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AFF2 (AF4/FMR2 family member 2)

Identity

Alias_namesFMR2
fragile X mental retardation 2
AF4/FMR2 family, member 2
Alias_symbol (synonym)FRAXE
Other aliasFMR2P
MRX2
OX19
HGNC (Hugo) AFF2
LocusID (NCBI) 2334
Atlas_Id 60180
Location Xq28  [Link to chromosome band Xq28]
Location_base_pair Starts at 148500619 and ends at 149000663 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
AFF2 (Xq28) / AFF2 (Xq28)

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)AFF2   3776
Cards
Entrez_Gene (NCBI)AFF2  2334  AF4/FMR2 family member 2
AliasesFMR2; FMR2P; FRAXE; MRX2; 
OX19
GeneCards (Weizmann)AFF2
Ensembl hg19 (Hinxton)ENSG00000155966 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000155966 [Gene_View]  chrX:148500619-149000663 [Contig_View]  AFF2 [Vega]
ICGC DataPortalENSG00000155966
TCGA cBioPortalAFF2
AceView (NCBI)AFF2
Genatlas (Paris)AFF2
WikiGenes2334
SOURCE (Princeton)AFF2
Genetics Home Reference (NIH)AFF2
Genomic and cartography
GoldenPath hg38 (UCSC)AFF2  -     chrX:148500619-149000663 +  Xq28   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AFF2  -     Xq28   [Description]    (hg19-Feb_2009)
EnsemblAFF2 - Xq28 [CytoView hg19]  AFF2 - Xq28 [CytoView hg38]
Mapping of homologs : NCBIAFF2 [Mapview hg19]  AFF2 [Mapview hg38]
OMIM300806   309548   
Gene and transcription
Genbank (Entrez)AB102644 AJ001550 AK301927 AK311467 BC132683
RefSeq transcript (Entrez)NM_001169122 NM_001169123 NM_001169124 NM_001169125 NM_001170628 NM_002025
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AFF2
Cluster EST : UnigeneHs.496911 [ NCBI ]
CGAP (NCI)Hs.496911
Alternative Splicing GalleryENSG00000155966
Gene ExpressionAFF2 [ NCBI-GEO ]   AFF2 [ EBI - ARRAY_EXPRESS ]   AFF2 [ SEEK ]   AFF2 [ MEM ]
Gene Expression Viewer (FireBrowse)AFF2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2334
GTEX Portal (Tissue expression)AFF2
Human Protein AtlasENSG00000155966-AFF2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51816   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP51816  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP51816
Splice isoforms : SwissVarP51816
PhosPhoSitePlusP51816
Domains : Interpro (EBI)TF_AF4/FMR2   
Domain families : Pfam (Sanger)AF-4 (PF05110)   
Domain families : Pfam (NCBI)pfam05110   
Conserved Domain (NCBI)AFF2
DMDM Disease mutations2334
Blocks (Seattle)AFF2
SuperfamilyP51816
Human Protein Atlas [tissue]ENSG00000155966-AFF2 [tissue]
Peptide AtlasP51816
HPRD02397
IPIIPI00020903   IPI00221389   IPI00221390   IPI00929187   IPI00954787   IPI00954794   IPI00178914   
Protein Interaction databases
DIP (DOE-UCLA)P51816
IntAct (EBI)P51816
FunCoupENSG00000155966
BioGRIDAFF2
STRING (EMBL)AFF2
ZODIACAFF2
Ontologies - Pathways
QuickGOP51816
Ontology : AmiGOG-quadruplex RNA binding  mRNA processing  brain development  learning or memory  RNA splicing  regulation of gene expression  negative regulation of gene expression  nuclear speck  nuclear speck organization  regulation of RNA splicing  
Ontology : EGO-EBIG-quadruplex RNA binding  mRNA processing  brain development  learning or memory  RNA splicing  regulation of gene expression  negative regulation of gene expression  nuclear speck  nuclear speck organization  regulation of RNA splicing  
NDEx NetworkAFF2
Atlas of Cancer Signalling NetworkAFF2
Wikipedia pathwaysAFF2
Orthology - Evolution
OrthoDB2334
GeneTree (enSembl)ENSG00000155966
Phylogenetic Trees/Animal Genes : TreeFamAFF2
HOVERGENP51816
HOGENOMP51816
Homologs : HomoloGeneAFF2
Homology/Alignments : Family Browser (UCSC)AFF2
Gene fusions - Rearrangements
Tumor Fusion PortalAFF2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAFF2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AFF2
dbVarAFF2
ClinVarAFF2
1000_GenomesAFF2 
Exome Variant ServerAFF2
ExAC (Exome Aggregation Consortium)ENSG00000155966
GNOMAD BrowserENSG00000155966
Genetic variants : HAPMAP2334
Genomic Variants (DGV)AFF2 [DGVbeta]
DECIPHERAFF2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAFF2 
Mutations
ICGC Data PortalAFF2 
TCGA Data PortalAFF2 
Broad Tumor PortalAFF2
OASIS PortalAFF2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAFF2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAFF2
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)X-chromosome gene database
BioMutasearch AFF2
DgiDB (Drug Gene Interaction Database)AFF2
DoCM (Curated mutations)AFF2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AFF2 (select a term)
intoGenAFF2
Cancer3DAFF2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300806    309548   
Orphanet14684   
DisGeNETAFF2
MedgenAFF2
Genetic Testing Registry AFF2
NextProtP51816 [Medical]
TSGene2334
GENETestsAFF2
Target ValidationAFF2
Huge Navigator AFF2 [HugePedia]
snp3D : Map Gene to Disease2334
BioCentury BCIQAFF2
ClinGenAFF2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2334
Chemical/Pharm GKB GenePA28192
Clinical trialAFF2
Miscellaneous
canSAR (ICR)AFF2 (select the gene name)
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAFF2
EVEXAFF2
GoPubMedAFF2
iHOPAFF2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:59:11 CET 2017

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