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HHC2:066588 HHc2:066588 enhancer in MEIS1 [ Homo sapiens (human) ]

Gene ID: 111258505, updated on 17-Sep-2024

Summary

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Gene symbol
HHC2:066588
Gene description
HHc2:066588 enhancer in MEIS1
Gene type
biological region
Feature type(s)
regulatory: DNase_I_hypersensitive_site, enhancer, silencer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This region includes an enhancer and DNase I hypersensitive site located within the MEIS1 gene region. The enhancer was shown to drive expression of a reporter transgene in the zebrafish developing nervous system. A subregion was also validated as a functional repressive element by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 cells (group: K562 Repressive non-DNase unmatched - State 15:Elon, transcription elongation, stronger H3K36me3, more exonic). [provided by RefSeq, Oct 2021]
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Genomic context

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See HHC2:066588 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 (66442440..66444210)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (66451516..66453286)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (66669572..66671342)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene MEIS1 5' regulatory region Neighboring gene MEIS1 antisense RNA 3 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:66666573-66667772 Neighboring gene E2 enhancer in MEIS1 Neighboring gene MEIS1 antisense RNA 2 Neighboring gene E5 enhancer in MEIS1 Neighboring gene Meis homeobox 1 Neighboring gene HHc2:066628 enhancer in MEIS1 Neighboring gene E7 enhancer in MEIS1 Neighboring gene HCNR606 enhancer in MEIS1 Neighboring gene uncharacterized LOC124900511 Neighboring gene HHc2:066650 enhancer in MEIS1 Neighboring gene HCNR617 enhancer in MEIS1 Neighboring gene HHc2:066659 enhancer in MEIS1 Neighboring gene HHc2:067135 enhancer in MEIS1 Neighboring gene HHc2:067347 enhancer downstream of MEIS1 Neighboring gene long intergenic non-protein coding RNA 1798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:66874822-66875386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:66875387-66875950

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. Delineating MEIS1 cis-regulatory elements active in hematopoietic cells. Xiang P, et al. Leukemia, 2014 Feb. PMID 24097337
  2. Identification and analysis of conserved cis-regulatory regions of the MEIS1 gene. Royo JL, et al. PLoS One, 2012. PMID 22448256, Free PMC Article
  3. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, 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

  • Sharpr-MPRA regulatory region 9717

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_055600.2 

    Range
    101..1871
    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
    66442440..66444210
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    66451516..66453286
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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