LOC108942766 NANOG 5' regulatory region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC108942766
Gene description: NANOG 5' regulatory region
Gene type: biological region
Feature type(s): misc_feature: conserved_region
protein_bind
regulatory: DNase_I_hypersensitive_site, 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 represents the proximal promoter, a potential upstream promoter, and associated 5' regulatory regions of the Nanog homeobox gene. These sequences include DNase I hypersensitive sites and multiple highly conserved regions, including a short conserved motif that is predicted to bind to POU class homeobox and SRY-box containing proteins (Oct/Sox box). Activity of this promoter region is stimulated by Wnt/beta catenin, transforming growth factor beta, hypoxia, and androgen/androgen receptor, and may be inhibited by protein kinase C. This region may be epigenetically silenced by DNA cytosine methylation during differentiation. A subregion was also shown to be an enhancer by the ChIP-STARR-seq massively parallel reporter assay in primed human embryonic stem cells, where it associates with the OCT4 and NANOG transcription factors and is marked by the H3K27ac histone modification. [provided by RefSeq, Dec 2022]
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: chromosome: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (7785752..7789641)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (7800347..7804234)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (7938348..7942237)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

Go to the top of the page Help

Other Names

OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:7940221-7940910

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.