LOC117135105 TMPRSS2 E4 enhancer [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC117135105
Gene description: TMPRSS2 E4 enhancer
Gene type: biological region
Feature type(s): regulatory: 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 locus represents an enhancer located approximately 28 kb upstream of the TMPRSS2 (transmembrane serine protease 2) gene, which functions as an entry gene for human coronaviruses, including SARS-CoV and SARS-CoV-2 (COVID-19 virus). The extended TMPRSS2 5' regulatory region is responsive to androgen receptor (AR), and it drives expression of a TMPRSS2-ERG or TMPRSS2-ETV1 oncogenic fusion gene in androgen-dependent prostate cancers. This subregion functions as a non-AR-responsive enhancer that can activate a heterologous promoter in transfected LNCaP and VCaP prostate cancer cells. An overlapping accessible chromatin subregion was used in a lentiviral ReSE (repressive ability of silencer elements) screen that assays for cell survival based on transcriptional repression of an apoptosis-inducing fusion protein. That subregion was identified as a functional silencer in phorbol 12-myristate 13-acetate-treated (for megakaryocytic differentiation) K562 erythroleukemia cells. [provided by RefSeq, Jun 2023]
Annotation information: Note: This locus has been reviewed for its involvement in coronavirus biology, and is involved in host gene regulation.
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Genomic context

Location:: 21q

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (41535944..41536955)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (39925481..39926493)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (42907871..42908882)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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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

ReSE screen-validated silencer GRCh37_chr21:42908593-42908754

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.