| Alias (NCBI) | CBFb |
| PEBP2b ( polyomavirus enhancer binding protein b) |
| HGNC (Hugo) |
CBFB |
| HGNC Alias symb | PEBP2B |
| HGNC Previous name | core-binding factor, beta subunit |
| core-binding factor beta subunit |
| LocusID (NCBI) |
865 |
| Atlas_Id |
45 |
| Location |
16q22.1 [Link to chromosome band 16q22] |
| Location_base_pair |
Starts at 67029149 and ends at 67101055 bp from pter ( according to GRCh38/hg38-Dec_2013) [Mapping CBFB.png] |
| |  |
| |
| | CBFB (16q22) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. |
| |
| |  |
| |
| | CBFB (subunit b of core binding factor) Hybridization with LSI CBFB dual-color break part probe (Abbott Molecular, US), showing CBFB on 16q22.11 (red-green or a fused yellow signal) - Courtesy Adriana Zamecnikova. |
| |
| | 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 core-binding factor subunit beta |
| Aliases | PEBP2B |
| GeneCards (Weizmann) | CBFB |
| Ensembl hg19 (Hinxton) | ENSG00000067955 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000067955 [Gene_View] ENSG00000067955 [Sequence] chr16:67029149-67101055 [Contig_View] CBFB [Vega] |
| ICGC DataPortal | ENSG00000067955 |
| TCGA cBioPortal | CBFB |
| AceView (NCBI) | CBFB |
| Genatlas (Paris) | CBFB |
| SOURCE (Princeton) | CBFB |
| Genetics Home Reference (NIH) | CBFB |
| Genomic and cartography |
|---|
| GoldenPath hg38 (UCSC) | CBFB - chr16:67029149-67101055 + 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 |
| genome Data Viewer NCBI | CBFB [Mapview hg19] |
| 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 |
| Alternative Splicing Gallery | ENSG00000067955 |
| Gene Expression | CBFB [ NCBI-GEO ] CBFB [ EBI - ARRAY_EXPRESS ]
CBFB [ SEEK ] CBFB [ MEM ] |
| Gene Expression Viewer (FireBrowse) | CBFB [ Firebrowse - Broad ] |
| Genevisible | Expression of CBFB 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 |
| Blocks (Seattle) | CBFB |
| PDB (RSDB) | 1CL3 1E50 1H9D 4N9F 6NIL 6P59 |
| PDB Europe | 1CL3 1E50 1H9D 4N9F 6NIL 6P59 |
| PDB (PDBSum) | 1CL3 1E50 1H9D 4N9F 6NIL 6P59 |
| PDB (IMB) | 1CL3 1E50 1H9D 4N9F 6NIL 6P59 |
| Structural Biology KnowledgeBase | 1CL3 1E50 1H9D 4N9F 6NIL 6P59 |
| SCOP (Structural Classification of Proteins) | 1CL3 1E50 1H9D 4N9F 6NIL 6P59 |
| CATH (Classification of proteins structures) | 1CL3 1E50 1H9D 4N9F 6NIL 6P59 |
| 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 |
| 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 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 regulation of transcription by RNA polymerase II 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 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 regulation of transcription by RNA polymerase II 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] |
| Fusion : Mitelman | CBFB/MYH11 [16q22.1/16p13.11] |
| |
| 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 : 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] |
| dbVar | CBFB |
| ClinVar | CBFB |
| Monarch | CBFB |
| 1000_Genomes | CBFB |
| Exome Variant Server | CBFB |
| GNOMAD Browser | ENSG00000067955 |
| Varsome Browser | CBFB |
| 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] |
| Cancer Gene: Census | CBFB |
| 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 |
| OncoKB | CBFB |
| NCG6 (London) | select 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] |
| GENETests | CBFB |
| Target Validation | CBFB |
| Huge Navigator |
CBFB [HugePedia] |
| ClinGen | CBFB (curated) |
| Clinical trials, drugs, therapy |
|---|
| MyCancerGenome | CBFB |
| Protein Interactions : CTD | |
| Pharm GKB Gene | PA26114 |
| Pharos | Q13951 |
| Clinical trial | CBFB |
| Miscellaneous |
|---|
| canSAR (ICR) | CBFB (select the gene name) |
| Harmonizome | CBFB |
| DataMed Index | CBFB |
| Other database | http://cancergenome.broadinstitute.org/index.php?tgene=CBFB |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 144 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| EVEX | CBFB |
