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. [provid... See more...

Aliases for FXR2 Gene

Aliases for FXR2 Gene

  • FMR1 Autosomal Homolog 2 2 3 5
  • Fragile X Mental Retardation Syndrome-Related Protein 2 3 4
  • Fragile X Mental Retardation, Autosomal Homolog 2 2 3
  • FMR1L2 3 4
  • Fragile X-Mental Retardation 1-Like 2 3
  • FXR2P 3

External Ids for FXR2 Gene

Previous HGNC Symbols for FXR2 Gene

  • FMR1L2

Previous GeneCards Identifiers for FXR2 Gene

  • GC17M007908
  • GC17M008234
  • GC17M007437
  • GC17M007695
  • GC17M007435
  • GC17M007494
  • GC17M007388

Summaries for FXR2 Gene

Entrez Gene Summary for FXR2 Gene

  • 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]

GeneCards Summary for FXR2 Gene

FXR2 (FMR1 Autosomal Homolog 2) is a Protein Coding gene. Diseases associated with FXR2 include Fragile X Syndrome and X-Linked Monogenic Disease. Among its related pathways are Neuroscience and Translational Control. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and identical protein binding. An important paralog of this gene is FXR1.

UniProtKB/Swiss-Prot Summary for FXR2 Gene

Gene Wiki entry for FXR2 Gene

Additional gene information for FXR2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FXR2 Gene

Genomics for FXR2 Gene

GeneHancer (GH) Regulatory Elements for FXR2 Gene

Promoters and enhancers for FXR2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J007613 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.6 592 3.4 EP300 CTCF ZSCAN5C NRF1 MYC POLR2G SP1 PHF8 TEAD4 ZFX FXR2 SHBG TP53 CNTROB TNFSF12 SNORD10 SNORA48 MIR324 PFAS CTC1
GH17J007676 Enhancer 0.7 Ensembl ENCODE 11.3 -62.6 -62604 2.2 USF1 ZNF335 HLF SP1 POU5F1 NANOG SCRT2 EFNB3 ATP1B2 DNAH2 FXR2 FJ601684-170 piR-32214-277 lnc-SAT2-3 TP53
GH17J007586 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 0.3 +25.7 25660 5.6 CTCF MYC USF1 TEAD4 FOS ZIC2 POLR2A ZNF423 GABPA RAD21 SOX15 SAT2 TNFSF12 CHRNB1 ATP1B2 LOC100996842 lnc-SOX15-2 MPDU1 FXR2
GH17J007612 Promoter 0.8 Ensembl 0.7 +2.8 2796 0.2 ZNF316 FOSL1 ZBTB48 RCOR1 MAFG DPF2 NR2F6 SMARCE1 KDM1A TEAD4 RF01210-159 SHBG FXR2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FXR2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FXR2

Top Transcription factor binding sites by QIAGEN in the FXR2 gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for FXR2 Gene

Genomic Locations for FXR2 Gene
chr17:7,591,230-7,614,897
(GRCh38/hg38)
Size:
23,668 bases
Orientation:
Minus strand
chr17:7,494,548-7,518,215
(GRCh37/hg19)
Size:
23,668 bases
Orientation:
Minus strand

Genomic View for FXR2 Gene

Genes around FXR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FXR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FXR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FXR2 Gene

Proteins for FXR2 Gene

  • Protein details for FXR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51116-FXR2_HUMAN
    Recommended name:
    Fragile X mental retardation syndrome-related protein 2
    Protein Accession:
    P51116
    Secondary Accessions:
    • B2R9M2
    • D3DTQ1
    • Q86V09
    • Q8WUM2

    Protein attributes for FXR2 Gene

    Size:
    673 amino acids
    Molecular mass:
    74223 Da
    Quaternary structure:
    • Interacts with FMR1 (PubMed:7489725, PubMed:8668200, PubMed:11157796). Interacts with FXR1 (PubMed:7489725). Interacts with TDRD3 (PubMed:18664458). Interacts with HABP4 (PubMed:21771594). Interacts with CYFIP2 but not with CYFIP1 (By similarity).
    • (Microbial infection) Interacts with Sindbis virus non-structural protein 3 (via C-terminus); this interaction inhibits the formation of host stress granules on viral mRNAs and the nsp3-FXR2 complexes bind viral RNAs and probably orchestrate the assembly of viral replication complexes.

    Three dimensional structures from OCA and Proteopedia for FXR2 Gene

neXtProt entry for FXR2 Gene

Post-translational modifications for FXR2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FXR2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FXR2 Gene

Domains & Families for FXR2 Gene

Gene Families for FXR2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FXR2 Gene

Blocks:
  • KH domain
  • KH, type 1
  • Agenet
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FXR2 Gene

GenScript: Design optimal peptide antigens:
  • Fragile X mental retardation syndrome-related protein 2 (FXR2_HUMAN)
  • Fragile X mental retardation, autosomal homolog 2 (Q86V09_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P51116

UniProtKB/Swiss-Prot:

FXR2_HUMAN :
  • The tandem Agenet-like domains preferentially recognize trimethylated histone peptides.
  • Belongs to the FMR1 family.
Domain:
  • The tandem Agenet-like domains preferentially recognize trimethylated histone peptides.
Family:
  • Belongs to the FMR1 family.
genes like me logo Genes that share domains with FXR2: view

Function for FXR2 Gene

Molecular function for FXR2 Gene

UniProtKB/Swiss-Prot Function:
RNA-binding protein.
GENATLAS Biochemistry:
cytoplasmic RNA binding protein (74kDa),homologous to FXR1 and FMR1 (see symbols),homodimerizing and heterodimerizing with them,expressed in fetal and adult brain and testis,shuttling between cytoplasm and nucleolus

Phenotypes From GWAS Catalog for FXR2 Gene

Gene Ontology (GO) - Molecular Function for FXR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding TAS,HDA 22658674
GO:0003729 mRNA binding IBA,IEA 21873635
GO:0003730 mRNA 3'-UTR binding IBA 21873635
GO:0005515 protein binding IPI 7489725
genes like me logo Genes that share ontologies with FXR2: view
genes like me logo Genes that share phenotypes with FXR2: view

Animal Models for FXR2 Gene

MGI Knock Outs for FXR2:
  • Fxr2 Fxr2<tm2b(EUCOMM)Wtsi>
  • Fxr2 Fxr2<tm1Cgr>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FXR2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FXR2 Gene

Localization for FXR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FXR2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FXR2 gene
Compartment Confidence
cytosol 5
nucleus 4
cytoskeleton 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FXR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IDA 7489725
GO:0005829 cytosol IDA --
GO:0005844 polysome IBA 21873635
GO:0014069 postsynaptic density IBA 21873635
genes like me logo Genes that share ontologies with FXR2: view

Pathways & Interactions for FXR2 Gene

PathCards logo

SuperPathways for FXR2 Gene

genes like me logo Genes that share pathways with FXR2: view

Pathways by source for FXR2 Gene

1 KEGG pathway for FXR2 Gene
2 Cell Signaling Technology pathways for FXR2 Gene

Gene Ontology (GO) - Biological Process for FXR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IBA 21873635
GO:0001934 positive regulation of protein phosphorylation IBA 21873635
GO:0006417 regulation of translation IEA --
GO:0017148 negative regulation of translation IBA 21873635
GO:0043488 regulation of mRNA stability IBA 21873635
genes like me logo Genes that share ontologies with FXR2: view

No data available for SIGNOR curated interactions for FXR2 Gene

Drugs & Compounds for FXR2 Gene

(1) Drugs for FXR2 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Methylphenidate Approved, Investigational Pharma 418
genes like me logo Genes that share compounds with FXR2: view

Transcripts for FXR2 Gene

mRNA/cDNA for FXR2 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FXR2

Alternative Splicing Database (ASD) splice patterns (SP) for FXR2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19a · 19b
SP1: -
SP2: -
SP3: -
SP4:
SP5: -
SP6:
SP7:

Relevant External Links for FXR2 Gene

GeneLoc Exon Structure for
FXR2

Expression for FXR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FXR2 Gene

mRNA differential expression in normal tissues according to GTEx for FXR2 Gene

This gene is overexpressed in Muscle - Skeletal (x4.1).

Protein differential expression in normal tissues from HIPED for FXR2 Gene

This gene is overexpressed in Testis (19.4), Peripheral blood mononuclear cells (10.8), and Urine (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FXR2 Gene



Protein tissue co-expression partners for FXR2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FXR2

SOURCE GeneReport for Unigene cluster for FXR2 Gene:

Hs.52788

Evidence on tissue expression from TISSUES for FXR2 Gene

  • Nervous system(4.6)
  • Kidney(4.3)
  • Skin(4.3)
  • Liver(4.2)
  • Muscle(2.3)
  • Adrenal gland(2)
  • Bone marrow(2)
  • Gall bladder(2)
  • Intestine(2)
  • Lung(2)
  • Stomach(2)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with FXR2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FXR2 Gene

Orthologs for FXR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for FXR2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FXR2 31 30
  • 99.9 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FXR2 31 30
  • 93.46 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FXR2 31 30
  • 91.47 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FXR2 31
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fxr2 30
  • 90.99 (n)
mouse
(Mus musculus)
Mammalia Fxr2 17 31 30
  • 90.77 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FXR2 31
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FXR2 31
  • 78 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii fxr2 31 30
  • 66.67 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Fmr1 31 32
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 50 (a)
OneToMany
Species where no ortholog for FXR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FXR2 Gene

ENSEMBL:
Gene Tree for FXR2 (if available)
TreeFam:
Gene Tree for FXR2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FXR2: view image

Paralogs for FXR2 Gene

Paralogs for FXR2 Gene

(2) SIMAP similar genes for FXR2 Gene using alignment to 3 proteins:

  • FXR2_HUMAN
  • I3L1Z2_HUMAN
  • L0R4Y0_HUMAN
genes like me logo Genes that share paralogs with FXR2: view

Variants for FXR2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FXR2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
744260 Likely Benign: not provided 7,602,996(-) G/A SYNONYMOUS_VARIANT
773589 Benign: not provided 7,593,093(-) G/A SYNONYMOUS_VARIANT
779453 Likely Benign: not provided 7,593,064(-) C/T MISSENSE_VARIANT
786838 Likely Benign: not provided 7,591,901(-) T/C MISSENSE_VARIANT
798902 Likely Benign: not provided 7,594,752(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for FXR2 Gene

Structural Variations from Database of Genomic Variants (DGV) for FXR2 Gene

Variant ID Type Subtype PubMed ID
esv2422288 CNV deletion 17116639
nsv1123093 CNV deletion 24896259
nsv1134593 CNV deletion 24896259
nsv457659 CNV loss 19166990
nsv574322 CNV loss 21841781

Variation tolerance for FXR2 Gene

Residual Variation Intolerance Score: 43.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.25; 25.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FXR2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FXR2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FXR2 Gene

Disorders for FXR2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for FXR2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fragile x syndrome
  • fxs
x-linked monogenic disease
x-linked hereditary ataxia
autism
  • autistic disorder
- elite association - COSMIC cancer census association via MalaCards
Search FXR2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FXR2

genes like me logo Genes that share disorders with FXR2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FXR2 Gene

Publications for FXR2 Gene

  1. The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2. (PMID: 7489725) Zhang Y … Dreyfuss G (The EMBO journal 1995) 2 3 4 23 54
  2. Evidence that fragile X mental retardation protein is a negative regulator of translation. (PMID: 11157796) Laggerbauer B … Fischer U (Human molecular genetics 2001) 3 4 23 54
  3. Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis. (PMID: 9259278) Tamanini F … Hoogeveen AT (Human molecular genetics 1997) 2 3 23 54
  4. Specific sequences in the fragile X syndrome protein FMR1 and the FXR proteins mediate their binding to 60S ribosomal subunits and the interactions among them. (PMID: 8668200) Siomi MC … Dreyfuss G (Molecular and cellular biology 1996) 3 4 23 54
  5. Structural studies of the tandem Tudor domains of fragile X mental retardation related proteins FXR1 and FXR2. (PMID: 21072162) Adams-Cioaba MA … Min J (PloS one 2010) 3 4 54

Products for FXR2 Gene

Sources for FXR2 Gene