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LOC106146152 int22h-3 recombination region [ Homo sapiens (human) ]

Gene ID: 106146152, updated on 10-Oct-2023

Summary

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Gene symbol
LOC106146152
Gene description
int22h-3 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 similar low-copy repeat regions, the int22h-1 and int22h-2 (intron 22 homologous regions 1 and 2) recombination regions, located about 575 kb and 75 kb centromere-proximal to this region, respectively. This region overlaps the H2A histone family member B2 (H2AB2), coagulation factor VIII-associated 2 (F8A2), and microRNA 1184-2 (MIR1184-2) genes and contains a meiotic recombination hotspot. NAHR with int22h-3 results in inversions that disrupt the coagulation factor VIII, procoagulant component (F8) gene, resulting in severe hemophilia A. This inversion event is known as a type I inversion, and is the most commonly observed inversion amongst individuals with severe hemophilia A. The int22h-2 and int22h-3 recombination regions are part of a larger imperfect palindrome, and inversions between in22h-2 and int22h-3 have also been observed. [provided by RefSeq, Mar 2017]
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Genomic context

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See LOC106146152 in Genome Data Viewer
Location:
Xq28
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (155454648..155464204)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (153692680..153702206)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (154684309..154693865)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene int22h-2 recombination region Neighboring gene microRNA 1184-2 Neighboring gene H2A.B variant histone 2 Neighboring gene coagulation factor VIII associated 2 Neighboring gene microRNA 1184-3 Neighboring gene TMLHE antisense RNA 1 Neighboring gene H2A.B variant histone 3 Neighboring gene coagulation factor VIII associated 3 Neighboring gene trimethyllysine hydroxylase, epsilon Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30078 Neighboring gene sprouty RTK signaling antagonist 3 Neighboring gene meiotic recombination hotspot PAR2A Neighboring gene meiotic recombination hotspot PAR2

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. Functional Correction of Large Factor VIII Gene Chromosomal Inversions in Hemophilia A Patient-Derived iPSCs Using CRISPR-Cas9. Park CY, et al. Cell Stem Cell, 2015 Aug 6. PMID 26212079
  2. Novel characterization of a breakpoint in F8: an individualized approach to gene analysis when PCR and MLPA results contradict. Pezeshkpoor B, et al. Haemophilia, 2015 May. PMID 25622659
  3. Separation of intron 22 inversion type 1 and 2 of hemophilia A by modified inverse-shifting polymerase chain reaction and capillary gel electrophoresis. Pan TY, et al. Talanta, 2014 Dec. PMID 25159417
  4. Genotyping of intron 22 inversion of factor VIII gene for diagnosis of hemophilia A by inverse-shifting polymerase chain reaction and capillary electrophoresis. Pan TY, et al. Anal Bioanal Chem, 2014 Sep. PMID 24994666
  5. New protocol for detection of intron 22 inversion mutation from cases with hemophilia A. Kumar P, et al. Clin Appl Thromb Hemost, 2015 Apr. PMID 24057397

See all (19) 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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Other Names

  • F8 int22h-1 recombination region
  • factor VIII intron 22 homologous region 3 recombination region
  • intron 22 homologous region 3 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_042814.1 

    Range
    101..9657
    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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    155454648..155464204
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    153692680..153702206
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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