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Gene: AFF2 (AF4/FMR2 family member 2) Homo sapiens
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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
Orthologs:
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on AFF2
Alliance Gene
NCBI 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



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