LOC117307478 CLEC4M promoter region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC117307478
Gene description: CLEC4M promoter region
Gene type: biological region
Feature type(s): 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 locus represents the proximal regulatory region of the CLEC4M (C-type lectin domain family 4 member M, also known as DC-SIGNR, CD209L or L-SIGN) gene, which encodes a receptor for several pathogens, including the SARS-CoV acute respiratory syndrome coronavirus. Two overlapping subregions with promoter function were validated by reporter assays in HeLa epithelial cells, Jurkat CD4+ T cells and KG-1 myelomonocytic cells. A single nucleotide polymorphism within this region, rs2287887, which is associated with mother-to-child transmission of HIV-1, was shown to affect promoter activity in HeLa 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:: 19p

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (7762552..7763564)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (7763571..7764583)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (7827438..7828450)

Chromosome 19 - NC_000019.10 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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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.