Atlas of Genetics and Cytogenetics in Oncology and Haematology

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RFX2 (regulatory factor X2)

Identity

Alias (NCBI)-
HGNC (Hugo) RFX2
HGNC Alias symbFLJ14226
HGNC Alias nametrans-acting regulatory factor 2
 DNA binding protein RFX2
 HLA class II regulatory factor RFX2
HGNC Previous nameregulatory factor X, 2 (influences HLA class II expression)
LocusID (NCBI) 5990
Atlas_Id 56934
Location 19p13.3  [Link to chromosome band 19p13]
Location_base_pair Starts at 5993164 and ends at 6110500 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)
RANBP3 (19p13.3) / RFX2 (19p13.3)RFX2 (19p13.3) / CCDC94 (19p13.3)RFX2 (19p13.3) / EPOR (19p13.2)
RFX2 (19p13.3) / RFX2 (19p13.3)

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  RANBP3/RFX2 (19p13)
RFX2/EPOR (19p13)

External links

Nomenclature
HGNC (Hugo)RFX2   9983
Cards
Entrez_Gene (NCBI)RFX2  5990  regulatory factor X2
Aliases
GeneCards (Weizmann)RFX2
Ensembl hg19 (Hinxton)ENSG00000087903 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000087903 [Gene_View]  ENSG00000087903 [Sequence]  chr19:5993164-6110500 [Contig_View]  RFX2 [Vega]
ICGC DataPortalENSG00000087903
TCGA cBioPortalRFX2
AceView (NCBI)RFX2
Genatlas (Paris)RFX2
WikiGenes5990
SOURCE (Princeton)RFX2
Genetics Home Reference (NIH)RFX2
Genomic and cartography
GoldenPath hg38 (UCSC)RFX2  -     chr19:5993164-6110500 -  19p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RFX2  -     19p13.3   [Description]    (hg19-Feb_2009)
GoldenPathRFX2 - 19p13.3 [CytoView hg19]  RFX2 - 19p13.3 [CytoView hg38]
ImmunoBaseENSG00000087903
genome Data Viewer NCBIRFX2 [Mapview hg19]  
OMIM142765   
Gene and transcription
Genbank (Entrez)AI149945 AI863426 AK024288 AK093977 AK291196
RefSeq transcript (Entrez)NM_000635 NM_134433
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RFX2
Alternative Splicing GalleryENSG00000087903
Gene ExpressionRFX2 [ NCBI-GEO ]   RFX2 [ EBI - ARRAY_EXPRESS ]   RFX2 [ SEEK ]   RFX2 [ MEM ]
Gene Expression Viewer (FireBrowse)RFX2 [ Firebrowse - Broad ]
GenevisibleExpression of RFX2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5990
GTEX Portal (Tissue expression)RFX2
Human Protein AtlasENSG00000087903-RFX2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP48378   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP48378  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP48378
Splice isoforms : SwissVarP48378
PhosPhoSitePlusP48378
Domaine pattern : Prosite (Expaxy)RFX_DBD (PS51526)   
Domains : Interpro (EBI)DNA-bd_RFX    RFX-like    RFX1_trans_act    WH-like_DNA-bd_sf    WH_DNA-bd_sf   
Domain families : Pfam (Sanger)RFX1_trans_act (PF04589)    RFX_DNA_binding (PF02257)   
Domain families : Pfam (NCBI)pfam04589    pfam02257   
Conserved Domain (NCBI)RFX2
DMDM Disease mutations5990
Blocks (Seattle)RFX2
SuperfamilyP48378
Human Protein Atlas [tissue]ENSG00000087903-RFX2 [tissue]
Peptide AtlasP48378
IPIIPI00298182   IPI00107801   IPI01014527   
Protein Interaction databases
DIP (DOE-UCLA)P48378
IntAct (EBI)P48378
FunCoupENSG00000087903
BioGRIDRFX2
STRING (EMBL)RFX2
ZODIACRFX2
Ontologies - Pathways
QuickGOP48378
Ontology : AmiGOnuclear chromatin  RNA polymerase II proximal promoter sequence-specific DNA binding  RNA polymerase II proximal promoter sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  acrosome assembly  DNA binding  DNA-binding transcription factor activity  DNA-binding transcription factor activity  protein binding  nucleus  nucleus  cytoplasm  regulation of transcription by RNA polymerase II  regulation of transcription by RNA polymerase II  spermatid development  positive regulation of transcription by RNA polymerase II  cilium assembly  cellular response to leukemia inhibitory factor  
Ontology : EGO-EBInuclear chromatin  RNA polymerase II proximal promoter sequence-specific DNA binding  RNA polymerase II proximal promoter sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  acrosome assembly  DNA binding  DNA-binding transcription factor activity  DNA-binding transcription factor activity  protein binding  nucleus  nucleus  cytoplasm  regulation of transcription by RNA polymerase II  regulation of transcription by RNA polymerase II  spermatid development  positive regulation of transcription by RNA polymerase II  cilium assembly  cellular response to leukemia inhibitory factor  
NDEx NetworkRFX2
Atlas of Cancer Signalling NetworkRFX2
Wikipedia pathwaysRFX2
Orthology - Evolution
OrthoDB5990
GeneTree (enSembl)ENSG00000087903
Phylogenetic Trees/Animal Genes : TreeFamRFX2
HOGENOMP48378
Homologs : HomoloGeneRFX2
Homology/Alignments : Family Browser (UCSC)RFX2
Gene fusions - Rearrangements
Fusion : QuiverRFX2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRFX2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RFX2
dbVarRFX2
ClinVarRFX2
MonarchRFX2
1000_GenomesRFX2 
Exome Variant ServerRFX2
GNOMAD BrowserENSG00000087903
Varsome BrowserRFX2
Genetic variants : HAPMAP5990
Genomic Variants (DGV)RFX2 [DGVbeta]
DECIPHERRFX2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRFX2 
Mutations
ICGC Data PortalRFX2 
TCGA Data PortalRFX2 
Broad Tumor PortalRFX2
OASIS PortalRFX2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRFX2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DRFX2
Mutations and Diseases : HGMDRFX2
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
BioMutasearch RFX2
DgiDB (Drug Gene Interaction Database)RFX2
DoCM (Curated mutations)RFX2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RFX2 (select a term)
intoGenRFX2
Cancer3DRFX2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM142765   
Orphanet
DisGeNETRFX2
MedgenRFX2
Genetic Testing Registry RFX2
NextProtP48378 [Medical]
TSGene5990
GENETestsRFX2
Target ValidationRFX2
Huge Navigator RFX2 [HugePedia]
snp3D : Map Gene to Disease5990
BioCentury BCIQRFX2
ClinGenRFX2
Clinical trials, drugs, therapy
Protein Interactions : CTD5990
Pharm GKB GenePA34353
Clinical trialRFX2
Miscellaneous
canSAR (ICR)RFX2 (select the gene name)
HarmonizomeRFX2
DataMed IndexRFX2
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRFX2
EVEXRFX2
GoPubMedRFX2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 14 14:30:07 CEST 2020
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