LOC117134604 TMPRSS2 promoter region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC117134604
Gene description: TMPRSS2 promoter region
Gene type: biological region
Feature type(s): misc_structure
protein_bind
regulatory: enhancer, promoter, transcriptional_cis_regulatory_region
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 the 5'-proximal promoter region 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 promoter 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 promoter subregion was shown to drive expression of TMPRSS2 by reporter assays in A549 lung adenocarcinoma cells, with positive regulation by the Sp1 and EGR1 transcription factors. Those transcription factors bind to a guanine-rich cis-regulatory element that can adopt a G-quadruplex structure in the presence of potassium ions. Compounds that stabilize that structure can repress promoter activity and inhibit influenza A virus propagation in vitro, and they are thus candidates for anti-viral small molecule drugs. An overlapping fragment within this genomic region was validated as a functional enhancer that can activate an SV40 promoter in reporter assays in LNCaP prostate cancer cells. The enhancer subregion was also shown to weakly associate with AR, and it forms chromatin looping interactions with an AR-responsive enhancer located approximately 13 kb upstream of the TMPRSS2 gene. [provided by RefSeq, May 2020]
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 (41507255..41509135)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (39896788..39898668)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (42879182..42881062)

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

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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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General gene information

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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.