U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    RHO rhodopsin [ Homo sapiens (human) ]

    Gene ID: 6010, updated on 7-Sep-2023

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RHO in Genome Data Viewer
    Location:
    3q22.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (129528639..129535344)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (132273081..132279773)
    105.20220307 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 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 Sharpr-MPRA regulatory region 10640 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:129213542-129214741 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

    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

    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
    PubMed 
    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 receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 adaptation of rhodopsin mediated signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to light stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 photoreceptor cell maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phototransduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in phototransduction, visible light TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in rhodopsin mediated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    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
    PubMed 
    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 
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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, Q16414, Q2M249
      UniProtKB/TrEMBL
      A0A076V826, A0A0K0Q0G7, A0A0M3R835
      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: GCF_000001405.40-RS_2023_03

    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)