LOC108281178 SRR2 enhancer downstream of SOX2 [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC108281178
Gene description: SRR2 enhancer downstream of SOX2
Gene type: biological region
Feature type(s): regulatory: enhancer, 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: SOX2-SRR2
Summary: This genomic region includes the SOX2 regulatory region 2 (SRR2), a conserved sequence that functions as an enhancer. A subregion was shown to regulate the SOX2 (SRY-box 2) promoter located approximately 4 kb upstream by reporter assays in PA-1 human teratoma cells, where HMG and POU binding site sequences are important for function. The SRR2 enhancer additionally showed cooperative activity with the SRR1 enhancer located approximately 4 kb upstream of SOX2. This genomic region was also validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay in primed human embryonic stem cells, where it associates with the OCT4 and NANOG transcription factors and is marked by the H3K27ac histone modification. [provided by RefSeq, Oct 2022]
Orthologs: mouse all
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Genomic context

Location:: chromosome: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (181715429..181716409)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (184520005..184520959)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (181433845..181434036)

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?

SOX2 enhancers SRR1 and SRR2 are each differentially methylated and acetylated, on a temporal basis, contributing to the generation of neuron- and astrocyte-specific epigenomes from a common progenitor cell.
Title: Epigenetic modifications of SOX2 enhancers, SRR1 and SRR2, correlate with in vitro neural differentiation.

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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

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:181433217-181434197
SOX2 regulatory region 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.