RER rhodopsin enhancer region [Homo sapiens (human)] - Gene

Summary

Gene symbol: RER
Gene description: rhodopsin enhancer region
Gene type: biological region
Feature type(s): misc_feature: conserved_region
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This element represents a conserved regulatory region upstream of the rhodopsin (RHO) gene, where the orthologous bovine sequence functions as a RHO enhancer in retinal cells of transgenic mice. This conserved region also shares a region of homology with the opsin locus control region (OPSIN-LCR), which controls cone cell-specific expression of the red/green cone pigment genes on chromosome X. However, the bovine rhodopsin enhancer does not display transgene copy number-dependent or position-independent activity, and it is therefore not an LCR. This human conserved region is thought to bind retina-specific transcription factors, and it forms looping interactions with the RHO gene in rod cells. [provided by RefSeq, May 2016]
Orthologs: mouse all
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Genomic context

Location:: 3q22.1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (129526730..129526833)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (132271172..132271275)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (129245573..129245676)

Chromosome 3 - NC_000003.12 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

What's a GeneRIF?

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Phenotypes

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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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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.