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SOX9CRE1 SOX9 enhancer cre1 [ Homo sapiens (human) ]

Gene ID: 108021841, updated on 10-Oct-2023

Summary

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Gene symbol
SOX9CRE1
Gene description
SOX9 enhancer cre1
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 an enhancer that is thought to regulate expression of the SRY-box 9 (SOX9) gene, located greater than 1 Mb downstream. This sequence is regulated by sonic hedgehog through binding by GLI family zinc finger 1. [provided by RefSeq, Jun 2016]
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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 (71011694..71013769)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (71884379..71886454)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (69007835..69009910)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371884 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:68859717-68860916 Neighboring gene NANOG hESC enhancer GRCh37_chr17:68865615-68866532 Neighboring gene uncharacterized LOC124904104 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:68983705-68984206 Neighboring gene VISTA enhancer hs1467 Neighboring gene SERPINE1 mRNA binding protein 1 pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:69028546-69029302 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:69029303-69030057 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:69067578-69068777 Neighboring gene enhancer upstream of SOX9 Neighboring gene cancer susceptibility 17 Neighboring gene RNA, U7 small nuclear 155 pseudogene

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. Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. Velagaleti GV, et al. Am J Hum Genet, 2005 Apr. PMID 15726498, Free PMC Article
  2. A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures. Smyk M, et al. Am J Med Genet A, 2015 Aug. PMID 26059046
  3. SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway. Bien-Willner GA, et al. Hum Mol Genet, 2007 May 15. PMID 17409199
  4. Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter. Smyk M, et al. Chromosome Res, 2013 Dec. PMID 24254229
  5. Long-range regulation at the SOX9 locus in development and disease. Gordon CT, et al. J Med Genet, 2009 Oct. PMID 19473998

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)

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_050871.1 

    Range
    101..2176
    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
    71011694..71013769
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    71884379..71886454
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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