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

Gene ID: 9513, updated on 9-Sep-2018

Summary

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 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

Genomic context

See FXR2 in Genome Data Viewer
Location:
17p13.1
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

Genomic regions, transcripts, and products

Expression

  • 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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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 BioSystems

  • 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) ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
mRNA 3'-UTR binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein homodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
translation regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
negative regulation of translation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of translation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of mRNA stability IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic ribonucleoprotein granule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosolic large ribosomal subunit TAS
Traceable Author Statement
more info
PubMed 
dendritic spine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane HDA PubMed 
neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
polysome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic density IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ribonucleoprotein granule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    ENSP00000250113.7, OTTHUMP00000258900, ENST00000250113.11, OTTHUMT00000441084
    Conserved Domains (5) summary
    smart00322
    Location:230290
    KH; K homology RNA-binding domain
    pfam00013
    Location:295362
    KH_1; KH domain
    pfam05641
    Location:72127
    Agenet; Agenet domain
    pfam12235
    Location:364473
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

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

RNA

  1. XR_243572.2 RNA Sequence

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