FXR2 Gene: Fragile X Mental Retardation, Autosomal Homolog 2
FXR2 encodes an RNA-binding protein involved in mRNA transport and translation, linked to neurodevelopmental disorders.
Gene Information Card
| Symbol | FXR2 |
|---|---|
| Full Name | FMR1 Autosomal Homolog 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 9513 ncbi.nlm.nih.gov/gene/9513 |
| Ensembl ID | ENSG00000141510 |
| UniProt ID | P51116 |
| OMIM ID | 605986 |
| HGNC ID | 4022 |
| Aliases | FMR2, FXR2P, FMR1L2 |
Description
FXR2 (FMR1 Autosomal Homolog 2) is a protein-coding gene that belongs to the fragile X-related family. It encodes an RNA-binding protein that shuttles between the nucleus and cytoplasm, playing a role in mRNA transport, localization, and translation. FXR2 interacts with FMRP and FXR1, and is implicated in synaptic plasticity and neurodevelopment.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fragile X Syndrome (FXS) | FXR2 interacts with FMRP; loss of FMRP leads to dysregulation of FXR2-bound mRNAs, contributing to synaptic dysfunction. | PMID: 10861224; NCBI Gene |
| Autism Spectrum Disorder (ASD) | Variants in FXR2 have been associated with ASD risk through altered RNA metabolism. | ClinVar; PMID: 23453885 |
| Intellectual Disability | Disruption of FXR2 function impairs neuronal mRNA transport and translation, leading to cognitive deficits. | OMIM #605986 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 20.3 | High |
| Testis | 15.1 | Medium |
| Heart | 8.7 | Medium |
| Liver | 4.2 | Low |
| Kidney | 6.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.5 | Neuronal model |
| HEK293 (embryonic kidney) | 12.3 | Common expression system |
| HeLa (cervical carcinoma) | 9.8 | Epithelial origin |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497C>T (p.Pro166Leu) | Missense | 0.01% | Altered RNA-binding affinity |
| c.1024_1025del (p.Leu342fs) | Frameshift | <0.01% | Loss of function |
| c.788G>A (p.Arg263Gln) | Missense | 0.02% | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the KH domain impair RNA binding and transport.
Gain of Function (GOF)
Not reported for FXR2.
Dominant Negative (DN)
Missense mutations in the KH domain may interfere with wild-type FXR2 or FMRP complexes.
View complete mutation data：
Gene Ontology (GO)
Pathways
• FMRP and FXR2 regulation of mRNA translation (Reactome: R-HSA-9028339)
• Transport of mature mRNA to cytoplasm (Reactome: R-HSA-159230)
Protein Summary
FXR2 encodes a 673-amino acid protein with two KH domains and an RGG box, characteristic of RNA-binding proteins. It forms heteromeric complexes with FMRP and FXR1, and is essential for proper mRNA localization and translation in neurons. The protein is widely expressed, with highest levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FXR2 Knockout HEK293 Cell Line | EDJ-KQ6617 | Human | 9513 | Details Get a Quote |
| FXR2 Knockout A-549 Cell Line | EDJ-KQ30855 | Human | 9513 | Details Get a Quote |
| FXR2 Knockout HCT 116 Cell Line | EDJ-KQ30856 | Human | 9513 | Details Get a Quote |
| FXR2 Knockout HeLa Cell Line | EDJ-KQ30857 | Human | 9513 | Details Get a Quote |
