LOC107980445 PAX3 promoter region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC107980445
Gene description: PAX3 promoter region
Gene type: biological region
Feature type(s): misc_feature: conserved_region
regulatory: TATA_box, 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 encompasses the proximal promoter of the paired box 3 gene. It includes an upstream region that may function as a negative regulatory element as well as sequences related to enhancers characterized at the orthologous mouse locus. Association of Stat3 (signal transducer and activator of transcription 3) promotes activity of this region. [provided by RefSeq, May 2016]
Orthologs: mouse all
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Genomic context

Location:: chromosome: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (222298598..222300448)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (222783724..222785582)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (223163317..223165167)

Chromosome 2 - NC_000002.12 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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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.