RHO rhodopsin

Gene ID: 6010, updated on 2-Nov-2024
Gene type: protein coding
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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Congenital stationary night blindness autosomal dominant 1 MedGen: C1864869OMIM: 610445GeneReviews: Not available	See labs
Pigmentary retinal dystrophy MedGen: C0311338OMIM: 136880GeneReviews: Not available	See labs
Retinitis pigmentosa 4 MedGen: C3151001OMIM: 613731GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview	See labs

Genomic context

Location:: 3q22.1

Sequence:: Chromosome: 3; NC_000003.12 (129528639..129535344)

Total number of exons:: 5

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for RHO variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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