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LOC126806380 BRD4-independent group 4 enhancer GRCh37_chr2:154449049-154450248 [ Homo sapiens (human) ]

Gene ID: 126806380, updated on 12-Sep-2024

Summary

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Gene symbol
LOC126806380
Gene description
BRD4-independent group 4 enhancer GRCh37_chr2:154449049-154450248
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, where it was defined as a group 4 enhancer that depends on the BRD2, P300/CBP, MED14 and CDK7 cofactors, but it has limited or no dependence on the BRD4 bromodomain protein. A subregion was also validated as an enhancer by ChIP-STARR-seq in primed human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. [provided by RefSeq, Dec 2022]
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Genomic context

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See LOC126806380 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 (153592536..153593735)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (154045088..154046287)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (154449049..154450248)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene polypeptide N-acetylgalactosaminyltransferase 13 Neighboring gene small nucleolar RNA SNORD56 Neighboring gene NANOG hESC enhancer GRCh37_chr2:154316044-154316575 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:154333443-154333946 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:154333947-154334450 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:154334451-154334954 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12014 Neighboring gene NANOG hESC enhancer GRCh37_chr2:154352121-154352622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:154354490-154355011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:154355012-154355532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:154355799-154356300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:154365323-154365825 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:154391191-154391794 Neighboring gene NANOG hESC enhancer GRCh37_chr2:154400187-154400737 Neighboring gene reprimo, TP53 dependent G2 arrest mediator homolog Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:154575691-154576266 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:154576267-154576842 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:154621524-154622079 Neighboring gene DnaJ heat shock protein family (Hsp40) member A1 pseudogene 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:154747006-154747567 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:154769701-154770201 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:155097618-155098817 Neighboring gene PHB1 pseudogene 4

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

  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:154449121-154449710

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_082700.1 

    Range
    101..1300
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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
    153592536..153593735
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    154045088..154046287
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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