FRA2A fragile site, folic acid type, rare, fra(2)(q11.2) [Homo sapiens (human)] - Gene

Summary

Official Symbol: FRA2Aprovided by HGNC
Official Full Name: fragile site, folic acid type, rare, fra(2)(q11.2)provided by HGNC
Primary source: HGNC:HGNC:3885
See related: AllianceGenome:HGNC:3885
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
Summary: This biological region is found within a region thought to be an alternative promoter of the AF4/FMR2 family member 3 (AFF3) gene on the q arm of chromosome 2. This region is a folate-sensitive fragile site and contains a CGG/CCG trinucleotide repeat. Expansions of this repeat are thought to be associated with intellectual disability. Allelic variation occurs in this region, with repeat sizes of about 3-20 observed in individuals who show no phenotypic consequences. Repeat expansions are associated with CpG hypermethylation and reduced expression of the AFF3 gene product. [provided by RefSeq, Nov 2016]
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Genomic context

Location:: 2q11.2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (100104799..100104824)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (100563713..100563738)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (100721261..100721286)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

FRA2A-expressing individuals have mosaic expansions of the AFF3 CGG repeat.
Title: FRA2A is a CGG repeat expansion associated with silencing of AFF3.

Submit: New GeneRIF Correction

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 3 repeat instability region
AFF3 repeat instability region
FRA2A repeat instability region
fragile site, folic acid type, rare, fra(2)(q11.2) 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.