LOC108021840 F2 enhancer upstream of SOX9 [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC108021840
Gene description: F2 enhancer upstream of SOX9
Gene type: biological region
Feature type(s): protein_bind
regulatory: enhancer
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 a conserved enhancer element located approximately 1.44 Mb upstream of the SRY-box 9 (SOX9) gene. This sequence drives expression of a transgene in the craniofacial region and is stimulated by binding of msh homeobox 1. This sequence may be disrupted in Pierre Robin sequence (PRS), a syndrome featuring cleft palate and other craniofacial abnormalities. [provided by RefSeq, Sep 2016]
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Genomic context

Location:: chromosome: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (70679938..70680186)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (71552535..71552783)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (68676079..68676327)

Chromosome 17 - NC_000017.11 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

highly conserved noncoding element (HCNE) F2

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.