LOC117307477 CD209 promoter region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC117307477
Gene description: CD209 promoter region
Gene type: biological region
Feature type(s): protein_bind
regulatory: enhancer, promoter, 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 the proximal regulatory region of the CD209 (CD209 molecule, also known as DC-SIGN) gene, which encodes a receptor for several pathogens, including leprosy and tuberculosis mycobacteria, the Ebola, hepatitis C, HIV-1 and Dengue viruses, and the SARS-CoV acute respiratory syndrome coronavirus. This region functions as a promoter that drives CD209 transcription preferentially in myeloid dendritic cells. It contains several cis-regulatory regions and protein-binding sites, including binding sites for the PU.1, Sp1 and AP2 transcription factors, where PU.1 acts in cooperation with RUNX1, RUNX3 or Myb. This promoter can also be regulated by RUNX1 upon TNF-alpha induction via the mTOR pathway in renal proximal tubular epithelial cells. A subregion that associates with the NANOG transcription factor was validated as an active enhancer by ChIP-STARR-seq in primed human embryonic stem cells. Another subregion was validated as a functional repressive element by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin), with weaker repression in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 13:Ctcf, distal CTCF/candidate insulator without open chromatin). Several polymorphisms have been described within this region, where some are associated with altered gene expression and/or the severity of pathogen-causing diseases, including the rs4804803 -336A>G single nucleotide polymorphism that is associated with SARS severity, and which affects Sp1 and AP2 transcription factor binding. [provided by RefSeq, Nov 2022]
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_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (7747412..7749177)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (7748439..7750204)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (7812298..7814063)

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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Other Names

DC-SIGN promoter
NANOG hESC enhancer GRCh37_chr19:7813488-7813989
Sharpr-MPRA regulatory region 7484

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.