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RHO rhodopsin [ Homo sapiens (human) ]

Gene ID: 6010, updated on 1-Jun-2020

Summary

Official Symbol
RHOprovided by HGNC
Official Full Name
rhodopsinprovided by HGNC
Primary source
HGNC:HGNC:10012
See related
Ensembl:ENSG00000163914 MIM:180380
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RP4; OPN2; CSNBAD1
Summary
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 a cause of congenital stationary night blindness. [provided by RefSeq, Aug 2017]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See RHO in Genome Data Viewer
Location:
3q22.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (129528639..129535344)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (129247482..129254187)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 8693 Neighboring gene intraflagellar transport 122 Neighboring gene rhodopsin enhancer region Neighboring gene Sharpr-MPRA regulatory region 1469 Neighboring gene H1.8 linker histone Neighboring gene plexin D1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138309, MGC138311

Gene Ontology Provided by GOA

Function Evidence Code Pubs
11-cis retinal binding ISS
Inferred from Sequence or Structural Similarity
more info
 
G protein-coupled photoreceptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G protein-coupled photoreceptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
G protein-coupled receptor activity TAS
Traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G protein-coupled receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
absorption of visible light ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to light stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
photoreceptor cell maintenance IEA
Inferred from Electronic Annotation
more info
 
phototransduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phototransduction, visible light TAS
Traceable Author Statement
more info
PubMed 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
protein-chromophore linkage IEA
Inferred from Electronic Annotation
more info
 
regulation of rhodopsin mediated signaling pathway TAS
Traceable Author Statement
more info
 
retina development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
retinoid metabolic process TAS
Traceable Author Statement
more info
 
rhodopsin mediated signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane TAS
Traceable Author Statement
more info
 
Golgi-associated vesicle membrane TAS
Traceable Author Statement
more info
 
cell-cell junction IEA
Inferred from Electronic Annotation
more info
 
ciliary membrane TAS
Traceable Author Statement
more info
 
integral component of membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
photoreceptor disc membrane IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor disc membrane TAS
Traceable Author Statement
more info
 
photoreceptor inner segment IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor inner segment membrane IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor outer segment IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
photoreceptor outer segment IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor outer segment membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
rhodopsin
Names
opsin 2, rod pigment
opsin-2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009115.1 RefSeqGene

    Range
    5001..11706
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000539.3NP_000530.1  rhodopsin

    See identical proteins and their annotated locations for NP_000530.1

    Status: REVIEWED

    Source sequence(s)
    AC080007
    Consensus CDS
    CCDS3063.1
    UniProtKB/Swiss-Prot
    P08100
    Related
    ENSP00000296271.3, ENST00000296271.4
    Conserved Domains (2) summary
    pfam10413
    Location:337
    Rhodopsin_N; Amino terminal of the G-protein receptor rhodopsin
    cd15080
    Location:38317
    7tmA_MWS_opsin; medium wave-sensitive opsins, member of the class A family of seven-transmembrane G protein-coupled receptors

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    129528639..129535344
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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