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LOC106799834 CYP11B2 recombination region [ Homo sapiens (human) ]

Gene ID: 106799834, updated on 17-Sep-2024

Summary

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Gene symbol
LOC106799834
Gene description
CYP11B2 recombination region
Gene type
biological region
Feature type(s)
misc_feature: nucleotide_motif
misc_recomb: meiotic, non_allelic_homologous
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This region is known to undergo non-allelic homologous recombination (NAHR) with a similar low-copy repeat region, the CYP11B1 recombination region, located about 34 kb centromere-proximal this region, in direct orientation on the reference genome. Duplications and deletions of the intervening sequence as a result of NAHR between these recombination regions have been observed. Duplications can result in a chimeric CYP11B1-CYP11B2 gene, and is a cause of familial hyperaldosteronism type I (FH-I), an autosomal dominant disorder characterized by an overproduction of aldosterone, causing hypertension. The chimeric CYP11B1-CYP11B2 gene displays aldosterone synthase activity that is regulated by adrenocorticotropic hormone (ACTH) rather than angiostensin II. This disorder is also known as glucocorticoid-remediable aldosteronism (GRA) since it can be treated by administering glucocorticoids. NAHR events between this region and the CYP11B2 recombination region can also result in deletions of the intervening sequence, and formation of a CYP11B2-CYP11B1 chimeric gene, and can be a cause of 11-beta-hydroxylase congenital adrenal hyperplasia (11beta-OH CAH), an autosomal recessive disorder. The CYP11B2-CYP11B1 chimera is regulated by angiotensin II and potassium, instead of ACTH. A meiotic recombination hotspot has also been mapped to this region, and HapMap data shows a slight elevation in recombination frequencies. [provided by RefSeq, Oct 2016]
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Genomic context

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See LOC106799834 in Genome Data Viewer
Location:
8q21-q22
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (142903458..142918174)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (144046799..144061503)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (143984874..143999590)

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 promoter 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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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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Other Names

  • cytochrome P450, family 11, subfamily B, polypeptide 2 recombination region

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_046133.1 

    Range
    101..14817
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    142903458..142918174
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    144046799..144061503
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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