LOC117134607 TMPRSS2 repressive element NBS4 [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC117134607
Gene description: TMPRSS2 repressive element NBS4
Gene type: biological region
Feature type(s): regulatory: silencer, 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 a segment of the 5' regulatory 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 subregion, which is located 10.6 kb upstream of the gene, includes a binding site for the androgen-inducible NKX3-1 (NK3 homeobox 1) tumor suppressor. It was shown to repress activity of a heterologous promoter in reporter gene assays in HEK293 cells, whereas mutation of the core binding site resulted in loss of the repressive effect. [provided by RefSeq, Apr 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 (41518773..41518846)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (39908313..39908386)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (42890700..42890773)

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

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General gene information

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Other Names

NKX3.1 binding site 4 in TMPRSS2 5' regulatory region

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.