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LOC109611593 RUNX2 P1 promoter region [ Homo sapiens (human) ]

Gene ID: 109611593, updated on 14-Mar-2024

Summary

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Gene symbol
LOC109611593
Gene description
RUNX2 P1 promoter region
Gene type
biological region
Feature type(s)
protein_bind
regulatory: enhancer, 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 P1 promoter of the runt related transcription factor 2 (RUNX2) gene. This promoter is regulated by binding of Runx2, Trps1, estrogen receptor, and thyroid hormone receptor, among other factors. Naturally-occurring polymorphisms in this region may be associated with bone and skeletal disorders. [provided by RefSeq, Jan 2017]
Orthologs
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Genomic context

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See LOC109611593 in Genome Data Viewer
Location:
chromosome: 6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (45327048..45328652)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (45161853..45163456)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (45294785..45296389)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene SPT3 homolog, SAGA and STAGA complex component Neighboring gene poly(rC) binding protein 2 pseudogene Neighboring gene MPRA-validated peak5821 silencer Neighboring gene microRNA 586 Neighboring gene MPRA-validated peak5822 silencer Neighboring gene MPRA-validated peak5825 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17265 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:45345603-45346146 Neighboring gene RUNX family transcription factor 2 Neighboring gene uncharacterized LOC124901324 Neighboring gene runt related transcription factor 2 polyalanine expansion region Neighboring gene NANOG hESC enhancer GRCh37_chr6:45413685-45414186 Neighboring gene Sharpr-MPRA regulatory region 695 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:45487956-45488510 Neighboring gene Sharpr-MPRA regulatory region 12811 Neighboring gene RUNX2 antisense RNA 1

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. Gene promoter polymorphism of RUNX2 and risk of osteoporosis in postmenopausal Indonesian women. Auerkari EI, et al. SAGE Open Med, 2014. PMID 26770724, Free PMC Article
  2. Different Methylation Patterns of RUNX2, OSX, DLX5 and BSP in Osteoblastic Differentiation of Mesenchymal Stem Cells. Farshdousti Hagh M, et al. Cell J, 2015 Spring. PMID 25870836, Free PMC Article
  3. Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation. Napierala D, et al. Mol Genet Metab, 2005 Sep-Oct. PMID 16140555
  4. Regulation of human cbfa1 gene transcription in osteoblasts by selective estrogen receptor modulators (SERMs). Tou L, et al. Mol Cell Endocrinol, 2001 Oct 25. PMID 11604227
  5. RUNX3 promoter hypermethylation is frequent in leukaemia cell lines and associated with acute myeloid leukaemia inv(16) subtype. Estécio MR, et al. Br J Haematol, 2015 May. PMID 25612675, Free PMC Article

See all (22) 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

Other Names

  • Runx2-II promoter

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_052667.1 

    Range
    101..1705
    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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    45327048..45328652
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    45161853..45163456
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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