Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

CBFA2T2 (CBFA2/RUNX1 translocation partner 2)

Identity

Alias_namescore-binding factor
Alias_symbol (synonym)MTGR1
ZMYND3
Other aliasEHT
p85
HGNC (Hugo) CBFA2T2
LocusID (NCBI) 9139
Atlas_Id 934
Location 20q11.22  [Link to chromosome band 20q11]
Location_base_pair Starts at 33562365 and ends at 33650031 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)
ACAD11 (3q22.1) / CBFA2T2 (20q11.21)ADAMTS20 (12q12) / CBFA2T2 (20q11.21)CBFA2T2 (20q11.21) / CBFA2T2 (20q11.21)
CBFA2T2 (20q11.21) / DOK5 (20q13.2)CBFA2T2 (20q11.21) / HM13 (20q11.21)CBFA2T2 (20q11.21) / RTN4 (2p16.1)
CHMP4B (20q11.22) / CBFA2T2 (20q11.21)DNAJC3 (13q32.1) / CBFA2T2 (20q11.21)MARK3 (14q32.32) / CBFA2T2 (20q11.21)
RUNX1 (21q22.12) / CBFA2T2 (20q11.21)ZBTB2 (6q25.1) / CBFA2T2 (20q11.21)ZNF341 (20q11.22) / CBFA2T2 (20q11.21)
CBFA2T2 20q11.21 / DOK5 20q13.2CBFA2T2 20q11.21 / HM13 20q11.21CHMP4B 20q11.22 / CBFA2T2 20q11.21
ZNF341 20q11.22 / CBFA2T2 20q11.21

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  ins(21;20)(q22;q11q11) RUNX1/CBFA2T2


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 5 ]
  t(12;20)(q12;q11) ADAMTS20/CBFA2T2
CBFA2T2/HM13 (20q11)
CHMP4B/CBFA2T2 (20q11)
ZNF341/CBFA2T2 (20q11)
t(20;20)(q11;q13) CBFA2T2/DOK5


External links

Nomenclature
HGNC (Hugo)CBFA2T2   1536
Cards
Entrez_Gene (NCBI)CBFA2T2  9139  CBFA2/RUNX1 translocation partner 2
AliasesEHT; MTGR1; ZMYND3; p85
GeneCards (Weizmann)CBFA2T2
Ensembl hg19 (Hinxton)ENSG00000078699 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000078699 [Gene_View]  ENSG00000078699 [Sequence]  chr20:33562365-33650031 [Contig_View]  CBFA2T2 [Vega]
ICGC DataPortalENSG00000078699
TCGA cBioPortalCBFA2T2
AceView (NCBI)CBFA2T2
Genatlas (Paris)CBFA2T2
WikiGenes9139
SOURCE (Princeton)CBFA2T2
Genetics Home Reference (NIH)CBFA2T2
Genomic and cartography
GoldenPath hg38 (UCSC)CBFA2T2  -     chr20:33562365-33650031 +  20q11.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CBFA2T2  -     20q11.22   [Description]    (hg19-Feb_2009)
EnsemblCBFA2T2 - 20q11.22 [CytoView hg19]  CBFA2T2 - 20q11.22 [CytoView hg38]
Mapping of homologs : NCBICBFA2T2 [Mapview hg19]  CBFA2T2 [Mapview hg38]
OMIM603672   
Gene and transcription
Genbank (Entrez)AB209306 AF013970 AF039200 AF052210 AF052211
RefSeq transcript (Entrez)NM_001032999 NM_001039709 NM_005093 NM_175864
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CBFA2T2
Cluster EST : UnigeneHs.153934 [ NCBI ]
CGAP (NCI)Hs.153934
Alternative Splicing GalleryENSG00000078699
Gene ExpressionCBFA2T2 [ NCBI-GEO ]   CBFA2T2 [ EBI - ARRAY_EXPRESS ]   CBFA2T2 [ SEEK ]   CBFA2T2 [ MEM ]
Gene Expression Viewer (FireBrowse)CBFA2T2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9139
GTEX Portal (Tissue expression)CBFA2T2
Human Protein AtlasENSG00000078699-CBFA2T2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43439   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43439  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43439
Splice isoforms : SwissVarO43439
PhosPhoSitePlusO43439
Domaine pattern : Prosite (Expaxy)TAFH (PS51119)    ZF_MYND_1 (PS01360)    ZF_MYND_2 (PS50865)   
Domains : Interpro (EBI)CBFA2T1/2/3    MTGR1    NHR2    TAFH/NHR1_dom_sf    TAFH_NHR1    Znf_MYND   
Domain families : Pfam (Sanger)NHR2 (PF08788)    TAFH (PF07531)    zf-MYND (PF01753)   
Domain families : Pfam (NCBI)pfam08788    pfam07531    pfam01753   
Domain families : Smart (EMBL)TAFH (SM00549)  
Conserved Domain (NCBI)CBFA2T2
DMDM Disease mutations9139
Blocks (Seattle)CBFA2T2
SuperfamilyO43439
Human Protein Atlas [tissue]ENSG00000078699-CBFA2T2 [tissue]
Peptide AtlasO43439
HPRD04721
IPIIPI00179452   IPI00180725   IPI00339253   IPI00332991   IPI01014558   IPI01018277   IPI00941084   IPI00552577   IPI00791832   
Protein Interaction databases
DIP (DOE-UCLA)O43439
IntAct (EBI)O43439
FunCoupENSG00000078699
BioGRIDCBFA2T2
STRING (EMBL)CBFA2T2
ZODIACCBFA2T2
Ontologies - Pathways
QuickGOO43439
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  DNA-binding transcription factor activity  transcription corepressor activity  transcription corepressor activity  transcription corepressor activity  protein binding  nucleus  nucleus  positive regulation of neuron projection development  negative regulation of neuron projection development  negative regulation of Notch signaling pathway  negative regulation of transcription, DNA-templated  negative regulation of transcription, DNA-templated  metal ion binding  intestinal epithelial cell differentiation  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  DNA-binding transcription factor activity  transcription corepressor activity  transcription corepressor activity  transcription corepressor activity  protein binding  nucleus  nucleus  positive regulation of neuron projection development  negative regulation of neuron projection development  negative regulation of Notch signaling pathway  negative regulation of transcription, DNA-templated  negative regulation of transcription, DNA-templated  metal ion binding  intestinal epithelial cell differentiation  
NDEx NetworkCBFA2T2
Atlas of Cancer Signalling NetworkCBFA2T2
Wikipedia pathwaysCBFA2T2
Orthology - Evolution
OrthoDB9139
GeneTree (enSembl)ENSG00000078699
Phylogenetic Trees/Animal Genes : TreeFamCBFA2T2
HOVERGENO43439
HOGENOMO43439
Homologs : HomoloGeneCBFA2T2
Homology/Alignments : Family Browser (UCSC)CBFA2T2
Gene fusions - Rearrangements
Fusion : MitelmanADAMTS20/CBFA2T2 [12q12/20q11.21]  [t(12;20)(q12;q11)]  
Fusion : MitelmanCBFA2T2/DOK5 [20q11.21/20q13.2]  [t(20;20)(q11;q13)]  
Fusion : MitelmanCBFA2T2/HM13 [20q11.21/20q11.21]  [t(20;20)(q11;q11)]  
Fusion : MitelmanCHMP4B/CBFA2T2 [20q11.22/20q11.21]  [t(20;20)(q11;q11)]  
Fusion : MitelmanRUNX1/CBFA2T2 [21q22.12/20q11.21]  [ins(21;20)(q22;q11q11)]  
Fusion : MitelmanZNF341/CBFA2T2 [20q11.22/20q11.21]  [t(20;20)(q11;q11)]  
Fusion PortalCBFA2T2 20q11.21 DOK5 20q13.2 LUAD
Fusion PortalCBFA2T2 20q11.21 HM13 20q11.21 HNSC
Fusion PortalCHMP4B 20q11.22 CBFA2T2 20q11.21 BRCA
Fusion PortalZNF341 20q11.22 CBFA2T2 20q11.21 LUAD
Fusion : QuiverCBFA2T2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCBFA2T2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CBFA2T2
dbVarCBFA2T2
ClinVarCBFA2T2
1000_GenomesCBFA2T2 
Exome Variant ServerCBFA2T2
ExAC (Exome Aggregation Consortium)ENSG00000078699
GNOMAD BrowserENSG00000078699
Varsome BrowserCBFA2T2
Genetic variants : HAPMAP9139
Genomic Variants (DGV)CBFA2T2 [DGVbeta]
DECIPHERCBFA2T2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCBFA2T2 
Mutations
ICGC Data PortalCBFA2T2 
TCGA Data PortalCBFA2T2 
Broad Tumor PortalCBFA2T2
OASIS PortalCBFA2T2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCBFA2T2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCBFA2T2
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 CBFA2T2
DgiDB (Drug Gene Interaction Database)CBFA2T2
DoCM (Curated mutations)CBFA2T2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CBFA2T2 (select a term)
intoGenCBFA2T2
Cancer3DCBFA2T2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603672   
Orphanet
DisGeNETCBFA2T2
MedgenCBFA2T2
Genetic Testing Registry CBFA2T2
NextProtO43439 [Medical]
TSGene9139
GENETestsCBFA2T2
Target ValidationCBFA2T2
Huge Navigator CBFA2T2 [HugePedia]
snp3D : Map Gene to Disease9139
BioCentury BCIQCBFA2T2
ClinGenCBFA2T2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9139
Chemical/Pharm GKB GenePA26112
Clinical trialCBFA2T2
Miscellaneous
canSAR (ICR)CBFA2T2 (select the gene name)
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCBFA2T2
EVEXCBFA2T2
GoPubMedCBFA2T2
iHOPCBFA2T2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 10:55:55 CET 2018

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.