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    FXR2 FMR1 autosomal homolog 2 [ Homo sapiens (human) ]

    Gene ID: 9513, updated on 28-Oct-2024

    Summary

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    Official Symbol
    FXR2provided by HGNC
    Official Full Name
    FMR1 autosomal homolog 2provided by HGNC
    Primary source
    HGNC:HGNC:4024
    See related
    Ensembl:ENSG00000129245 MIM:605339; AllianceGenome:HGNC:4024
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FXR2P; FMR1L2
    Summary
    The protein encoded by this gene is a RNA binding protein containing two KH domains and one RCG box, which is similar to FMRP and FXR1. It associates with polyribosomes, predominantly with 60S large ribosomal subunits. This encoded protein may self-associate or interact with FMRP and FXR1. It may have a role in the development of fragile X cognitive disability syndrome. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in heart (RPKM 19.4), testis (RPKM 17.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FXR2 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7591230..7614897, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7495481..7519118, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7494548..7518215, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7485994-7486867 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7486868-7487742 Neighboring gene MPDU1 antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7487743-7488615 Neighboring gene CD68 molecule Neighboring gene mannose-P-dolichol utilization defect 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7492556-7493130 Neighboring gene SRY-box transcription factor 15 Neighboring gene uncharacterized LOC124904134 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8132 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8133 Neighboring gene MPRA-validated peak2713 silencer Neighboring gene sex hormone binding globulin Neighboring gene tRNA-undetermined (NNN) 6-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11638 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11639 Neighboring gene spermidine/spermine N1-acetyltransferase family member 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The rat androgen-binding protein (ABP/SHBG) gene contains triplet repeats similar to unstable triplets: evidence that the ABP/SHBG and the fragile X-related 2 genes overlap. Joseph DR. Steroids, 1998 Jan. PMID 9437788
    2. Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations. Tamanini F, et al. Hum Mol Genet, 1999 May. PMID 10196376
    3. Structural studies of the tandem Tudor domains of fragile X mental retardation related proteins FXR1 and FXR2. Adams-Cioaba MA, et al. PLoS One, 2010 Nov 2. PMID 21072162, Free PMC Article
    4. LLPS of FXR proteins drives replication organelle clustering for β-coronaviral proliferation. Li M, et al. J Cell Biol, 2024 Jun 3. PMID 38587486, Free PMC Article
    5. Fragile X-related protein family: a double-edged sword in neurodevelopmental disorders and cancer. Majumder M, et al. Crit Rev Biochem Mol Biol, 2020 Oct. PMID 32878499, Free PMC Article

    See all (176) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LLPS of FXR proteins drives replication organelle clustering for beta-coronaviral proliferation.
      Title: LLPS of FXR proteins drives replication organelle clustering for β-coronaviral proliferation.
    2. Spatial control of nucleoporin condensation by fragile X-related proteins.
      Title: Spatial control of nucleoporin condensation by fragile X-related proteins.
    3. Fragile X-related protein family: a double-edged sword in neurodevelopmental disorders and cancer.
      Title: Fragile X-related protein family: a double-edged sword in neurodevelopmental disorders and cancer.
    4. Inhibition of the remaining family member FXR1 selectively blocks cell proliferation in human cancer cells containing homozygous deletion of both TP53 and FXR2 in a collateral lethality manner.
      Title: FXR1 regulates transcription and is required for growth of human cancer cells with TP53/FXR2 homozygous deletion.
    5. An accumulation of 8 SNPs in the fragile gene family (FMR1, FXR1 and FXR2)were found associated with autistic traits in a sample of male patients.
      Title: Accumulated common variants in the broader fragile X gene family modulate autistic phenotypes.
    6. Data show that the nuclear localization signals of the FXR1 and FXR2 comprise tandem Tudor domain architectures.
      Title: Structural studies of the tandem Tudor domains of fragile X mental retardation related proteins FXR1 and FXR2.
    7. These results indicate that FMR1 gene function is evolutionarily conserved in neural mechanisms and cannot be compensated by either FXR1 or FXR2, but that all three proteins can substitute for each other in non-neuronal requirements.
      Title: Fragile X mental retardation protein has a unique, evolutionarily conserved neuronal function not shared with FXR1P or FXR2P.
    8. FXR1P and FXR2P KH2 domains bind G-quadruplex and kissing complex RNA with the same affinity as the FMRP KH2 domain.
      Title: Discrimination of common and unique RNA-binding activities among Fragile X mental retardation protein paralogs.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
    EBI GWAS Catalog
    Genome-wide scan identifies variant in TNFSF13 associated with serum IgM in a healthy Chinese male population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Fragile X mental retardation, autosomal homolog 2 (FXR2) is identified to interact with HIV-1 Tat mutant Nullbasic in HeLa cells by LC MS/MS PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables mRNA 3'-UTR binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables translation regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in animal organ development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in dentate gyrus development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mRNA destabilization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mRNA transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of long-term neuronal synaptic plasticity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of mRNA stability IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of translation at presynapse, modulating synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasmic stress granule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasmic stress granule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane HDA PubMed 
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    RNA-binding protein FXR2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_028105.1 RefSeqGene

      Range
      5001..28668
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_285

    mRNA and Protein(s)

    1. NM_004860.4 → NP_004851.2  RNA-binding protein FXR2

      See identical proteins and their annotated locations for NP_004851.2

      Status: REVIEWED

      Source sequence(s)
      AA593676, BC020090, DA114906
      Consensus CDS
      CCDS45604.1
      UniProtKB/Swiss-Prot
      B2R9M2, D3DTQ1, P51116, Q86V09, Q8WUM2
      UniProtKB/TrEMBL
      A0A994J7P9
      Related
      ENSP00000250113.7, ENST00000250113.12
      Conserved Domains (5) summary
      smart00322
      Location:230 → 290
      KH; K homology RNA-binding domain
      pfam00013
      Location:295 → 362
      KH_1; KH domain
      pfam05641
      Location:72 → 127
      Agenet; Agenet domain
      pfam12235
      Location:364 → 473
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      pfam16096
      Location:510 → 577
      FXR_C1; Fragile X-related 1 protein C-terminal region 2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      7591230..7614897 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437106.1 → XP_047293062.1  RNA-binding protein FXR2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      7495481..7519118 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317873.1 → XP_054173848.1  RNA-binding protein FXR2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P51116.2 GenPept UniProtKB/Swiss-Prot:P51116

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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