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LOC109280161 TBX2 promoter region [ Homo sapiens (human) ]

Gene ID: 109280161, updated on 14-Mar-2024

Summary

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Gene symbol
LOC109280161
Gene description
TBX2 promoter region
Gene type
biological region
Feature type(s)
protein_bind
regulatory: 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 promoter of the T-box 2 gene. Activity of this promoter is regulated by binding of Sp1 transcription factor, nuclear transcription factor Y, paired box 3, and T-box 3 to recognition sites in this region. [provided by RefSeq, Dec 2016]
Orthologs
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Genomic context

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Location:
chromosome: 17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (61398800..61400060)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (62267667..62268927)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (59476161..59477421)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene BCAS3 microtubule associated cell migration factor Neighboring gene BCAS3 antisense RNA 1 Neighboring gene uncharacterized LOC124904041 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:59200454-59200632 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:59322561-59323086 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:59323087-59323612 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:59360941-59361441 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59392337-59392838 Neighboring gene Sharpr-MPRA regulatory region 10586 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:59429722-59430668 Neighboring gene Sharpr-MPRA regulatory region 2758 Neighboring gene uncharacterized LOC101927855 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59457237-59457737 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:59474489-59475040 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:59482769-59483666 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8796 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8797 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59487827-59488409 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8800 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8801 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59494097-59494644 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:59504513-59505712 Neighboring gene Sharpr-MPRA regulatory region 1503 Neighboring gene TBX2 antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 2875 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:59521182-59521392 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59529753-59530594 Neighboring gene uncharacterized LOC124904042 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:59531395-59532276 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:59532277-59533157 Neighboring gene T-box transcription factor 2 Neighboring gene T-box transcription factor 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Genetic analysis of the TBX2 gene promoter in indirect inguinal hernia. Zhang Y, et al. Hernia, 2014 Aug. PMID 24309999
  2. Novel and functional sequence variants within the TBX2 gene promoter in ventricular septal defects. Pang S, et al. Biochimie, 2013 Sep. PMID 23727221
  3. The anti-proliferative function of the TGF-β1 signaling pathway involves the repression of the oncogenic TBX2 by its homologue TBX3. Li J, et al. J Biol Chem, 2014 Dec 19. PMID 25371204, Free PMC Article
  4. Functional characterization of cis-acting elements involved in basal transcription of the human Tbx2 gene: a new insight into the role of Sp1 in transcriptional regulation. Teng H, et al. Gene, 2008 Oct 15. PMID 18640248
  5. TBX2 expression is regulated by PAX3 in the melanocyte lineage. Liu F, et al. Pigment Cell Melanoma Res, 2013 Jan. PMID 23020925, Free PMC Article

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

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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Homology

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.

Genomic

  1. NG_052563.1 

    Range
    101..1361
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    61398800..61400060
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    62267667..62268927
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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