• Gene id: 6010

Gene Summary

• Gene Symbol: RHO   Gene   UCSC   Ensembl
• Aliases: CSNBAD1, OPN2, RP4
• Gene name: rhodopsin
• Alternate names: rhodopsin, opsin 2, rod pigment, opsin-2,
• Gene location: 3q22.1 (129528638: 129535343)     Exons: 5     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene is found in rod cells in the back of the eye and is essential for vision in low-light conditions. The encoded protein binds to 11-cis retinal and is activated when light hits the retinal molecule. Defects in this gene are
• OMIM: 180381

Protein Summary

• Protein general information: P08100  
  • Name: Rhodopsin (Opsin 2)
  • Length: 348  
  • Mass: 38893
  • Tissue specificity: Rod shaped photoreceptor cells which mediate vision in dim light.
• Sequence:

  MNGTEGPNFYVPFSNATGVVRSPFEYPQYYLAEPWQFSMLAAYMFLLIVLGFPINFLTLYVTVQHKKLRTPLNYI
  LLNLAVADLFMVLGGFTSTLYTSLHGYFVFGPTGCNLEGFFATLGGEIALWSLVVLAIERYVVVCKPMSNFRFGE
  NHAIMGVAFTWVMALACAAPPLAGWSRYIPEGLQCSCGIDYYTLKPEVNNESFVIYMFVVHFTIPMIIIFFCYGQ
  LVFTVKEAAAQQQESATTQKAEKEVTRMVIIMVIAFLICWVPYASVAFYIFTHQGSNFGPIFMTIPAFFAKSAAI
  YNPVIYIMMNKQFRNCMLTTICCGKNPLGDDEASATVSKTETSQVAPA

• Structural information:
  • Interpro: IPR000276  IPR017452  IPR001760  IPR027430  IPR000732   IPR019477  
  • Prosite: PS00237 PS50262 PS00238
  • PDB: 4ZWJ 5DGY 5W0P 6CMO
  • PDBsum: 4ZWJ 5DGY 5W0P 6CMO
  • STRING: ENSP00000296271
• Other Databases: GeneCards:  RHO  Malacards:  RHO

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071482	cellular response to light stimulus	IBA	biological process
GO:0008020	G protein-coupled photoreceptor activity	IBA	molecular function
GO:0007602	phototransduction	IBA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0001750	photoreceptor outer segment	IBA	cellular component
GO:0097381	photoreceptor disc membrane	IDA	cellular component
GO:0060342	photoreceptor inner segment membrane	IDA	cellular component
GO:0042622	photoreceptor outer segment membrane	IDA	cellular component
GO:0016056	rhodopsin mediated signaling pathway	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016021	integral component of membrane	ISS	cellular component
GO:0008020	G protein-coupled photoreceptor activity	ISS	molecular function
GO:0005502	11-cis retinal binding	ISS	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0007601	visual perception	IEA	biological process
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0007602	phototransduction	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0009881	photoreceptor activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0018298	protein-chromophore linkage	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007602	phototransduction	IEA	biological process
GO:0004930	G protein-coupled receptor activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0007603	phototransduction, visible light	TAS	biological process
GO:0016056	rhodopsin mediated signaling pathway	TAS	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0001917	photoreceptor inner segment	IDA	cellular component
GO:0001750	photoreceptor outer segment	IDA	cellular component
GO:0001750	photoreceptor outer segment	IDA	cellular component
GO:0016038	absorption of visible light	ISS	biological process
GO:0016038	absorption of visible light	ISS	biological process
GO:0001523	retinoid metabolic process	TAS	biological process
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0022400	regulation of rhodopsin mediated signaling pathway	TAS	biological process
GO:0060170	ciliary membrane	TAS	cellular component
GO:0097381	photoreceptor disc membrane	TAS	cellular component
GO:0097381	photoreceptor disc membrane	TAS	cellular component
GO:0097381	photoreceptor disc membrane	TAS	cellular component
GO:0097381	photoreceptor disc membrane	TAS	cellular component
GO:0097381	photoreceptor disc membrane	TAS	cellular component
GO:0097381	photoreceptor disc membrane	TAS	cellular component
GO:0097381	photoreceptor disc membrane	TAS	cellular component
GO:0097381	photoreceptor disc membrane	TAS	cellular component
GO:0097381	photoreceptor disc membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular component
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular component
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005911	cell-cell junction	IEA	cellular component
GO:0007601	visual perception	IEA	biological process
GO:0045494	photoreceptor cell maintenance	IEA	biological process
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0007602	phototransduction	IEA	biological process
GO:0009416	response to light stimulus	IEA	biological process
GO:0009583	detection of light stimulus	IEA	biological process
GO:0050953	sensory perception of light stimulus	IEA	biological process
GO:0071482	cellular response to light stimulus	IEA	biological process
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04744	Phototransduction

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Congenital stationary night blindness	KEGG:H00787
Familial flecked retina syndrome	KEGG:H00825
Retinitis pigmentosa	KEGG:H00527
Congenital stationary night blindness	KEGG:H00787
Familial flecked retina syndrome	KEGG:H00825
Retinitis pigmentosa	PMID:21268285
Night blindness	PMID:8358437
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq