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LOC110673971 CYP11B2 promoter [ Homo sapiens (human) ]

Gene ID: 110673971, updated on 15-Mar-2024

Summary

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Gene symbol
LOC110673971
Gene description
CYP11B2 promoter
Gene type
biological region
Feature type(s)
misc_feature: conserved_region, sequence_alteration
mobile_element
protein_bind
regulatory: TATA_box, enhancer, promoter
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 cytochrome P450 family 11 subfamily B member 2 (CYP11B2) gene. Activity of this promoter is induced by angiotensin II and potassium and cyclic AMP through the association of nuclear receptor family members to multiple recognition sites in this sequence. Nuclear receptor subfamily 4 group A members 1 and 2 positively regulate promoter activity, which may be attenuated by nuclear receptor subfamily 5 group A member 1 (Nr5a1/Sf1). An Alu retroelement in the distal region may function as an enhancer of promoter activity. A naturally-occurring sequence polymorphism, rs1799998, affects a binding site for nuclear receptor family members, and was shown to be associated with hypertension. [provided by RefSeq, Jul 2017]
Orthologs
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Genomic context

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Location:
chromosome: 8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (142917842..142919862)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (144061171..144063185)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (143999258..144001278)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene zinc finger HIT-type containing 1 pseudogene 1 Neighboring gene CYP11B1 recombination region Neighboring gene CYP11B1 promoter Neighboring gene cytochrome P450 family 11 subfamily B member 1 Neighboring gene CYP11B2 recombination region Neighboring gene cytochrome P450 family 11 subfamily B member 2 Neighboring gene uncharacterized LOC105375794 Neighboring gene Sharpr-MPRA regulatory region 5092 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144033761-144034332 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:144063636-144063766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144070153-144070654 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144073720-144074227 Neighboring gene LY6E divergent transcript Neighboring gene CDC42 pseudogene 3

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. A ubiquitin-proteasome inhibitor bortezomib suppresses the expression of CYP11B2, a key enzyme of aldosterone synthesis. Ito R, et al. Biochem Biophys Res Commun, 2017 Jul 15. PMID 28533088
  2. Angiotensin II receptor blockers differentially affect CYP11B2 expression in human adrenal H295R cells. Matsuda K, et al. Mol Cell Endocrinol, 2014 Mar 5. PMID 24333837
  3. On the control of the hCYP11B2 gene expressing cytochrome P450 aldosterone synthase. LeHoux JG, et al. Endocr Res, 2004 Nov. PMID 15666830
  4. The regulation of aldosterone synthase expression. Bassett MH, et al. Mol Cell Endocrinol, 2004 Mar 31. PMID 15134803
  5. Aldosterone synthase (CYP11B2) -344 C/T polymorphism is associated with left ventricular structure in human arterial hypertension. Delles C, et al. J Am Coll Cardiol, 2001 Mar 1. PMID 11693765

See all (41) 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_055453.1 

    Range
    101..2121
    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    142917842..142919862
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    144061171..144063185
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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