 4, 9} Lim K.P....To C.H. (Arch. Ophthalmol. 2009)
Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India. (PubMed id 18552984)^{1, 4, 9} Gandra M.... Govindasamy K. (Mol. Vis. 2008)
Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa. (PubMed id 17653048)^{1, 4, 9} Ando Y....Kato S. (Mol. Vis. 2007)
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. (Hum. Mol. Genet. 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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Hum. Genet. 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. (Hum. Mol. Genet. 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. (Am. J. Hum. Genet. 1993)

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

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
About This Section

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/books/NBK1116/?term=RHO[genesymbol]
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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Retinitis
Neurodegenerative Diseases
Melanoma
familial adenomatous polyposis
Oguchis disease
Blindness
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dysplasia
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NIGHT BLINDNESS, CONGENITAL STATIONARY
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RETINITIS PIGMENTOSA 1
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