| | ABL1 (9q34.12) / CBFB (16q22.1) | C16orf70 (16q22.1) / CBFB (16q22.1) | CBFB (16q22.1) / ATP13A3 (3q29) |
| |
CBFB (16q22.1) / CBFB (16q22.1) | CBFB (16q22.1) / CES4A (16q22.1) | CBFB (16q22.1) / FUK (16q22.1) |
| |
CBFB (16q22.1) / HNRNPA2B1 (7p15.2) | CBFB (16q22.1) / MRPL42 (12q22) | CBFB (16q22.1) / MUTYH (1p34.1) |
| |
CBFB (16q22.1) / MYH11 (16p13.11) | CBFB (16q22.1) / NAE1 (16q22.1) | CBFB (16q22.1) / NDE1 (16p13.11) |
| |
MYH11 (16p13.11) / CBFB (16q22.1) |
| Failure of embryonic hematopoiesis and lethal hemorrhages in mouse embryos heterozygous for a knocked-in leukemia gene CBFB-MYH11. |
| Castilla LH, Wijmenga C, Wang Q, Stacy T, Speck NA, Eckhaus M, Marín-Padilla M, Collins FS, Wynshaw-Boris A, Liu PP |
| Cell. 1996 ; 87 (4) : 687-696. |
| PMID 8929537 |
| |
| Identification of yeast artificial chromosomes containing the inversion 16 p-arm breakpoint associated with acute myelomonocytic leukemia. |
| Liu P, Claxton DF, Marlton P, Hajra A, Siciliano J, Freedman M, Chandrasekharappa SC, Yanagisawa K, Stallings RL, Collins FS |
| Blood. 1993 ; 82 (3) : 716-721. |
| PMID 8338941 |
| |
| Molecular cloning and characterization of PEBP2 beta, the heterodimeric partner of a novel Drosophila runt-related DNA binding protein PEBP2 alpha. |
| Ogawa E, Inuzuka M, Maruyama M, Satake M, Naito-Fujimoto M, Ito Y, Shigesada K |
| Virology. 1993 ; 194 (1) : 314-331. |
| PMID 8386878 |
| |
| PEBP2/PEA2 represents a family of transcription factors homologous to the products of the Drosophila runt gene and the human AML1 gene. |
| Ogawa E, Maruyama M, Kagoshima H, Inuzuka M, Lu J, Satake M, Shigesada K, Ito Y |
| Proceedings of the National Academy of Sciences of the United States of America. 1993 ; 90 (14) : 6859-6863. |
| PMID 8341710 |
| |
| The CBFbeta subunit is essential for CBFalpha2 (AML1) function in vivo. |
| Wang Q, Stacy T, Miller JD, Lewis AF, Gu TL, Huang X, Bushweller JH, Bories JC, Alt FW, Ryan G, Liu PP, Wynshaw-Boris A, Binder M, Marín-Padilla M, Sharpe AH, Speck NA |
| Cell. 1996 ; 87 (4) : 697-708. |
| PMID 8929538 |
| |
| Cloning and characterization of subunits of the T-cell receptor and murine leukemia virus enhancer core-binding factor. |
| Wang S, Wang Q, Crute BE, Melnikova IN, Keller SR, Speck NA |
| Molecular and cellular biology. 1993 ; 13 (6) : 3324-3339. |
| PMID 8497254 |
| |
| Acute myelogenous leukemia: a disorder of gene splicing? |
| van der Reijden BA, van Ommen GJ, Hagemeijer A, Breuning MH |
| Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1996 ; 10 (2) : 204-206. |
| PMID 8637227 |
| |
| Nomenclature |
|---|
| HGNC (Hugo) | CBFB 1539 |
| Cards |
|---|
| Atlas | CBFbID45 |
| Entrez_Gene (NCBI) | CBFB 865 core-binding factor subunit beta |
| Aliases | PEBP2B |
| GeneCards (Weizmann) | CBFB |
| Ensembl hg19 (Hinxton) | ENSG00000067955 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000067955 [Gene_View] ENSG00000067955 [Sequence] chr16:67029147-67101055 [Contig_View] CBFB [Vega] |
| ICGC DataPortal | ENSG00000067955 |
| TCGA cBioPortal | CBFB |
| AceView (NCBI) | CBFB |
| Genatlas (Paris) | CBFB |
| WikiGenes | 865 |
| SOURCE (Princeton) | CBFB |
| Genetics Home Reference (NIH) | CBFB |
| Genomic and cartography |
|---|
| GoldenPath hg38 (UCSC) | CBFB - chr16:67029147-67101055 + 16q22.1 [Description] (hg38-Dec_2013) |
| GoldenPath hg19 (UCSC) | CBFB - 16q22.1 [Description] (hg19-Feb_2009) |
| GoldenPath | CBFB - 16q22.1 [CytoView hg19] CBFB - 16q22.1 [CytoView hg38] |
| ImmunoBase | ENSG00000067955 |
| Mapping of homologs : NCBI | CBFB [Mapview hg19] CBFB [Mapview hg38] |
| OMIM | 121360 601626 |
| Gene and transcription |
|---|
| Genbank (Entrez) | AA020956 AF294326 AK290462 AK291834 AK311084 |
| RefSeq transcript (Entrez) | NM_001368707 NM_001368708 NM_001368709 NM_001368710 NM_001755 NM_022845 |
| RefSeq genomic (Entrez) | |
| Consensus coding sequences : CCDS (NCBI) | CBFB |
| Cluster EST : Unigene | Hs.460988 [ NCBI ] |
| CGAP (NCI) | Hs.460988 |
| Alternative Splicing Gallery | ENSG00000067955 |
| Gene Expression | CBFB [ NCBI-GEO ] CBFB [ EBI - ARRAY_EXPRESS ]
CBFB [ SEEK ] CBFB [ MEM ] |
| Gene Expression Viewer (FireBrowse) | CBFB [ Firebrowse - Broad ] |
| SOURCE (Princeton) | Expression in : [Datasets] [Normal Tissue Atlas] [carcinoma Classsification] [NCI60] |
| Genevestigator | Expression in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 865 |
| GTEX Portal (Tissue expression) | CBFB |
| Human Protein Atlas | ENSG00000067955-CBFB [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | Q13951 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | Q13951 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | Q13951 |
| Splice isoforms : SwissVar | Q13951 |
| PhosPhoSitePlus | Q13951 |
| Domains : Interpro (EBI) | CBF_beta CBF_bsu_sf |
| Domain families : Pfam (Sanger) | CBF_beta (PF02312) |
| Domain families : Pfam (NCBI) | pfam02312 |
| Conserved Domain (NCBI) | CBFB |
| DMDM Disease mutations | 865 |
| Blocks (Seattle) | CBFB |
| PDB (RSDB) | 1CL3 1E50 1H9D 4N9F |
| PDB Europe | 1CL3 1E50 1H9D 4N9F |
| PDB (PDBSum) | 1CL3 1E50 1H9D 4N9F |
| PDB (IMB) | 1CL3 1E50 1H9D 4N9F |
| Structural Biology KnowledgeBase | 1CL3 1E50 1H9D 4N9F |
| SCOP (Structural Classification of Proteins) | 1CL3 1E50 1H9D 4N9F |
| CATH (Classification of proteins structures) | 1CL3 1E50 1H9D 4N9F |
| Superfamily | Q13951 |
| Human Protein Atlas [tissue] | ENSG00000067955-CBFB [tissue] |
| Peptide Atlas | Q13951 |
| HPRD | 00418 |
| IPI | IPI00016746 IPI00024871 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | Q13951 |
| IntAct (EBI) | Q13951 |
| FunCoup | ENSG00000067955 |
| BioGRID | CBFB |
| STRING (EMBL) | CBFB |
| ZODIAC | CBFB |
| Ontologies - Pathways |
|---|
| QuickGO | Q13951 |
| Ontology : AmiGO | negative regulation of transcription by RNA polymerase II protein polyubiquitination DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific osteoblast differentiation regulation of cytokine-mediated signaling pathway DNA binding DNA-binding transcription factor activity transcription coregulator activity transcription coactivator activity protein binding nucleus nucleoplasm transcription by RNA polymerase II transcription initiation from RNA polymerase II promoter membrane core-binding factor complex core-binding factor complex lymphocyte differentiation myeloid cell differentiation regulation of Wnt signaling pathway regulation of intracellular estrogen receptor signaling pathway negative regulation of CD4-positive, alpha-beta T cell differentiation positive regulation of CD8-positive, alpha-beta T cell differentiation sequence-specific DNA binding sequence-specific DNA binding regulation of regulatory T cell differentiation regulation of keratinocyte differentiation regulation of myeloid cell differentiation regulation of megakaryocyte differentiation positive regulation of transcription by RNA polymerase II cell maturation regulation of B cell receptor signaling pathway definitive hemopoiesis regulation of hematopoietic stem cell differentiation regulation of bicellular tight junction assembly |
| Ontology : EGO-EBI | negative regulation of transcription by RNA polymerase II protein polyubiquitination DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific osteoblast differentiation regulation of cytokine-mediated signaling pathway DNA binding DNA-binding transcription factor activity transcription coregulator activity transcription coactivator activity protein binding nucleus nucleoplasm transcription by RNA polymerase II transcription initiation from RNA polymerase II promoter membrane core-binding factor complex core-binding factor complex lymphocyte differentiation myeloid cell differentiation regulation of Wnt signaling pathway regulation of intracellular estrogen receptor signaling pathway negative regulation of CD4-positive, alpha-beta T cell differentiation positive regulation of CD8-positive, alpha-beta T cell differentiation sequence-specific DNA binding sequence-specific DNA binding regulation of regulatory T cell differentiation regulation of keratinocyte differentiation regulation of myeloid cell differentiation regulation of megakaryocyte differentiation positive regulation of transcription by RNA polymerase II cell maturation regulation of B cell receptor signaling pathway definitive hemopoiesis regulation of hematopoietic stem cell differentiation regulation of bicellular tight junction assembly |
| REACTOME | Q13951 [protein] |
| REACTOME Pathways | R-HSA-9018519 [pathway] |
| NDEx Network | CBFB |
| Atlas of Cancer Signalling Network | CBFB |
| Wikipedia pathways | CBFB |
| Orthology - Evolution |
|---|
| OrthoDB | 865 |
| GeneTree (enSembl) | ENSG00000067955 |
| Phylogenetic Trees/Animal Genes : TreeFam | CBFB |
| HOGENOM | Q13951 |
| Homologs : HomoloGene | CBFB |
| Homology/Alignments : Family Browser (UCSC) | CBFB |
| Gene fusions - Rearrangements |
|---|
| Fusion : Mitelman | CBFB/ATP13A3 [16q22.1/3q29] |
| Fusion : Mitelman | CBFB/CES4A [16q22.1/16q22.1] [t(16;16)(q22;q22)] |
| Fusion : Mitelman | CBFB/MYH11 [16q22.1/16p13.11] [ins(16)(q22p13p13)] [ins(16;16)(q22;p13p13)] |
| [inv(16)(p13q22)] [t(16;16)(p13;q22)] |
| Fusion Portal | CBFB 16q22.1 ATP13A3 3q29 HNSC |
| Fusion Portal | CBFB 16q22.1 CES4A 16q22.1 HNSC |
| Fusion : TICdb | CBFB [16q22.1] - MYH11 [16p13.11] |
| Fusion : FusionGDB | 42829 4418 5665 5666 5667 5668 5669 5670 5671 5672 5673 5674 5675 5676 5677 |
| 5678 |
| Fusion : Fusion_Hub | ABL1--CBFB ARID1B--CBFB BRD9--CBFB C16ORF70--CBFB CBFB--AKAP7 CBFB--ATP13A3 CBFB--C16ORF70 CBFB--CA7 CBFB--CBFB CBFB--CES4A CBFB--CIRH1A CBFB--COG4 CBFB--FAM120AOS CBFB--FUK CBFB--HNRNPA2B1 |
| CBFB--IRAK1 CBFB--KIAA0866 CBFB--KIAA1432 CBFB--MKL2 CBFB--MRPL42 CBFB--MYH11 CBFB--NAE1 CBFB--NDE1 CBFB--NUTF2 CBFB--RERG CBFB--SFXN1 CBFB--UACA CBFB--ZNF639 DNM1--CBFB DPF3--CBFB |
| FILIP1--CBFB FUS--CBFB MARK3--CBFB MGRN1--CBFB MYH--CBFB MYH1--CBFB MYH11--CBFB RBM6--CBFB RGS10--CBFB SMMHC--CBFB TP53BP1--CBFB USP10--CBFB YEATS4--CBFB |
| Fusion : Quiver | CBFB |
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | CBFB [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | CBFB |
| dbVar | CBFB |
| ClinVar | CBFB |
| 1000_Genomes | CBFB |
| Exome Variant Server | CBFB |
| ExAC (Exome Aggregation Consortium) | ENSG00000067955 |
| GNOMAD Browser | ENSG00000067955 |
| Varsome Browser | CBFB |
| Genetic variants : HAPMAP | 865 |
| Genomic Variants (DGV) | CBFB [DGVbeta] |
| DECIPHER | CBFB [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | CBFB |
| Mutations |
|---|
| ICGC Data Portal | CBFB |
| TCGA Data Portal | CBFB |
| Broad Tumor Portal | CBFB |
| OASIS Portal | CBFB [ Somatic mutations - Copy number] |
| Somatic Mutations in Cancer : COSMIC | CBFB [overview] [genome browser] [tissue] [distribution] |
| Somatic Mutations in Cancer : COSMIC3D | CBFB |
| Mutations and Diseases : HGMD | CBFB |
| intOGen Portal | CBFB |
| 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 |
| BioMuta | search CBFB |
| DgiDB (Drug Gene Interaction Database) | CBFB |
| DoCM (Curated mutations) | CBFB (select the gene name) |
| CIViC (Clinical Interpretations of Variants in Cancer) | CBFB (select a term) |
| intoGen | CBFB |
| NCG5 (London) | CBFB |
| Cancer3D | CBFB(select the gene name) |
| Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 121360 601626 |
| Orphanet | 13846 |
| DisGeNET | CBFB |
| Medgen | CBFB |
| Genetic Testing Registry | CBFB
|
| NextProt | Q13951 [Medical] |
| TSGene | 865 |
| GENETests | CBFB |
| Target Validation | CBFB |
| Huge Navigator |
CBFB [HugePedia] |
| snp3D : Map Gene to Disease | 865 |
| BioCentury BCIQ | CBFB |
| ClinGen | CBFB (curated) |
| Clinical trials, drugs, therapy |
|---|
| Chemical/Protein Interactions : CTD | 865 |
| Chemical/Pharm GKB Gene | PA26114 |
| Clinical trial | CBFB |
| Miscellaneous |
|---|
| canSAR (ICR) | CBFB (select the gene name) |
| DataMed Index | CBFB |
| Other database | http://cancergenome.broadinstitute.org/index.php?tgene=CBFB |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 134 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | CBFB |
| EVEX | CBFB |
| GoPubMed | CBFB |
| iHOP | CBFB |
