LOC114255744 ZRS shadow enhancer [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC114255744
Gene description: ZRS shadow enhancer
Gene type: biological region
Feature type(s): regulatory: enhancer, silencer
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: sZRS
Summary: This genomic region, which is located in an intron of the limb development membrane protein 1 (LMBR1) gene, can activate a minimal gata2 promoter in the zone of polarizing activity (ZPA) domain of developing fins in transgenic zebrafish. It is thought to be a shadow enhancer of the ZPA regulatory sequence (ZRS), which is also in the same LMBR1 intron and which regulates expression of the sonic hedgehog signaling molecule (SHH) gene during human limb development. Deletions of both the orthologous ZRS and shadow ZRS (sZRS) enhancers in the medaka genome suggest that both enhancer regions are necessary for sonic hedgehog gene expression and pectoral fin development. An accessible chromatin subregion was used in a lentiviral ReSE (repressive ability of silencer elements) screen that assays for cell survival based on transcriptional repression of an apoptosis-inducing fusion protein. That subregion was identified as a functional silencer in HepG2 liver carcinoma cells. [provided by RefSeq, Jun 2023]
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Genomic context

Location:: 7q

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (156765178..156768157)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (157952963..157955942)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (156557872..156560851)

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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Other Names

ReSE screen-validated silencer GRCh37_chr7:156557905-156558107

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.