LOC106014249 PAX6 upstream regulatory region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC106014249
Gene description: PAX6 upstream 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 cis-acting enhancers and other elements that regulate transcription from the P0 and P1 promoters of the paired box 6 (PAX6) gene. These elements are bound by transcription factors such as Tfcp2 (transcription factor CP2). Binding by the Pax6 protein may allow for autoregulation of PAX6 transcription. Studies of the corresponding sequence in mouse suggest that enhancers in this region may function to direct expression of PAX6 to specific tissues, such as the lens and pancreas. Five subregions were validated as active enhancers by ChIP-STARR-seq in human embryonic stem cells, where one is associated with both the OCT4 and NANOG transcription factors, two are marked by the H3K27ac and H3K4me1 histone modifications, one is marked by H3K4me1 only, and one is associated with NANOG and marked by both H3K27ac and H3K4me1. [provided by RefSeq, Nov 2022]
Orthologs: mouse all
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Genomic context

Location:: 11p13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (31810888..31827240)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (31946695..31963048)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (31832436..31848787)

Chromosome 11 - NC_000011.10 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

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:31834113-31835081
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:31837143-31837904
H3K4me1 hESC enhancer GRCh37_chr11:31839426-31840185
NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:31844867-31845426
OCT4-NANOG hESC enhancer GRCh37_chr11:31832436-31833005

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.