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LOC126806134 MED14-independent group 3 enhancer GRCh37_chr2:9959896-9961095 [ Homo sapiens (human) ]

Gene ID: 126806134, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126806134
Gene description
MED14-independent group 3 enhancer GRCh37_chr2:9959896-9961095
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 includes enhancers that were validated by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay. In HCT116 colorectal carcinoma cells, a subregion 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. Another subregion was also validated as an enhancer by ChIP-STARR-seq in naive human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
chromosome: 2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (9819767..9821195)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (9847682..9849110)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100996549 Neighboring gene Sharpr-MPRA regulatory region 12215 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:9905902-9906452 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11140 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:9910317-9911245 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:9911246-9912173 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11142 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15295 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:9939945-9940780 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:9940781-9941616 Neighboring gene uncharacterized LOC105373421 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:9949571-9950071 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:9970201-9970740 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:9974742-9974950 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11144 Neighboring gene TATA-box binding protein associated factor, RNA polymerase I subunit B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:10057557-10058058 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:10073172-10073377 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:10078385-10078724 Neighboring gene uncharacterized LOC105373422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:10080877-10081377

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
  2. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, 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

General gene information

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Other Names

  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:9960421-9961324

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_082458.2 

    Range
    101..1529
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    9819767..9821195
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    9847682..9849110
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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