U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC113219431 greater CFTR locus negative regulatory element CR5 [ Homo sapiens (human) ]

Gene ID: 113219431, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC113219431
Gene description
greater CFTR locus negative regulatory element CR5
Gene type
biological region
Feature type(s)
regulatory: enhancer_blocking_element
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 an intron of the MET (MET proto-oncogene, receptor tyrosine kinase) gene in the greater CFTR locus on chromosome 7, represents an enhancer-blocking element that was shown to strongly block activation of a gamma-globin promoter by the HS2 beta-globin enhancer when positioned between the enhancer and promoter in transfected K562 cells. [provided by RefSeq, Sep 2018]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See LOC113219431 in Genome Data Viewer
Location:
7q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (116704761..116705488)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (118019870..118020597)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (116344815..116345542)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18557 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18558 Neighboring gene Sharpr-MPRA regulatory region 15503 Neighboring gene caveolin 1 Neighboring gene Sharpr-MPRA regulatory region 6449 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18559 Neighboring gene greater CFTR locus negative regulatory element NR2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26535 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26536 Neighboring gene cytosolic oncogenic antisense to MET transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26537 Neighboring gene MPRA-validated peak6696 silencer Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:116273493-116274692 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18561 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18562 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18560 Neighboring gene greater CFTR locus negative regulatory element CR3 Neighboring gene MET proto-oncogene, receptor tyrosine kinase Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:116363882-116365081 Neighboring gene uncharacterized LOC124901824 Neighboring gene greater CFTR locus negative regulatory element CR6 Neighboring gene greater CFTR locus negative regulatory element CR8 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:116412324-116413523 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:116416081-116417280 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:116420832-116421760 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:116421761-116422688 Neighboring gene uncharacterized LOC124901731

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

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

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

Go to the top of the page Help

Other Names

  • greater CFTR locus enhancer-blocking element CR5

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_061699.1 

    Range
    101..828
    Download
    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
    116704761..116705488
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    118019870..118020597
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases