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RHO rhodopsin [ Homo sapiens (human) ]

Gene ID: 6010, updated on 10-Dec-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
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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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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)

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

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