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LOC126806213 MED14-independent group 3 enhancer GRCh37_chr2:47316060-47317259 [ Homo sapiens (human) ]

Gene ID: 126806213, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126806213
Gene description
MED14-independent group 3 enhancer GRCh37_chr2:47316060-47317259
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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Location:
chromosome: 2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (47088921..47090120)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (47093670..47094870)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124906004 Neighboring gene Sharpr-MPRA regulatory region 4552 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:47100539-47101038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47105752-47106252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47106253-47106753 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:47117443-47117627 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11457 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:47143015-47143989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11458 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15716 Neighboring gene multiple coagulation factor deficiency 2, ER cargo receptor complex subunit Neighboring gene Sharpr-MPRA regulatory region 4700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47184163-47184662 Neighboring gene tetratricopeptide repeat domain 7A Neighboring gene Sharpr-MPRA regulatory region 1272/3994 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:47201305-47202504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15717 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15719 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47214570-47215070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47215071-47215571 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:47229712-47229877 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47231529-47232241 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47233455-47234351 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47247642-47248142 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47252405-47252904 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:47260876-47262075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47272944-47273444 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47273445-47273945 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47276757-47277730 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:47278786-47278992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47282739-47283687 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15721 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47293527-47294085 Neighboring gene VISTA enhancer hs1967 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47307103-47307880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47307881-47308656 Neighboring gene sperm-tail PG-rich repeat containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15722 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:47402112-47402778 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:47402802-47402952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15725 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47419971-47420492 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47420493-47421014 Neighboring gene calmodulin 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:47434831-47435330 Neighboring gene uncharacterized LOC105374588 Neighboring gene EPCAM divergent transcript

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

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_082537.1 

    Range
    101..1300
    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
    47088921..47090120
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    47093670..47094870
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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