LOC106728418 LEP 5' regulatory region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC106728418
Gene description: LEP 5' regulatory region
Gene type: biological region
Feature type(s): mobile_element
protein_bind
regulatory: TATA_box, enhancer, 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 region encompasses the proximal promoter and upstream regulatory elements of the leptin gene, including an enhancer in placental cells. The placental enhancer is derived from an endogenous retroviral long terminal repeat (LTR), and therefore represents an example of retroelement exaptation. Activity of the promoter is stimulated by hypoxia and insulin. This region is methylated and epigenetically-silenced in tissues that do not express leptin. Naturally-occuring common polymorphisms in this region (e.g. rs7799039; G-2548A) may affect activity of this promoter and correlate with obesity and other health measures. [provided by RefSeq, Jun 2016]
Orthologs: mouse all
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Genomic context

Location:: chromosome: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (128238356..128241306)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (129549821..129552771)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (127878409..127881359)

Chromosome 7 - NC_000007.14 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.