OPSIN-LCR opsin locus control region [Homo sapiens (human)] - Gene

Summary

Gene symbol: OPSIN-LCR
Gene description: opsin locus control region
Primary source: MIM:300824
Gene type: biological region
Feature type(s): misc_feature: conserved_region
protein_bind
regulatory: TATA_box, locus_control_region, promoter, transcriptional_cis_regulatory_region
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OPN1C; L/M-LCR; LCR-OPSIN
Summary: This genomic region represents a locus control region (LCR) that controls cone cell-specific and mutually exclusive expression of the red and green cone pigment genes. These genes, which are present in an array on chromosome X, include one red pigment gene (opsin 1, long-wave-sensitive; OPN1LW) and one or more green pigment genes (opsin 1, medium-wave-sensitive; OPN1MW, OPN1MW2 and OPN1MW3 in the reference genome assembly). The LCR core region, which is located approximately 3.1-3.7 kb upstream of the OPN1LW gene, binds to transcription factors associated with retinal development, and it forms looping interactions with the cone pigment gene promoters. It is thought that mutually exclusive expression in individual cone cells is achieved by LCR interaction with only one gene promoter, and that genes in the cone pigment array may be preferentially selected based on distance from the LCR and/or local chromatin domain conformation. This LCR has been used to drive expression of heterologous genes in cone cells, and it has a potential use for gene therapy of achromatopsia and other retinal diseases. Mutations in this LCR result in X-linked blue cone monochromacy (BCM), and loss of the LCR results in a disrupted cone mosaic organization. [provided by RefSeq, Apr 2016]
Orthologs: mouse all
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Genomic context

Location:: Xq28

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (154137727..154144286)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (152411381..152417939)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (153403202..153409760)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

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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

Variation

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See variants in ClinVar

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General gene information

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Other Names

M-cone opsin locus-controlling region
OPN1LW/OPN1MW locus control region
red-green cone pigment regulatory region
red/green opsin LCR

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.