Details for: CBFB

Gene ID: 865

Symbol: CBFB

Ensembl ID: ENSG00000067955

Description: core-binding factor subunit beta

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 265.2283
    Cell Significance Index: -41.2600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 150.7234
    Cell Significance Index: -38.2300
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 90.1037
    Cell Significance Index: -42.5400
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 76.8685
    Cell Significance Index: -39.5400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 33.5860
    Cell Significance Index: -41.4100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 14.0620
    Cell Significance Index: -37.6700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 12.6291
    Cell Significance Index: -27.6400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 10.5523
    Cell Significance Index: -41.6400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.5807
    Cell Significance Index: 88.7000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.5578
    Cell Significance Index: 226.4500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.4846
    Cell Significance Index: 173.0100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.3606
    Cell Significance Index: 270.0200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.6975
    Cell Significance Index: 18.9900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6899
    Cell Significance Index: 75.0400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6661
    Cell Significance Index: 108.3400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5642
    Cell Significance Index: 33.8700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.5512
    Cell Significance Index: 42.3000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.5392
    Cell Significance Index: 15.0700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.4735
    Cell Significance Index: 12.1700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4691
    Cell Significance Index: 46.4000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4427
    Cell Significance Index: 399.7300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.4419
    Cell Significance Index: 52.1100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.4265
    Cell Significance Index: 8.3300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.3851
    Cell Significance Index: 28.7000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.3629
    Cell Significance Index: 23.4200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.3611
    Cell Significance Index: 72.4400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3475
    Cell Significance Index: 124.6600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3068
    Cell Significance Index: 58.3800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3033
    Cell Significance Index: 165.6400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2666
    Cell Significance Index: 7.6800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2474
    Cell Significance Index: 30.4300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2424
    Cell Significance Index: 16.7600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2119
    Cell Significance Index: 38.2100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.1948
    Cell Significance Index: 3.2600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1888
    Cell Significance Index: 83.4800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1654
    Cell Significance Index: 22.7200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1641
    Cell Significance Index: 113.4800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1352
    Cell Significance Index: 17.4700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1340
    Cell Significance Index: 6.9600
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.1140
    Cell Significance Index: 1.6400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1107
    Cell Significance Index: 14.1900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0824
    Cell Significance Index: 52.3200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0763
    Cell Significance Index: 143.7400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0683
    Cell Significance Index: 3.2100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0642
    Cell Significance Index: 2.9100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0609
    Cell Significance Index: 27.6200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0476
    Cell Significance Index: 8.1300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0228
    Cell Significance Index: 0.8000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0226
    Cell Significance Index: 30.7600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0215
    Cell Significance Index: 33.0300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0087
    Cell Significance Index: 16.0600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0052
    Cell Significance Index: 0.1400
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.0016
    Cell Significance Index: 0.0300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0103
    Cell Significance Index: -6.4400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0107
    Cell Significance Index: -7.8900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0384
    Cell Significance Index: -29.0500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0401
    Cell Significance Index: -29.4000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0521
    Cell Significance Index: -1.8100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0547
    Cell Significance Index: -30.8500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0781
    Cell Significance Index: -7.9800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0809
    Cell Significance Index: -4.9700
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.0919
    Cell Significance Index: -1.3200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1015
    Cell Significance Index: -21.3800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1050
    Cell Significance Index: -30.2100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1051
    Cell Significance Index: -4.9000
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.1076
    Cell Significance Index: -0.6500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1598
    Cell Significance Index: -10.0700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1686
    Cell Significance Index: -19.3200
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.2152
    Cell Significance Index: -1.7600
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2342
    Cell Significance Index: -26.7400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2717
    Cell Significance Index: -18.2700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2740
    Cell Significance Index: -19.3800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2949
    Cell Significance Index: -8.6600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3058
    Cell Significance Index: -31.8400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.3137
    Cell Significance Index: -6.6800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.3439
    Cell Significance Index: -9.2200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.3522
    Cell Significance Index: -9.2600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.3684
    Cell Significance Index: -9.2100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.3804
    Cell Significance Index: -4.5400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3906
    Cell Significance Index: -12.5100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.3987
    Cell Significance Index: -5.4400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.4061
    Cell Significance Index: -11.6400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.4075
    Cell Significance Index: -10.4100
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.4244
    Cell Significance Index: -6.2600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.4563
    Cell Significance Index: -7.8200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.4570
    Cell Significance Index: -9.9000
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.4598
    Cell Significance Index: -11.2200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4629
    Cell Significance Index: -28.3800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4641
    Cell Significance Index: -36.7600
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.4975
    Cell Significance Index: -8.3800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.5591
    Cell Significance Index: -28.2500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.6455
    Cell Significance Index: -33.8900
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.7638
    Cell Significance Index: -11.5100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.7759
    Cell Significance Index: -22.1400
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.7785
    Cell Significance Index: -11.4900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.8433
    Cell Significance Index: -27.6100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.8527
    Cell Significance Index: -22.8100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.8837
    Cell Significance Index: -39.0900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.9000
    Cell Significance Index: -26.5100
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.9006
    Cell Significance Index: -33.0600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Transcriptional regulation**: CBFB is a transcriptional regulator that interacts with other proteins to modulate the expression of target genes. 2. **Core-binding factor complex**: CBFB is a subunit of the CBF complex, which is a heterodimeric transcription factor composed of Runx proteins and CBFB. 3. **Hematopoiesis**: CBFB plays a critical role in regulating hematopoiesis, particularly in the differentiation of myeloid cells. 4. **Immune response**: CBFB is involved in the regulation of immune response and the development of regulatory T lymphocytes (Tregs). 5. **Developmental biology**: CBFB is expressed in various developmental stages and is involved in the regulation of cell differentiation and proliferation. **Pathways and Functions** 1. **Gene expression regulation**: CBFB regulates the expression of target genes involved in cell differentiation, proliferation, and survival. 2. **Hematopoiesis**: CBFB is essential for the regulation of hematopoiesis, particularly in the differentiation of myeloid cells. 3. **Immune response**: CBFB is involved in the regulation of immune response and the development of regulatory T lymphocytes (Tregs). 4. **Developmental biology**: CBFB is expressed in various developmental stages and is involved in the regulation of cell differentiation and proliferation. 5. **Transcriptional regulation by RNA polymerase II**: CBFB regulates the expression of genes involved in transcriptional regulation by RNA polymerase II. **Clinical Significance** 1. **Hematological disorders**: Mutations in the CBFB gene have been associated with hematological disorders, such as acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS). 2. **Immune system disorders**: CBFB is involved in the regulation of immune response, and alterations in its expression or function may contribute to immune system disorders, such as autoimmune diseases. 3. **Cancer**: CBFB is overexpressed in various types of cancer, including AML and lymphoma, suggesting its potential as a therapeutic target. 4. **Neurological disorders**: CBFB is expressed in neurons and may play a role in the regulation of neuronal development and function, which is relevant to neurological disorders, such as Alzheimer's disease and Parkinson's disease. In conclusion, the CBFB gene plays a critical role in regulating gene expression during various biological processes, including hematopoiesis, development, and immune response. Its dysregulation has been implicated in various diseases, including hematological disorders, immune system disorders, and cancer. Further research is needed to fully elucidate the mechanisms by which CBFB regulates gene expression and to explore its potential as a therapeutic target.

Genular Protein ID: 1594943014

Symbol: PEBB_HUMAN

Name: Core-binding factor subunit beta

UniProtKB Accession Codes:

Q13951 A8K347 Q13124 Q9HCT2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 EMDB 12 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 17 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 MoonProt 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 18 PDBsum 18 PIR 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 25 RefSeq 2 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8351518

Title: Fusion between transcription factor CBF beta/PEBP2 beta and a myosin heavy chain in acute myeloid leukemia.

PubMed ID: 8351518

DOI: 10.1126/science.8351518

PubMed ID: 7607682

Title: Structure of the leukemia-associated human CBFB gene.

PubMed ID: 7607682

DOI: 10.1016/0888-7543(95)80177-n

PubMed ID: 9064279

Title:

PubMed ID: 9064279

DOI: 10.1006/geno.1996.0603

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22190037

Title: Vif hijacks CBF-beta to degrade APOBEC3G and promote HIV-1 infection.

PubMed ID: 22190037

DOI: 10.1038/nature10693

PubMed ID: 10856244

Title: Structural basis for the heterodimeric interaction between the acute leukaemia-associated transcription factors AML1 and CBFbeta.

PubMed ID: 10856244

DOI: 10.1093/emboj/19.12.3004

PubMed ID: 11276260

Title: The leukemia-associated AML1 (Runx1) -- CBF beta complex functions as a DNA-induced molecular clamp.

PubMed ID: 11276260

DOI: 10.1038/86264

PubMed ID: 10404215

Title: Molecular insights into PEBP2/CBF beta-SMMHC associated acute leukemia revealed from the structure of PEBP2/CBF beta.

PubMed ID: 10404215

DOI: 10.1038/10664

PubMed ID: 24402281

Title: Structural basis for hijacking CBF-beta and CUL5 E3 ligase complex by HIV-1 Vif.

PubMed ID: 24402281

DOI: 10.1038/nature12884

PubMed ID: 31792451

Title: Structural basis of antagonism of human APOBEC3F by HIV-1 Vif.

PubMed ID: 31792451

DOI: 10.1038/s41594-019-0343-6

PubMed ID: 36754086

Title: The structural basis for HIV-1 Vif antagonism of human APOBEC3G.

PubMed ID: 36754086

DOI: 10.1038/s41586-023-05779-1

PubMed ID: 37640699

Title: Structural basis of HIV-1 Vif-mediated E3 ligase targeting of host APOBEC3H.

PubMed ID: 37640699

DOI: 10.1038/s41467-023-40955-x

PubMed ID: 37419875

Title: Structural insights into RNA bridging between HIV-1 Vif and antiviral factor APOBEC3G.

PubMed ID: 37419875

DOI: 10.1038/s41467-023-39796-5

PubMed ID: 36598981

Title: Structural basis for HIV-1 antagonism of host APOBEC3G via Cullin E3 ligase.

PubMed ID: 36598981

DOI: 10.1126/sciadv.ade3168

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 36241386

Title: Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia.

PubMed ID: 36241386

DOI: 10.1136/jmg-2022-108739

Sequence Information:

  • Length: 182
  • Mass: 21508
  • Checksum: 20FB1CC05FBFE4FB
  • Sequence:
    • MPRVVPDQRS KFENEEFFRK LSRECEIKYT GFRDRPHEER QARFQNACRD GRSEIAFVAT 
GTNLSLQFFP ASWQGEQRQT PSREYVDLER EAGKVYLKAP MILNGVCVIW KGWIDLQRLD 
GMGCLEFDEE RAQQEDALAQ QAFEEARRRT REFEDRDRSH REEMEVRVSQ LLAVTGKKTT 
RP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.