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Gene: AFF2 (AF4/FMR2 family member 2) Homo sapiens
Symbol: AFF2
Name: AF4/FMR2 family member 2
Description: This gene encodes a putative transcriptional activator that is a member of the AF4\FMR2 gene family. This gene is associated with the folate-sensitive fragile X E locus on chromosome X. A repeat polymorphism in the fragile X E locus results in silencing of this gene causing Fragile X E syndrome. Fragile X E syndrome is a form of nonsyndromic X-linked cognitive disability. In addition, this gene contains 6-25 GCC repeats that are expanded to >200 repeats in the disease state. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jul 2016]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AF4/FMR2 family, member 2; FMR2; FMR2P; fragile site, folic acid type, rare, fra(X)(q28); fragile X E mental retardation syndrome protein; fragile X mental retardation 2 protein; FRAXE; FRAXE; MRX2; OX19; protein FMR-2
Mus musculus (house mouse) : Aff2 (AF4/FMR2 family, member 2)  MGI  Alliance
Rattus norvegicus (Norway rat) : Aff2 (AF4/FMR2 family, member 2)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Aff2 (AF4/FMR2 family member 2)
Pan paniscus (bonobo/pygmy chimpanzee) : AFF2 (AF4/FMR2 family member 2)
Canis lupus familiaris (dog) : AFF2 (AF4/FMR2 family member 2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Aff2 (AF4/FMR2 family member 2)
Sus scrofa (pig) : AFF2 (AF4/FMR2 family member 2)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38X148,500,619 - 149,000,663 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X147,582,139 - 148,082,193 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X147,389,831 - 147,889,899 (+)NCBINCBI36hg18NCBI36
Build 34X147,287,684 - 147,787,753NCBI
CeleraX147,930,060 - 148,430,864 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX136,538,903 - 137,039,310 (+)NCBIHuRef
CHM1_1X147,493,410 - 147,993,320 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on AFF2
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1343236
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.