LOC118966792 dACE2 interferon-inducible promoter region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC118966792
Gene description: dACE2 interferon-inducible promoter region
Gene type: biological region
Feature type(s): misc_feature: nucleotide_motif
mobile_element
regulatory: 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 genomic region represents an alternative 5' regulatory region of the ACE2 (angiotensin I converting enzyme 2) gene, which encodes a functional receptor for human acute respiratory syndrome coronaviruses, including SARS-CoV and SARS-CoV-2 (COVID-19 virus). This promoter drives expression of a novel ACE2 transcript variant that encodes an N-terminally-truncated ACE2 isoform (dACE2 or MIRb-ACE2), which lacks carboxypeptidase activity and cannot bind the SARS-CoV-2 spike protein. In contrast to the upstream ACE2 5' regulatory region (LOC117134593), which is non-responsive to interferon (IFN) stimulation and drives expression of full-length ACE2, this promoter is inducible by both IFN-beta and IFN-gamma. It includes predicted IFN-stimulated gene (ISG)-type transcription factor binding sites, in addition to retroviral elements. [provided by RefSeq, Oct 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:: Xp

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (15580397..15581220)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (15163374..15164197)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (15598520..15599343)

Chromosome X - NC_000023.11 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

MIRb-ACE2 retroelement-containing promoter

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.