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LOC126806526 MED14-independent group 3 enhancer GRCh37_chr2:221719713-221720912 [ Homo sapiens (human) ]

Gene ID: 126806526, updated on 12-Sep-2024

Summary

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Gene symbol
LOC126806526
Gene description
MED14-independent group 3 enhancer GRCh37_chr2:221719713-221720912
Gene type
biological region
Feature type(s)
regulatory: enhancer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic region was validated as an active enhancer by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay in HCT116 colorectal carcinoma cells. This sequence was defined as a group 3 enhancer that depends on the BRD2, BRD4, P300/CBP and CDK7 cofactors, but it has limited or no dependence on the MED14 core Mediator complex subunit. [provided by RefSeq, Sep 2022]
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Genomic context

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See LOC126806526 in Genome Data Viewer
Location:
chromosome: 2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (220854993..220856192)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (221340098..221341297)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (221719713..221720912)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373895 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:221483874-221485073 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:221494672-221495871 Neighboring gene Sharpr-MPRA regulatory region 1258 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17158 Neighboring gene Sharpr-MPRA regulatory region 1647 Neighboring gene uncharacterized LOC105373896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:221614001-221614501 Neighboring gene NANOG hESC enhancer GRCh37_chr2:221646461-221647002 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:221700003-221701202 Neighboring gene uncharacterized LOC107985990 Neighboring gene Sharpr-MPRA regulatory region 6063 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:221989613-221990137 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:222033741-222034242 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:222034243-222034742 Neighboring gene NANOG hESC enhancer GRCh37_chr2:222109712-222110223 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57049 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:222236463-222236962 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:222289669-222290868 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:222332747-222333353 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:222333354-222333959 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:222381886-222383085 Neighboring gene EPH receptor A4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:222391836-222392336 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12364 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12365 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12366 Neighboring gene transmembrane protein 256 pseudogene 2 Neighboring gene NANOG hESC enhancer GRCh37_chr2:222441193-222441705 Neighboring gene uncharacterized LOC105373897 Neighboring gene ribosomal protein L23 pseudogene 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Differential cofactor dependencies define distinct types of human enhancers. Neumayr C, et al. Nature, 2022 Jun. PMID 35650434, Free PMC Article

GeneRIFs: Gene References Into Functions

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)

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

  1. NG_082846.1 

    Range
    101..1300
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    220854993..220856192
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    221340098..221341297
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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