HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
FXR2
FMR1 autosomal homolog 2
Chromosome 17 · 17p13.1
NCBI Gene: 9513Ensembl: ENSG00000129245.13HGNC: HGNC:4024UniProt: P51116
203PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
identical protein bindingprotein homodimerization activitymembraneprotein heterodimerization activityneurodegenerative diseasetesticular diseasecancerbreast cancer
✦AI Summary

FXR2 is an mRNA-binding protein and member of the Fragile X protein family that regulates translation and mRNA stability through binding to AU-rich elements (AREs) in 3'-UTRs 1. The protein functions as a regulator of adult hippocampal neurogenesis by modulating translation and stability of target mRNAs, including NOG mRNA in the dentate gyrus, thereby controlling neuronal development [UniProt annotation supported by GO terms]. FXR2 undergoes liquid-liquid phase separation upon binding ARE-containing mRNAs, enabling formation of membraneless compartments that regulate mRNA storage, translation, and stability. The protein is coexpressed with FMR1 and FXR1 in differentiated neurons throughout the brain 2, and exhibits tissue-specific expression patterns during development 3. FXR2 interacts with other Fragile X family members and associates with ribosomal machinery 2. Recent evidence links FXR2 dysfunction to amyotrophic lateral sclerosis pathogenesis, with loss of FXR2 expression implicated in disease progression 1. Additionally, FXR2 participates in trained immunity against tuberculosis by stabilizing CLOCK mRNA in collaboration with the lncRNA TRCR1, enhancing innate immune memory 4. FXR2 expression is transcriptionally regulated by NF-Y, AP2, Nrf1, and Sp1 5.

Sources cited
1
FXR2 is a multifunctional RNA-binding protein involved in RNA metabolism and translation regulation; loss of FXR2 expression is linked to ALS pathogenesis
PMID: 36991279
2
FXR2 protein is coexpressed with FMR1 and FXR1 in cytoplasm of differentiated neurons; associates with 60S ribosomal subunit
PMID: 9259278
3
FXR2 mRNA is widely distributed in nervous and non-nervous tissues during prenatal development; FXR1 and FXR2 may partially compensate for FMRP function
PMID: 10446811
4
FXR2 collaborates with lncRNA TRCR1 to stabilize CLOCK mRNA and promote trained immunity against tuberculosis
PMID: 41475336
5
FXR2 promoter is regulated by transcription factors NF-Y, AP2, Nrf1, and Sp1; Fxr2 disruption in mice produces learning and memory deficits
PMID: 16886907
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
testicular diseaseOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.07Suggestive
memory impairmentOpen Targets
0.07Suggestive
Abnormality of the skeletal systemOpen Targets
0.06Suggestive
systemic lupus erythematosusOpen Targets
0.05Suggestive
spinocerebellar ataxia type 14Open Targets
0.04Suggestive
epilepsy, progressive myoclonic, 12Open Targets
0.04Suggestive
attention deficit hyperactivity disorderOpen Targets
0.04Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.04Suggestive
Potocki-Lupski syndromeOpen Targets
0.04Suggestive
type 2 diabetes mellitusOpen Targets
0.03Suggestive
epilepsyOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
X-linked dominant intellectual disability - epilepsy syndromeOpen Targets
0.03Suggestive
hypertensionOpen Targets
0.03Suggestive
response to xenobiotic stimulusOpen Targets
0.03Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DDX6Protein interaction100%DICER1Protein interaction100%AGO1Protein interaction100%EIF4EProtein interaction99%HNRNPKProtein interaction96%PUF60Protein interaction96%
Tissue Expression6 tissues
Heart
100%
Brain
71%
Lung
39%
Liver
39%
Ovary
34%
Bone Marrow
15%
Gene Interaction Network
Click a node to explore
FXR2DDX6DICER1AGO1EIF4EHNRNPKPUF60
PROTEIN STRUCTURE
Preparing viewer…
PDB3H8Z · 1.92 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.32Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.18 [0.10–0.32]
RankingsWhere FXR2 stands among ~20K protein-coding genes
  • #2,068of 20,598
    Most Researched203 · top quartile
  • #1,301of 17,882
    Most Constrained (LOEUF)0.32 · top 10%
Genes detectedFXR2
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
DMS-MaPseq for genome-wide or targeted RNA structure probing in vivo.
PMID: 27819661
Nat Methods · 2017
1.00
2
The Fragile X Protein Family in Amyotrophic Lateral Sclerosis.
PMID: 36991279
Mol Neurobiol · 2023
0.90
3
Functional amyloid protein FXR1 is recruited into neuronal stress granules.
PMID: 40411539
Prion · 2025
0.80
4
FXR1 regulates transcription and is required for growth of human cancer cells with
PMID: 28767039
Elife · 2017
0.80
5
Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis.
PMID: 9259278
Hum Mol Genet · 1997
0.70