LOC106146151 int22h-2 recombination region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC106146151
Gene description: int22h-2 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 int22h-1 (intron 22 homologous region 1) recombination region, which is located about 500 kb centromere-proximal to this region. This region also contains an overlapping meiotic recombination hotspot. This region is in the same relative orientation as the int22h-1 recombination region. Complex rearrangements involving this region and the int22h-1 recombination region that disrupt the F8 gene have been observed in some individuals with severe hemophilia A, but this rearrangement is observed less frequently than the more common inversion event involving the int22h-1 and int22h-3 recombination regions. NAHR events between this region and the int22h-1 recombination region, leading to duplications and deletions of the intervening sequence have also been observed. The duplication event has been associated with cognitive impairment, distinctive facial features, and behavioral problems in males, while some females display cognitive impairment and skewed X chromosome inactivation. The reciprocal deletion has been observed in females, but not in males, suggesting that the deletion could cause embryonic lethality in males. [provided by RefSeq, Oct 2016]
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: Xq28

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (155376510..155386062)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (153614567..153624087)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (154606159..154615711)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

Go to the top of the page Help

Other Names

F8 int22h-2 recombination region
factor VIII intron 22 homologous region 2 recombination region
intron 22 homologous region 2 recombination region

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.