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    RHO rhodopsin [ Homo sapiens (human) ]

    Gene ID: 6010, updated on 2-Nov-2024

    Summary

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    Official Symbol
    RHOprovided by HGNC
    Official Full Name
    rhodopsinprovided by HGNC
    Primary source
    HGNC:HGNC:10012
    See related
    Ensembl:ENSG00000163914 MIM:180380; AllianceGenome:HGNC:10012
    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
    mouse all
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    Genomic context

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    See RHO in Genome Data Viewer
    Location:
    3q22.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (129528639..129535344)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (132273081..132279773)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (129247482..129254187)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20512 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20513 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20514 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20517 Neighboring gene Sharpr-MPRA regulatory region 8693 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:129168229-129168945 Neighboring gene methyl-CpG binding domain 4, DNA glycosylase Neighboring gene intraflagellar transport 122 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:129200162-129201039 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:129208521-129208729 Neighboring gene Sharpr-MPRA regulatory region 10640 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:129213542-129214741 Neighboring gene MPRA-validated peak4826 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:129247433-129248158 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:129248159-129248884 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:129253999-129254668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:129261557-129262058 Neighboring gene Sharpr-MPRA regulatory region 2951 Neighboring gene rhodopsin enhancer region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:129277154-129278043 Neighboring gene H1.8 linker histone Neighboring gene plexin D1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:129291899-129292624 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:129295530-129296256 Neighboring gene RNA, 7SL, cytoplasmic 752, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Retinitis pigmentosa-associated rhodopsin mutations in three membrane-located cysteine residues present three different biochemical phenotypes. Breikers G, et al. Biochem Biophys Res Commun, 2002 Oct 4. PMID 12359230
    2. Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes. Neidhardt J, et al. Invest Ophthalmol Vis Sci, 2006 Apr. PMID 16565402
    3. Mutational analysis of the rhodopsin gene in Chinese ADRP families by conformation sensitive gel electrophoresis. Zhang XL, et al. Life Sci, 2006 Feb 23. PMID 16229860
    4. Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy. Mendes HF, et al. Trends Mol Med, 2005 Apr. PMID 15823756
    5. [A recurrent rhodopsin gene missense mutation in a Chinese family with autosomal dominant retinitis pigmentosa]. Wang S, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2005 Apr. PMID 15793783

    See all (245) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Charge transfer characteristics in rhodopsin mimics during photoexcitation.
      Title: Charge transfer characteristics in rhodopsin mimics during photoexcitation.
    2. Dark continuous noise from mutant G90D-rhodopsin predominantly underlies congenital stationary night blindness.
      Title: Dark continuous noise from mutant G90D-rhodopsin predominantly underlies congenital stationary night blindness.
    3. Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa.
      Title: Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa.
    4. Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population.
      Title: Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population.
    5. Osmotic stress studies of G-protein-coupled receptor rhodopsin activation.
      Title: Osmotic stress studies of G-protein-coupled receptor rhodopsin activation.
    6. Retinal Organoid Models Show Heterozygous Rhodopsin Mutation Favors Endoplasmic Reticulum Stress-Induced Apoptosis in Rods.
      Title: Retinal Organoid Models Show Heterozygous Rhodopsin Mutation Favors Endoplasmic Reticulum Stress-Induced Apoptosis in Rods.
    7. Rho Kinase Expression in Giant Cell Arteritis: Validating Phosphorylated Ezrin/Radixin/Moesin Intensity Score to Increase Sensitivity of Temporal Artery Biopsy.
      Title: Rho Kinase Expression in Giant Cell Arteritis: Validating Phosphorylated Ezrin/Radixin/Moesin Intensity Score to Increase Sensitivity of Temporal Artery Biopsy.
    8. Identification of small-molecule allosteric modulators that act as enhancers/disrupters of rhodopsin oligomerization.
      Title: Identification of small-molecule allosteric modulators that act as enhancers/disrupters of rhodopsin oligomerization.
    9. Structural Basis of Arrestin Selectivity for Active Phosphorylated G Protein-Coupled Receptors.
      Title: Structural Basis of Arrestin Selectivity for Active Phosphorylated G Protein-Coupled Receptors.
    10. Conformational insights into the C-terminal mutations of human rhodopsin in retinitispigmentosa.
      Title: Conformational insights into the C-terminal mutations of human rhodopsin in retinitispigmentosa.
    Submit: New GeneRIF Correction See all GeneRIFs (152)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Congenital stationary night blindness autosomal dominant 1
    MedGen: C1864869 OMIM: 610445 GeneReviews: Not available
    		Compare labs
    Pigmentary retinal dystrophy
    MedGen: C0311338 OMIM: 136880 GeneReviews: Not available
    		Compare labs
    Retinitis pigmentosa 4
    MedGen: C3151001 OMIM: 613731 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC138309, MGC138311

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 11-cis retinal binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables G protein-coupled photoreceptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables G protein-coupled photoreceptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables G protein-coupled receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled opsin signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in G protein-coupled receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in absorption of visible light ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cellular response to light stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in detection of temperature stimulus involved in thermoception IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in microtubule cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in photoreceptor cell maintenance IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phototransduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phototransduction, visible light TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in podosome assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to light intensity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in rod bipolar cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in thermotaxis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in Golgi-associated vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in cell-cell junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in ciliary membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in photoreceptor disc membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in photoreceptor disc membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in photoreceptor inner segment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in photoreceptor inner segment membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in photoreceptor outer segment IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in photoreceptor outer segment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in photoreceptor outer segment membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in rod photoreceptor outer segment IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in sperm head plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in sperm midpiece IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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_000539.3 → NP_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, Q16414, Q2M249
      UniProtKB/TrEMBL
      A0A076V826, A0A0K0Q0G7, A0A0M3R835
      Related
      ENSP00000296271.3, ENST00000296271.4
      Conserved Domains (2) summary
      pfam10413
      Location:3 → 37
      Rhodopsin_N; Amino terminal of the G-protein receptor rhodopsin
      cd15080
      Location:38 → 317
      7tmA_MWS_opsin; medium wave-sensitive opsins, member of the class A family of seven-transmembrane G protein-coupled receptors

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      132273081..132279773
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P08100.1 GenPept UniProtKB/Swiss-Prot:P08100

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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