LOC131520253 SOX9 enhancer eALDI [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC131520253
Gene description: SOX9 enhancer eALDI
Gene type: biological region
Feature type(s): regulatory: enhancer, 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 genomic region is located approximately 15.7 kb upstream of the SOX9 (SRY-box transcription factor 9) gene on chromosome 17. It was validated as an enhancer based on its ability to activate a minimal beta-globin promoter by reporter assays in COS-7 monkey kidney cells and TM4 Sertoli testicular cells cotransfected with either SRY plus SF1 or SOX9 plus SF1, and also in HEK293T human embryonic kidney cells and TM3 Leydig testicular cells cotransfected with SRY plus SF1. This enhancer contains an SRY motif that was shown to be important for activity in COS-7 cells cotransfected with either SF1 plus SOX9 or SF1 plus SRY, while it is repressed by FOXL2. Furthermore, this eALDI enhancer displayed synergistic activity with the upstream eSR-A and eSR-B/RevSex in the presence of SOX9 plus SF1, suggesting that these enhancers may function cooperatively to regulate transcription of the SOX9 gene. [provided by RefSeq, Aug 2023]
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Genomic context

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Location:: 17q

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (72104099..72105357)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (72977296..72978554)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (70100240..70101498)

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

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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

Alternate Long-Distance Initiator (eALDI) of SOX9

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.