RHO rhodopsin [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 3q22.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (129528639..129535344)
RS_2023_10	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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa.
Title: Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa.
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.
Osmotic stress studies of G-protein-coupled receptor rhodopsin activation.
Title: Osmotic stress studies of G-protein-coupled receptor rhodopsin activation.
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.
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.
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.
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.
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.
Clinical and genetic findings in Italian patients with sector retinitis pigmentosa.
Title: Clinical and genetic findings in Italian patients with sector retinitis pigmentosa.
Proinflammatory Pathways Are Activated in the Human Q344X Rhodopsin Knock-In Mouse Model of Retinitis Pigmentosa.
Title: Proinflammatory Pathways Are Activated in the Human Q344X Rhodopsin Knock-In Mouse Model of Retinitis Pigmentosa.

Submit: New GeneRIF Correction See all GeneRIFs (150)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Rho (e-PCR), detects polymorphism
- UniSTS:265743

SHGC-31114 (e-PCR)
- UniSTS:52249

NoName (e-PCR)
- UniSTS:483359

SHGC-30855 (e-PCR)
- UniSTS:50991

GDB:181225 (e-PCR)
- UniSTS:155193

RH78627 (e-PCR)
- UniSTS:56640

GDB:437730 (e-PCR)
- UniSTS:157257

GDB:186557 (e-PCR)
- UniSTS:155493

GDB:171129 (e-PCR)
- UniSTS:28610

RH26341 (e-PCR)
- UniSTS:90330

SGC31296 (e-PCR)
- UniSTS:35832

RHO-5UUTR (e-PCR)
- UniSTS:15355

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 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 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
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

NG_009115.1 RefSeqGene

Range

5001..11706

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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