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LOC113219437 greater CFTR locus negative regulatory element CR2 [ Homo sapiens (human) ]

Gene ID: 113219437, updated on 10-Oct-2023

Summary

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Gene symbol
LOC113219437
Gene description
greater CFTR locus negative regulatory element CR2
Gene type
biological region
Feature type(s)
regulatory: enhancer_blocking_element, silencer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This conserved genomic region, which is located in the greater CFTR locus on chromosome 7, can function as both a silencer and an enhancer-blocking element. In transfected K562 cells, it showed modest silencing for reporter constructs with an SV40 promoter coupled to the HS2 beta-globin enhancer, and also modest enhancer-blocking activity for constructs with a gamma-globin promoter and HS2 enhancer, when positioned between the enhancer and promoter. [provided by RefSeq, Sep 2018]
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Genomic context

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Location:
7q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (116448434..116448761)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (117763480..117763807)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (116088488..116088815)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724434 Neighboring gene uncharacterized LOC105375463 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26531 Neighboring gene Sharpr-MPRA regulatory region 1934 Neighboring gene uncharacterized LOC124900233 Neighboring gene VISTA enhancer hs2071 Neighboring gene uncharacterized LOC107986838 Neighboring gene greater CFTR locus negative regulatory element NR1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:116082532-116083731 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:116138807-116139308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26532 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18556 Neighboring gene Sharpr-MPRA regulatory region 4219 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26533 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26534 Neighboring gene Sharpr-MPRA regulatory region 9016 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18557 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18558 Neighboring gene caveolin 2 Neighboring gene Sharpr-MPRA regulatory region 15503 Neighboring gene caveolin 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. Detection and characterization of silencers and enhancer-blockers in the greater CFTR locus. Petrykowska HM, et al. Genome Res, 2008 Aug. PMID 18436892, Free PMC Article
  2. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074

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

  • greater CFTR locus silencer and enhancer-blocking element CR2

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_061704.1 

    Range
    101..428
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    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    116448434..116448761
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    117763480..117763807
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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