FRAXE fragile site, folic acid type, rare, fra(X)(q28) E [Homo sapiens (human)] - Gene

Summary

Official Symbol: FRAXEprovided by HGNC
Official Full Name: fragile site, folic acid type, rare, fra(X)(q28) Eprovided by HGNC
Primary source: HGNC:HGNC:3949
See related: AllianceGenome:HGNC:3949
Gene type: biological region
Feature type(s): misc_feature: repeat_instability_region
repeat_region
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FMR2
Summary: This biological region is found near the 5' regulatory region of the AF4/FMR2 family member 2 (AFF2) gene on the q arm of the X chromosome. This region is a rare folate-sensitive fragile site and contains a highly polymorphic (CCG)n repeat, with most normal alleles containing less than 25 triplet repeat units. Expansion of the CCG/CGG repeat to copy numbers greater than 200 has been observed and causes fragility at this site. Hypermethylation of a CpG island near the expanded allele can lead to transcriptional silencing of the AFF2 gene. Intellectual disability has been observed in some individuals with the expanded allele, but a wide range of clinical manifestations have also been reported. [provided by RefSeq, Dec 2016]
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Genomic context

Location:: Xq28

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (148500602..148500743)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (146765188..146765332)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (147582122..147582263)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

analysis of the late origin of DNA replication in the trinucleotide repeat region of the human FMR2 gene
Title: A late origin of DNA replication in the trinucleotide repeat region of the human FMR2 gene.
FRAXE intermediate alleles were found in 6.4% of subjects with Parkinson's disease and in only one of the 370 healthy controls
Title: FRAXE intermediate alleles are associated with Parkinson's disease.
two brothers diagnosed with FRAXE in whom a small deletion in the FMR2 gene was detected by whole genome array comparative genomic hybridization
Title: Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.
FRAXE intermediate alleles do not seem to affect the risk for Parkinson's disease or modify clinical features in Parkinson's disease
Title: Intermediate alleles at the FRAXA and FRAXE loci in Parkinson's disease.
Observational study of gene-disease association. (HuGE Navigator)
Title: [Polymorphism of CGG repeats in the FRAXE fragile site in the Qinba Mountain area children and its association with intelligence].
Observational study of genetic testing. (HuGE Navigator)
Title: Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders.
Observational study of genotype prevalence. (HuGE Navigator)
Title: Fragile X syndrome: a clinico-genetic study of mentally retarded patients in Kuwait.

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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

AF4/FMR2 family member 2 repeat instability region
AFF2 repeat instability region
FMR2 repeat instability region
FRAXE repeat instability region
fragile site, folic acid type, rare, fra(X)(q28) E repeat instability 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.