FXR2

Fragile X mental retardation syndrome-related protein 2 is a protein that in humans is encoded by the FXR2 gene.^[5][6][7]

FXR2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3H8Z
Identifiers
Aliases	FXR2, FMR1L2, FXR2P, FMR1 autosomal homolog 2
External IDs	OMIM: 605339; MGI: 1346074; HomoloGene: 21014; GeneCards: FXR2; OMA:FXR2 - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17p13.1 Start 7,591,230 bp[1] End 7,614,897 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 B3|11 42.86 cM Start 69,523,816 bp[2] End 69,544,123 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in apex of heart gastrocnemius muscle muscle of thigh superior vestibular nucleus left ventricle pons right hemisphere of cerebellum inferior ganglion of vagus nerve right auricle of heart ventral tegmental area Top expressed in neural layer of retina dentate gyrus of hippocampal formation granule cell muscle of thigh superior frontal gyrus primary visual cortex ventricular zone cerebellar cortex epiblast spermatocyte lip More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein heterodimerization activity nucleic acid binding protein binding mRNA binding protein homodimerization activity identical protein binding RNA binding mRNA 3'-UTR binding translation regulator activity Cellular component polysome cytosolic large ribosomal subunit extracellular exosome membrane nucleus cytoplasm cytosol postsynaptic density axon ribonucleoprotein granule cytoplasmic ribonucleoprotein granule soma dendritic spine Biological process negative regulation of translation regulation of translation regulation of mRNA stability positive regulation of translation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9513 23879 Ensembl ENSG00000129245 ENSMUSG00000018765 UniProt P51116 Q9WVR4 Q6P5B5 RefSeq (mRNA) NM_004860 NM_011814 RefSeq (protein) NP_004851 NP_035944 Location (UCSC) Chr 17: 7.59 – 7.61 Mb Chr 11: 69.52 – 69.54 Mb PubMed search [3] [4]
Wikidata
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Function

The protein encoded by this gene is an RNA-binding protein containing two KH domains and one RCG box, similar to FMRP and FXR1. It associates with polyribosomes, predominantly with 60S large ribosomal subunits. This protein may self-associate or interact with FMRP and FXR1. It may play a role in the development of fragile X mental retardation syndrome.^[7]

Interactions

FXR2 has been shown to interact with:

• CYFIP2,^[8]
• FMR1,^[5][9][10]
• FXR1,^[5][9] and
• LCMT1.^[11]