Gene CBFB - ENSG00000067955 | NCBI Gene ID: 865

Details for: CBFB

Gene ID: 865

Symbol: CBFB

Ensembl ID: ENSG00000067955

Description: core-binding factor subunit beta

Associated with

Developmental biology
(R-HSA-1266738)
Esr-mediated signaling
(R-HSA-8939211)
Estrogen-dependent gene expression
(R-HSA-9018519)
Gene expression (transcription)
(R-HSA-74160)
Generic transcription pathway
(R-HSA-212436)
Regulation of runx1 expression and activity
(R-HSA-8934593)
Regulation of runx2 expression and activity
(R-HSA-8939902)
Regulation of runx3 expression and activity
(R-HSA-8941858)
Rna polymerase ii transcription
(R-HSA-73857)
Runx1 and foxp3 control the development of regulatory t lymphocytes (tregs)
(R-HSA-8877330)
Runx1 interacts with co-factors whose precise effect on runx1 targets is not known
(R-HSA-8939243)
Runx1 regulates estrogen receptor mediated transcription
(R-HSA-8931987)
Runx1 regulates expression of components of tight junctions
(R-HSA-8935964)
Runx1 regulates genes involved in megakaryocyte differentiation and platelet function
(R-HSA-8936459)
Runx1 regulates transcription of genes involved in bcr signaling
(R-HSA-8939245)
Runx1 regulates transcription of genes involved in differentiation of hscs
(R-HSA-8939236)
Runx1 regulates transcription of genes involved in differentiation of keratinocytes
(R-HSA-8939242)
Runx1 regulates transcription of genes involved in differentiation of myeloid cells
(R-HSA-8939246)
Runx1 regulates transcription of genes involved in interleukin signaling
(R-HSA-8939247)
Runx1 regulates transcription of genes involved in wnt signaling
(R-HSA-8939256)
Runx2 regulates bone development
(R-HSA-8941326)
Runx2 regulates chondrocyte maturation
(R-HSA-8941284)
Runx2 regulates genes involved in cell migration
(R-HSA-8941332)
Runx2 regulates genes involved in differentiation of myeloid cells
(R-HSA-8941333)
Runx2 regulates osteoblast differentiation
(R-HSA-8940973)
Runx3 regulates immune response and cell migration
(R-HSA-8949275)
Runx3 regulates p14-arf
(R-HSA-8951936)
Runx3 regulates runx1-mediated transcription
(R-HSA-8951911)
Signaling by nuclear receptors
(R-HSA-9006931)
Signal transduction
(R-HSA-162582)
Transcriptional regulation by runx1
(R-HSA-8878171)
Transcriptional regulation by runx2
(R-HSA-8878166)
Transcriptional regulation by runx3
(R-HSA-8878159)
Transcriptional regulation of granulopoiesis
(R-HSA-9616222)
Cell maturation
(GO:0048469)
Core-binding factor complex
(GO:0016513)
Definitive hemopoiesis
(GO:0060216)
Lymphocyte differentiation
(GO:0030098)
Membrane
(GO:0016020)
Myeloid cell differentiation
(GO:0030099)
Negative regulation of cd4-positive, alpha-beta t cell differentiation
(GO:0043371)
Negative regulation of transcription by rna polymerase ii
(GO:0000122)
Nucleoplasm
(GO:0005654)
Osteoblast differentiation
(GO:0001649)
Positive regulation of cd8-positive, alpha-beta t cell differentiation
(GO:0043378)
Positive regulation of transcription by rna polymerase ii
(GO:0045944)
Protein binding
(GO:0005515)
Protein polyubiquitination
(GO:0000209)
Regulation of transcription by rna polymerase ii
(GO:0006357)
Sequence-specific dna binding
(GO:0043565)
Transcription by rna polymerase ii
(GO:0006366)
Transcription coactivator activity
(GO:0003713)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: cardiac neuron (CL0010022)
Fold Change: 2.19
Marker Score: 2732
Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: 1.73
Marker Score: 36882
Cell Name: vascular leptomeningeal cell (CL4023051)
Fold Change: 1.61
Marker Score: 1851
Cell Name: kidney interstitial fibroblast (CL1000692)
Fold Change: 1.53
Marker Score: 2938
Cell Name: corneal epithelial cell (CL0000575)
Fold Change: 1.43
Marker Score: 1578
Cell Name: oligodendrocyte (CL0000128)
Fold Change: 1.39
Marker Score: 3318
Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: 1.36
Marker Score: 813
Cell Name: renal principal cell (CL0005009)
Fold Change: 1.34
Marker Score: 1029
Cell Name: renal alpha-intercalated cell (CL0005011)
Fold Change: 1.29
Marker Score: 681
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: 1.27
Marker Score: 10919
Cell Name: central nervous system macrophage (CL0000878)
Fold Change: 1.27
Marker Score: 630
Cell Name: oligodendrocyte precursor cell (CL0002453)
Fold Change: 1.26
Marker Score: 1554
Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
Fold Change: 1.24
Marker Score: 1339
Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: 1.21
Marker Score: 11504
Cell Name: ependymal cell (CL0000065)
Fold Change: 1.17
Marker Score: 409
Cell Name: epicardial adipocyte (CL1000309)
Fold Change: 1.15
Marker Score: 559
Cell Name: type G enteroendocrine cell (CL0000508)
Fold Change: 1.15
Marker Score: 395
Cell Name: ciliary muscle cell (CL1000443)
Fold Change: 1.13
Marker Score: 2488
Cell Name: luminal cell of prostate epithelium (CL0002340)
Fold Change: 1.12
Marker Score: 653
Cell Name: fat cell (CL0000136)
Fold Change: 1.11
Marker Score: 620
Cell Name: kidney connecting tubule epithelial cell (CL1000768)
Fold Change: 1.09
Marker Score: 1547
Cell Name: endothelial cell of vascular tree (CL0002139)
Fold Change: 1.09
Marker Score: 1580
Cell Name: mature microglial cell (CL0002629)
Fold Change: 1.07
Marker Score: 387
Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: 1.07
Marker Score: 1123
Cell Name: preosteoblast (CL0007010)
Fold Change: 1.06
Marker Score: 301
Cell Name: basal epithelial cell of prostatic duct (CL0002236)
Fold Change: 1.06
Marker Score: 941
Cell Name: neural cell (CL0002319)
Fold Change: 1.04
Marker Score: 504
Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: 1.04
Marker Score: 354
Cell Name: microglial cell (CL0000129)
Fold Change: 1.04
Marker Score: 1894
Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: 1.04
Marker Score: 15527
Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 1.04
Marker Score: 303
Cell Name: decidual natural killer cell, human (CL0002343)
Fold Change: 1.02
Marker Score: 2825
Cell Name: podocyte (CL0000653)
Fold Change: 1.02
Marker Score: 377
Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 1.02
Marker Score: 1152
Cell Name: cholangiocyte (CL1000488)
Fold Change: 1.02
Marker Score: 380
Cell Name: secondary lens fiber (CL0002225)
Fold Change: 1.02
Marker Score: 594
Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: 1.01
Marker Score: 2533
Cell Name: peripheral nervous system neuron (CL2000032)
Fold Change: 1.01
Marker Score: 1132
Cell Name: skeletal muscle fibroblast (CL0011027)
Fold Change: 1.01
Marker Score: 662
Cell Name: mature T cell (CL0002419)
Fold Change: 1
Marker Score: 9944
Cell Name: choroid plexus epithelial cell (CL0000706)
Fold Change: 1
Marker Score: 922
Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71609
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 0.99
Marker Score: 47834
Cell Name: renal interstitial pericyte (CL1001318)
Fold Change: 0.99
Marker Score: 945
Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
Fold Change: 0.98
Marker Score: 331
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30377
Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: 0.97
Marker Score: 3742
Cell Name: parietal epithelial cell (CL1000452)
Fold Change: 0.97
Marker Score: 352
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: 0.97
Marker Score: 1495
Cell Name: taste receptor cell (CL0000209)
Fold Change: 0.96
Marker Score: 831
Cell Name: progenitor cell of endocrine pancreas (CL0002351)
Fold Change: 0.96
Marker Score: 209
Cell Name: lung microvascular endothelial cell (CL2000016)
Fold Change: 0.96
Marker Score: 204
Cell Name: melanocyte (CL0000148)
Fold Change: 0.96
Marker Score: 388
Cell Name: astrocyte (CL0000127)
Fold Change: 0.96
Marker Score: 829
Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.95
Marker Score: 3989.5
Cell Name: epithelial cell of urethra (CL1000296)
Fold Change: 0.95
Marker Score: 750
Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.95
Marker Score: 227
Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: 0.95
Marker Score: 2814
Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
Fold Change: 0.95
Marker Score: 1003
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.94
Marker Score: 2384
Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: 0.94
Marker Score: 8806
Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
Fold Change: 0.93
Marker Score: 999
Cell Name: NKp44-negative group 3 innate lymphoid cell, human (CL0001080)
Fold Change: 0.93
Marker Score: 205
Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 0.92
Marker Score: 2250
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.92
Marker Score: 474
Cell Name: skeletal muscle satellite stem cell (CL0008011)
Fold Change: 0.92
Marker Score: 980
Cell Name: Schwann cell (CL0002573)
Fold Change: 0.92
Marker Score: 318
Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.91
Marker Score: 432
Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 0.91
Marker Score: 1346
Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
Fold Change: 0.91
Marker Score: 200
Cell Name: epithelial cell of prostate (CL0002231)
Fold Change: 0.9
Marker Score: 625
Cell Name: large pre-B-II cell (CL0000957)
Fold Change: 0.9
Marker Score: 2441
Cell Name: lung goblet cell (CL1000143)
Fold Change: 0.9
Marker Score: 258
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.89
Marker Score: 2678
Cell Name: cardiac mesenchymal cell (CL0000569)
Fold Change: 0.89
Marker Score: 220
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.89
Marker Score: 13920
Cell Name: lactocyte (CL0002325)
Fold Change: 0.89
Marker Score: 14243
Cell Name: retinal pigment epithelial cell (CL0002586)
Fold Change: 0.89
Marker Score: 261
Cell Name: chromaffin cell (CL0000166)
Fold Change: 0.88
Marker Score: 1241
Cell Name: alveolar type 2 fibroblast cell (CL4028006)
Fold Change: 0.88
Marker Score: 488
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5292
Cell Name: kidney interstitial cell (CL1000500)
Fold Change: 0.87
Marker Score: 619.5
Cell Name: alveolar macrophage (CL0000583)
Fold Change: 0.87
Marker Score: 22272
Cell Name: neural crest cell (CL0011012)
Fold Change: 0.87
Marker Score: 929
Cell Name: mesenchymal lymphangioblast (CL0005021)
Fold Change: 0.87
Marker Score: 194
Cell Name: NKp44-positive group 3 innate lymphoid cell, human (CL0001079)
Fold Change: 0.87
Marker Score: 196
Cell Name: Bergmann glial cell (CL0000644)
Fold Change: 0.86
Marker Score: 352
Cell Name: papillary tips cell (CL1000597)
Fold Change: 0.86
Marker Score: 173
Cell Name: sncg GABAergic cortical interneuron (CL4023015)
Fold Change: 0.86
Marker Score: 6567
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.86
Marker Score: 308
Cell Name: early pro-B cell (CL0002046)
Fold Change: 0.85
Marker Score: 8659
Cell Name: pancreatic stellate cell (CL0002410)
Fold Change: 0.85
Marker Score: 539
Cell Name: PP cell (CL0000696)
Fold Change: 0.85
Marker Score: 192
Cell Name: kidney collecting duct cell (CL1001225)
Fold Change: 0.85
Marker Score: 167
Cell Name: type A enteroendocrine cell (CL0002067)
Fold Change: 0.85
Marker Score: 343
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.85
Marker Score: 1381
Cell Name: migratory enteric neural crest cell (CL0002607)
Fold Change: 0.84
Marker Score: 794
Cell Name: enteric neuron (CL0007011)
Fold Change: 0.84
Marker Score: 449
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: 0.84
Marker Score: 875
Cell Name: leptomeningeal cell (CL0000708)
Fold Change: 0.84
Marker Score: 416

Hover over a box to see details here...

**Key characteristics:** - CBFB is a transcription factor that is highly expressed in Tregs. - It is essential for the development and survival of Tregs. - It is also involved in the regulation of other immune cell populations, such as dendritic cells and macrophages. **Pathways and functions:** - CBFB is involved in the regulation of Treg development and function. - It binds to DNA sequences known as E-box elements in the regulatory region of the Treg gene. - This binding activates the transcription of the Treg gene, which leads to the expression of Treg-specific proteins. - These proteins suppress the immune response by regulating the activity of immune cells and promoting immune tolerance. **Clinical significance:** - Mutations in the CBFB gene have been linked to the development of autoimmune diseases, such as rheumatoid arthritis, asthma, and lupus. - Targeting CBFB has been explored as a therapeutic strategy for these diseases. **Conclusion:** The CBFB gene is a critical regulator of Tregs and other immune cell populations. Its mutations can lead to the development of autoimmune diseases, highlighting its importance in maintaining immune homeostasis and preventing excessive immune responses.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Core-binding factor subunit beta

Genular Protein ID: 1594943014

Symbol: PEBB_HUMAN

Name: Core-binding factor subunit beta

UniProtKB Accession Codes:

Q13951 A8K347 Q13124 Q9HCT2

Database IDs:

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: 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: 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. For the full schema, download it here.

Details for: CBFB

Associated with

Cells (max top 100)

Other Information

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Fusion between transcription factor CBF beta/PEBP2 beta and a myosin heavy chain in acute myeloid leukemia. PubMed ID: 8351518

Structure of the leukemia-associated human CBFB gene. PubMed ID: 7607682

PubMed ID: 9064279

Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. PubMed ID: 17081983

A quantitative atlas of mitotic phosphorylation. PubMed ID: 18669648

Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. PubMed ID: 20068231

Initial characterization of the human central proteome. PubMed ID: 21269460

Structural basis for the heterodimeric interaction between the acute leukaemia-associated transcription factors AML1 and CBFbeta. PubMed ID: 10856244

The leukemia-associated AML1 (Runx1) -- CBF beta complex functions as a DNA-induced molecular clamp. PubMed ID: 11276260

Molecular insights into PEBP2/CBF beta-SMMHC associated acute leukemia revealed from the structure of PEBP2/CBF beta. PubMed ID: 10404215

The consensus coding sequences of human breast and colorectal cancers. PubMed ID: 16959974

Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia. PubMed ID: 36241386