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LOC126806488 MED14-independent group 3 enhancer GRCh37_chr2:210233444-210234643 [ Homo sapiens (human) ]

Gene ID: 126806488, updated on 12-Sep-2024

Summary

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Gene symbol
LOC126806488
Gene description
MED14-independent group 3 enhancer GRCh37_chr2:210233444-210234643
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 LOC126806488 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 (209368720..209369919)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (209848591..209849790)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (210233444..210234643)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene MYST/Esa1-associated factor 6 pseudogene 1 Neighboring gene plakophilin 4 pseudogene 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:210163633-210164292 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:210164293-210164952 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:210168954-210169953 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:210169954-210170952 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12291 Neighboring gene NANOG hESC enhancer GRCh37_chr2:210315845-210316346 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:210359703-210360902 Neighboring gene microtubule associated protein 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:210383815-210384500 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:210479322-210479919 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:210479920-210480516 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:210616149-210616706 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:210616707-210617263 Neighboring gene RNA, 5S ribosomal pseudogene 118 Neighboring gene NANOG hESC enhancer GRCh37_chr2:210638115-210638616 Neighboring gene unc-80 homolog, NALCN channel complex subunit Neighboring gene snail family zinc finger 1 pseudogene 1

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_082808.1 

    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
    209368720..209369919
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    209848591..209849790
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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