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FLASH GENE
Symbol FXR2 contributors: npt/mct - updated : 27-09-2017
HGNC name fragile X mental retardation, autosomal homolog 2
HGNC id 4024
Location 17p13.1      Physical location : 7.494.547 - 7.518.215
Synonym name fragile X mental retardation syndrome related protein 2
Synonym symbol(s) FXR2P, FMR1L2
DNA
TYPE functioning gene
STRUCTURE 23.52 kb     17 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map pter - D17S675 ,PFN1 - D17S513 - D17S678 ,D17S906 - D17S796 - SLC2A4 - D17S520 - TP53 - cen
Authors Wilgenbus (96)
Physical map
KCTD11 17p13.2 potassium channel tetramerisation domain containing 11 LOC339168 17p13.2 hypothetical protein LOC339168 TNK1 17p13.1 tyrosine kinase, non-receptor, 1 PLSCR3 17p13.2 phospholipid scramblase 3 MGC40107 17p13.2 hypothetical protein MGC40107 NLGN2 17p13 neuroligin 2 LOC374768 17p13.2 hypothetical protein LOC374768 LOC201243 17p13.2 hypothetical protein LOC201243 LOC388329 17 similar to ENSANGP00000015193 FLJ36878 17p13.2 hypothetical protein FLJ36878 LOC388330 17 LOC388330 FGF11 17p13.1 fibroblast growth factor 11 CHRNB1 17p13.1 cholinergic receptor, nicotinic, beta polypeptide 1 (muscle) ZBTB4 17p13.2 zinc finger and BTB domain containing 4 POLR2A 17p13.1 polymerase (RNA) II (DNA directed) polypeptide A, 220kDa TNFSF12 17p13.1 tumor necrosis factor (ligand) superfamily, member 12 TNFSF13 17p13.1 tumor necrosis factor (ligand) superfamily, member 13 SENP3 17p13 tumor necrosis factor (ligand) superfamily, member 13 EIF4A1 17p13.1 eukaryotic translation initiation factor 4A, isoform 1 CD68 17p13.1 CD68 antigen MPDU1 17p13.1-p12 mannose-P-dolichol utilization defect 1 SOX15 17p12.3 SRY (sex determining region Y)-box 15 FXR2 17p13.1 fragile X mental retardation, autosomal homolog 2 SAT2 17p13.2 spermidine/spermine N1-acetyltransferase 2 SHBG 17p13.1 sex hormone-binding globulin
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
17 - 3016 - 673 - 1997 9259278
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine  highly
 salivary gland   highly
Nervousbrain    
Reproductivefemale systemuteruscervix highly
 male systemtestis   
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal, pregnancy
Text brain, testis
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two K homology (KH) domain, and KH2 domains bind kissing complex RNA ligands with the same affinity as the FMR1 KH2 domain although other KH domains do not (Darnell 2009)
  • one RGG motif
  • a nuclear localization signal (NLS)
  • a nuclear export signal (NES)
  • putative RNA-binding domains
  • a C terminal stretch of basic aminoacids ressembling to nucleolar targeting signal
  • mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Fxr2h
    intraspecies paralog to FXR1, FMR1 (see symbols) (Coffee 2010)
    Homologene
    FAMILY
  • FMR1 family
  • CATEGORY RNA associated , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    text shuttling between cytoplasm and nucleolus
    basic FUNCTION
  • RNA transport and regulation
  • may have a role in the development of fragile X mental retardation syndrome
  • required for the presence of behavioral circadian rhythms and this role may be relevant to the behavioral alterations observed in fragile X patients
  • differential regulation of zone of the lateral ventricles (SVZ) and the dentate gyrus (DG) of the hippocampus stem cells by FXR2 may be a key component of the mechanism that governs the different neurogenic processes in these two adult germinal zones
  • FXR2 is important for neuronal dendritic development
  • important roles for FXR2 and GRIA1 in neuronal development, and functional convergence between fragile X proteins in this neuronal development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text nucleocytoplasmic transport
    PATHWAY
    metabolism
    signaling
    a component
  • homodimerizing and heterodimerizing with FXR1 and FMR1
  • INTERACTION
    DNA
    RNA binding
    small molecule
    protein
  • a nuclear localization signals of FXR1 and also FXR2 with tandem Tudor domain architectures, closely resembling that of UHRF1, which is proposed to bind methylated histone H3K9
  • RNA-binding protein FXR2 specifically regulates dentate gyrus (DG) of the hippocampus neurogenesis by reducing the stability of NOG mRNA
  • FMR1 and FXR2 additively promote the maturation of new neurons by regulating a common target, the AMPA receptor GRIA1, but via distinct mechanisms
  • coordinated regulation of DLG4 mRNA by FMR1 and FXR2 that ultimately affects its fine-tuning during synaptic activity.
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS