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LOC108004545 SOX9 testis enhancer F8 [ Homo sapiens (human) ]

Gene ID: 108004545, updated on 10-Oct-2023

Summary

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Gene symbol
LOC108004545
Gene description
SOX9 testis enhancer F8
Gene type
biological region
Feature type(s)
misc_feature: conserved_region
regulatory: enhancer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CNE2
Summary
This region contains an enhancer that is thought to regulate expression of the SRY-box 9 gene, located approximately 600 kb downstream. This sequence is conserved between human and mouse, and responds synergistically to sex determining region Y (SRY) and Wilms tumor 1 to drive expression in male reproductive cells. Duplication or deletion of this region can cause disorders in sex determination. [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 (71492376..71495237)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (72364982..72367844)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (69488517..69491378)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:69297407-69297907 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:69300220-69300720 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:69300721-69301221 Neighboring gene U6 spliceosomal RNA Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:69314163-69314663 Neighboring gene RNA, U7 small nuclear 155 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:69353619-69354118 Neighboring gene SOX9 enhancer enh3 Neighboring gene eSR-A sex determination enhancer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:69518499-69519033 Neighboring gene reversal of sex (RevSex) determining region Neighboring gene MYL6 pseudogene 5 Neighboring gene SOX9 enhancer enh4 Neighboring gene SOX9 enhancer enh5 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:69824267-69824886 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:69841665-69842864 Neighboring gene SOX9 enhancer enh6 Neighboring gene SOX9 enhancer enh7 Neighboring gene SOX9 enhancer E3 Neighboring gene uncharacterized LOC107985015 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:69867322-69868521

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. Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD). Hyon C, et al. Am J Med Genet A, 2015 Aug. PMID 25900885
  2. Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development. Kim GJ, et al. J Med Genet, 2015 Apr. PMID 25604083
  3. Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. Benko S, et al. J Med Genet, 2011 Dec. PMID 22051515
  4. RevSex duplication-induced and sex-related differences in the SOX9 regulatory region chromatin landscape in human fibroblasts. Lybæk H, et al. Epigenetics, 2014 Mar. PMID 24351654, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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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Other Names

  • conserved non-coding element CNE2

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_050863.1 

    Range
    101..2962
    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
    71492376..71495237
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    72364982..72367844
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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