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LOC126806472 MED14-independent group 3 enhancer GRCh37_chr2:202903328-202904527 [ Homo sapiens (human) ]

Gene ID: 126806472, updated on 12-Sep-2024

Summary

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Gene symbol
LOC126806472
Gene description
MED14-independent group 3 enhancer GRCh37_chr2:202903328-202904527
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 associates with the NANOG transcription factor and is marked by the H3K27ac histone modification. [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC126806472 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 (202038605..202040133)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (202519476..202521034)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (202903328..202904856)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 440, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:202813665-202814208 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:202814209-202814750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:202827374-202827874 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:202827875-202828375 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16995 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:202835024-202835222 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:202838433-202839337 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:202860883-202861447 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:202863716-202864219 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:202864220-202864722 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:202885061-202885586 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:202887293-202888158 Neighboring gene Sharpr-MPRA regulatory region 624 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12239 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:202899462-202900302 Neighboring gene uncharacterized LOC124906114 Neighboring gene frizzled class receptor 7 Neighboring gene small nucleolar RNA U13 Neighboring gene KIAA2012 antisense RNA 1 Neighboring gene KIAA2012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16997

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

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • NANOG-H3K27ac hESC enhancer GRCh37_chr2:202904201-202904856

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_082792.2 

    Range
    101..1629
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    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
    202038605..202040133
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    202519476..202521034
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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