LOC117135106 TMPRSS2 androgen receptor-responsive -60 kb enhancer [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC117135106
Gene description: TMPRSS2 androgen receptor-responsive -60 kb enhancer
Gene type: biological region
Feature type(s): protein_bind
regulatory: enhancer, 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 an enhancer located approximately 60 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 an AR-responsive enhancer that can activate a heterologous promoter in transfected VCaP prostate cancer cells, and it also has non-AR-responsive activity in LNCaP cells. An AR binding site (ARBS) within this sequence can bind the AR protein in VCaP cells. [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 (41568581..41569154)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (39957770..39958343)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (42940508..42941081)

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.