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

    Gene ID: 9513, updated on 12-Mar-2017
    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; Vega:OTTHUMG00000178237
    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 mental retardation syndrome. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    17p13.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (7591230..7614897, complement)
    105 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 uncharacterized LOC100996842 Neighboring gene CD68 molecule Neighboring gene mannose-P-dolichol utilization defect 1 Neighboring gene SRY-box 15 Neighboring gene sex hormone binding globulin Neighboring gene spermidine/spermine N1-acetyltransferase family member 2 Neighboring gene ATPase Na+/K+ transporting subunit beta 2

    • Project title: 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

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

    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

    • RNA transport, organism-specific biosystem (from KEGG)
      RNA transport, organism-specific biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
    • RNA transport, conserved biosystem (from KEGG)
      RNA transport, conserved biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    negative regulation of translation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosolic large ribosomal subunit TAS
    Traceable Author Statement
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    polysome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    fragile X mental retardation syndrome-related protein 2
    Names
    fragile X mental retardation, autosomal homolog 2
    fragile X-mental retardation 1-like 2

    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_004860.3NP_004851.2  fragile X mental retardation syndrome-related protein 2

      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
      P51116
      Related
      ENSP00000250113, OTTHUMP00000258900, ENST00000250113, OTTHUMT00000441084
      Conserved Domains (5) summary
      smart00322
      Location:230290
      KH; K homology RNA-binding domain
      cd00105
      Location:296362
      KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
      pfam05641
      Location:72129
      Agenet; Agenet domain
      pfam12235
      Location:364465
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      pfam16096
      Location:510577
      FXR_C1; Fragile X-related 1 protein C-terminal region 2

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

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

    RNA

    1. XR_243572.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      7503476..7527124 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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