LOC109136576 FGF8 5' regulatory region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC109136576
Gene description: FGF8 5' regulatory region
Gene type: biological region
Feature type(s): protein_bind
regulatory: enhancer, promoter, silencer
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 promoter and nearby regulatory elements of the fibroblast growth factor 8 (FGF8) gene. Activity of this promoter is regulated by association of the retinoic acid receptor, androgen receptor, and T-box 1 with this region. Three subregions were shown to be active enhancers by ChIP-STARR-seq in naive human embryonic stem cells, where all are marked by the H3K27ac and H3K4me1 histone modifications and two are additionally associated with the NANOG transcription factor. A conserved subregion can activate a Hsp68 promoter coupled to a LacZ reporter gene in embryonic cranial nerve and dorsal root ganglion of transgenic mice. Another subregion was validated as a functional enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in both HepG2 liver carcinoma cells (group: HepG2 Activating DNase matched - State 8:EnhW, candidate weak enhancer and open chromatin) and K562 cells (group: K562 Activating DNase unmatched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). This locus also includes two accessible chromatin subregions, one of which was validated as an enhancer and the other as a silencer based on their ability to activate or repress an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

Location:: 10q

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (101775919..101781446)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (102659416..102664941)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (103535676..103541203)

Chromosome 10 - NC_000010.11 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

ATAC-STARR-seq lymphoblastoid active region 3916
ATAC-STARR-seq lymphoblastoid silent region 2726
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:103535952-103536770
NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:103538537-103539434
NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:103539435-103540332
Sharpr-MPRA regulatory region 2932
VISTA enhancer hs513

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.