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

Gene ID: 9513, updated on 10-Apr-2024

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; 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
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Genomic context

See FXR2 in Genome Data Viewer
Location:
17p13.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7591230..7614897, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7495481..7519118, complement)
105.20220307 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

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

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 PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 

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_004860.4NP_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: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: GCF_000001405.40-RS_2023_10

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_047437106.1XP_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_054317873.1XP_054173848.1  RNA-binding protein FXR2 isoform X1