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FXR2 (FMR1 autosomal homolog 2)

Identity

Alias_namesFMR1L2
fragile X mental retardation
Other aliasFXR2P
HGNC (Hugo) FXR2
LocusID (NCBI) 9513
Atlas_Id 40651
Location 17p13.1  [Link to chromosome band 17p13]
Location_base_pair Starts at 7494548 and ends at 7518215 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
FAM104A (17q25.1) / FXR2 (17p13.1)FXR2 (17p13.1) / GAS7 (17p13.1)FXR2 (17p13.1) / TARBP1 (1q42.2)
FXR2 (17p13.1) / TP53 (17p13.1)ITPR3 (6p21.31) / FXR2 (17p13.1)TP53 (17p13.1) / FXR2 (17p13.1)
FXR2 17p13.1 / TARBP1 1q42.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)FXR2   4024
LRG (Locus Reference Genomic)LRG_285
Cards
Entrez_Gene (NCBI)FXR2  9513  FMR1 autosomal homolog 2
AliasesFMR1L2; FXR2P
GeneCards (Weizmann)FXR2
Ensembl hg19 (Hinxton)ENSG00000129245 [Gene_View]  chr17:7494548-7518215 [Contig_View]  FXR2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000129245 [Gene_View]  chr17:7494548-7518215 [Contig_View]  FXR2 [Vega]
ICGC DataPortalENSG00000129245
TCGA cBioPortalFXR2
AceView (NCBI)FXR2
Genatlas (Paris)FXR2
WikiGenes9513
SOURCE (Princeton)FXR2
Genetics Home Reference (NIH)FXR2
Genomic and cartography
GoldenPath hg19 (UCSC)FXR2  -     chr17:7494548-7518215 -  17p13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)FXR2  -     17p13.1   [Description]    (hg38-Dec_2013)
EnsemblFXR2 - 17p13.1 [CytoView hg19]  FXR2 - 17p13.1 [CytoView hg38]
Mapping of homologs : NCBIFXR2 [Mapview hg19]  FXR2 [Mapview hg38]
OMIM605339   
Gene and transcription
Genbank (Entrez)AA593676 AK226082 AK313836 BC020090 BC051907
RefSeq transcript (Entrez)NM_004860
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_028105 NT_010718 NW_004929405
Consensus coding sequences : CCDS (NCBI)FXR2
Cluster EST : UnigeneHs.52788 [ NCBI ]
CGAP (NCI)Hs.52788
Alternative Splicing GalleryENSG00000129245
Gene ExpressionFXR2 [ NCBI-GEO ]   FXR2 [ EBI - ARRAY_EXPRESS ]   FXR2 [ SEEK ]   FXR2 [ MEM ]
Gene Expression Viewer (FireBrowse)FXR2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9513
GTEX Portal (Tissue expression)FXR2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51116   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP51116  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP51116
Splice isoforms : SwissVarP51116
PhosPhoSitePlusP51116
Domaine pattern : Prosite (Expaxy)AGENET_LIKE (PS51641)    KH_TYPE_1 (PS50084)   
Domains : Interpro (EBI)Agenet-like_dom    FXMRP1_C_core    FXR_C1    KH_dom    KH_dom_type_1   
Domain families : Pfam (Sanger)Agenet (PF05641)    FXMRP1_C_core (PF12235)    FXR_C1 (PF16096)    KH_1 (PF00013)   
Domain families : Pfam (NCBI)pfam05641    pfam12235    pfam16096    pfam00013   
Domain families : Smart (EMBL)KH (SM00322)  
Conserved Domain (NCBI)FXR2
DMDM Disease mutations9513
Blocks (Seattle)FXR2
PDB (SRS)3H8Z   
PDB (PDBSum)3H8Z   
PDB (IMB)3H8Z   
PDB (RSDB)3H8Z   
Structural Biology KnowledgeBase3H8Z   
SCOP (Structural Classification of Proteins)3H8Z   
CATH (Classification of proteins structures)3H8Z   
SuperfamilyP51116
Human Protein AtlasENSG00000129245
Peptide AtlasP51116
HPRD05629
IPIIPI00016250   
Protein Interaction databases
DIP (DOE-UCLA)P51116
IntAct (EBI)P51116
FunCoupENSG00000129245
BioGRIDFXR2
STRING (EMBL)FXR2
ZODIACFXR2
Ontologies - Pathways
QuickGOP51116
Ontology : AmiGOpositive regulation of defense response to virus by host  RNA binding  mRNA binding  protein binding  nucleus  cytoplasm  polysome  membrane  negative regulation of translation  cytosolic large ribosomal subunit  identical protein binding  protein homodimerization activity  poly(A) RNA binding  protein heterodimerization activity  extracellular exosome  xenophagy  
Ontology : EGO-EBIpositive regulation of defense response to virus by host  RNA binding  mRNA binding  protein binding  nucleus  cytoplasm  polysome  membrane  negative regulation of translation  cytosolic large ribosomal subunit  identical protein binding  protein homodimerization activity  poly(A) RNA binding  protein heterodimerization activity  extracellular exosome  xenophagy  
Pathways : KEGGRNA transport   
NDEx NetworkFXR2
Atlas of Cancer Signalling NetworkFXR2
Wikipedia pathwaysFXR2
Orthology - Evolution
OrthoDB9513
GeneTree (enSembl)ENSG00000129245
Phylogenetic Trees/Animal Genes : TreeFamFXR2
HOVERGENP51116
HOGENOMP51116
Homologs : HomoloGeneFXR2
Homology/Alignments : Family Browser (UCSC)FXR2
Gene fusions - Rearrangements
Fusion : MitelmanFXR2/TARBP1 [17p13.1/1q42.2]  
Fusion: TCGAFXR2 17p13.1 TARBP1 1q42.2 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFXR2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FXR2
dbVarFXR2
ClinVarFXR2
1000_GenomesFXR2 
Exome Variant ServerFXR2
ExAC (Exome Aggregation Consortium)FXR2 (select the gene name)
Genetic variants : HAPMAP9513
Genomic Variants (DGV)FXR2 [DGVbeta]
DECIPHER (Syndromes)17:7494548-7518215  ENSG00000129245
CONAN: Copy Number AnalysisFXR2 
Mutations
ICGC Data PortalFXR2 
TCGA Data PortalFXR2 
Broad Tumor PortalFXR2
OASIS PortalFXR2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFXR2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFXR2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch FXR2
DgiDB (Drug Gene Interaction Database)FXR2
DoCM (Curated mutations)FXR2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FXR2 (select a term)
intoGenFXR2
Cancer3DFXR2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605339   
Orphanet
MedgenFXR2
Genetic Testing Registry FXR2
NextProtP51116 [Medical]
TSGene9513
GENETestsFXR2
Huge Navigator FXR2 [HugePedia]
snp3D : Map Gene to Disease9513
BioCentury BCIQFXR2
ClinGenFXR2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9513
Chemical/Pharm GKB GenePA28440
Clinical trialFXR2
Miscellaneous
canSAR (ICR)FXR2 (select the gene name)
Probes
Litterature
PubMed55 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFXR2
EVEXFXR2
GoPubMedFXR2
iHOPFXR2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:06:46 CET 2017

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