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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)

Microbiology & Infectious Diseases Congress

See 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, 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 xerophthalmia, and hereditary retinal dystrophy, and among its related super-pathways are The phototransduction cascade and Class A/1 (Rhodopsin-like receptors). 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.2 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for RHO at MOPED

Post-translational modifications:

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

UniProtKB: Contains one covalently linked retinal chromophore (By similarity)

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_P08100

RHO Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_000530.1

ENSEMBL proteins:

ENSP00000296271

Reactome Protein details: P08100
Human Recombinant Protein Products for RHO:

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Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (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 to plasma membrane	TAS	8253795

RHO for ontologies About GeneDecksing

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

HGNC Gene Families:

OPN: GPCR / Class A : Opsin receptors

5/6 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

RHO for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
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 (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

Phenotypes:
1 GenomeRNAi human phenotype for RHO:

Increased gamma-H2AX phosphory

9 MGI mutant phenotypes (inferred from 15 alleles) (MGI details for Rho):

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

RHO for phenotypes About GeneDecksing

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

inGenious Targeting Laboratory - Custom generated mouse model solutions for RHO

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RHO

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RHO

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RHO

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		8/50 QIAGEN miScript miRNA Assays for microRNAs that regulate RHO (see all 50):
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		SwitchGear 3'UTR luciferase reporter plasmid: RHO 3' UTR sequence

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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for RHO
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHO

(Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for RHO About (see all 13)

See pathways by source

SuperPath

Contained pathways About

Visual signal transduction- Rods

Visual signal transduction- Rods	0.54	Phototransduction	0.46
The phototransduction cascade	0.54	Activation of the phototransduction cascade	0.38
Inactivation, recovery and regulation of the phototransduction cascade	0.51

Class A/1 (Rhodopsin-like receptors)

	Class A/1 (Rhodopsin-like receptors)	0.71			G alpha (i) signalling events	0.46
	GPCR ligand binding	0.71			GPCRs, Class A Rhodopsin-like	0.41

Signaling by GPCR

	Signaling by GPCR	0.90			Signal Transduction	0.55
	GPCR downstream signaling	0.90

Visual phototransduction

Visual phototransduction

0.48

Diseases associated with visual transduction

0.47

Retinol metabolism

Retinol metabolism

0.95

Pathways by source See SuperPaths
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

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

5/14 Reactome Pathways for RHO (see all 14)

	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): 5/15 biological process terms (GO ID links to tree view) (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	--	--

RHO for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 (OPSD)

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 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)

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

(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,
Conferences by KenesGroup, 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, Sirion Biotech, 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)

Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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

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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

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

BQ636018 AA019440 BU726836 BM662103 AL712816 BM688393 BQ638214 BQ639818

BM662863 BM663696 BQ636862 BQ638454 BQ635861 BU728186 BQ637803 BM662906

BU731182 BQ640660 BQ186551 BQ638380 BQ635935 BQ637553 BQ637684 BU732105

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) RHO embryonic expression: see
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

5/4 selected tissues (see all 4) fully expand


Eye (Sensory Organs) fully expand to see all 4 entries
Mature Rod Cells Outer Nuclear Layer
Retina
retina

Umbilical Cord (Extraembryonic Tissues) fully expand to see all 2 entries
Umbilical vein endothelial cells Umbilical Veins
umbilical cord reticulocytes

Blood (Hematopoietic System) fully expand to see all 2 entries
umbilical cord reticulocytes

Endothelium (Cardiovascular System)
Umbilical vein endothelial cells Umbilical Veins

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 chordates.

Orthologs for RHO gene from 5/13 species (see all 13) 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	83.43(n) 86.49(a)		751791 NM_001030606.1 NP_001025777.1
lizard (Anolis carolinensis)	Reptilia	RHO⁶ RH2⁶ (see all 3)	Blue-sensitive opsin (see all 3)	81(a) 68(a) (see all 3)	1 ↔ 1 possible ortholog (see all 3)	GL343273.1(641352-649511) 4(122808390-122826851)
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)
About This Section

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

RHO for paralogs About GeneDecksing

(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) 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)
About This Section

SNP ID	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
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	--	--	--	--
VAR_004782⁴	Retinitis pigmentosa 4 (RP4)⁴	--	see VAR_004782	2	G D	mis⁴		0	--	--	--	--
VAR_004796⁴	Retinitis pigmentosa 4 (RP4)⁴	--	see VAR_004796	2	R L	mis⁴		0	--	--	--	--
VAR_004835⁴	Retinitis pigmentosa 4 (RP4)⁴	--	see VAR_004835	2	P Q	mis⁴		0	--	--	--	--
VAR_004784⁴	Night blindness, congenital stationary, autosomal dominant 1 (CSNBAD1)⁴	--	see VAR_004784	2	T I	mis⁴		0	--	--	--	--
VAR_068360⁴	Retinitis pigmentosa 4 (RP4)⁴	--	see VAR_068360	2	I N	mis⁴		0	--	--	--	--
VAR_004803⁴	Retinitis pigmentosa 4 (RP4)⁴	--	see VAR_004803	2	P L	mis⁴		0	--	--	--	--
VAR_004774⁴	Retinitis pigmentosa 4 (RP4)⁴	--	see VAR_004774	2	L R	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

SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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

20/75 diseases for RHO (see all 75): About MalaCards

xerophthalmia hereditary retinal dystrophy keratomalacia refractive error

congenital stationary night blindness, autosomal dominant 1 blindness hereditary nephrotic syndromes night blindness, congenital stationary, x-linked, type 2a

cancer-associated retinopathy low tension glaucoma retinitis pigmentosa 7 night blindness

retinal vascular occlusion pineocytoma retinitis pigmentosa stargardt disease

8 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

RHO for disorders About GeneDecksing

Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

10/52 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 9 sources (see all 1144):
(articles sorted by number of sources associating them with RHO)

Utopia: connect your pdf to the dynamic
world of online information

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)
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. (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. (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. (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. (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)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		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)
About This Section

Entrez Gene: 6010	HGNC: 10012	AceView: RHO	Ensembl:ENSG00000163914	euGenes: HUgn6010
ECgene: RHO	Kegg: 6010	H-InvDB: RHO

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or 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/sites/GeneTests/lab/gene/RHO
Wikipedia	http://en.wikipedia.org/wiki/Rhodopsin

Intellectual Property for RHO gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for RHO gene:
Search GeneIP for patents involving RHO

GeneCards and IP:
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