Details for: CBFA2T2

Gene ID: 9139

Symbol: CBFA2T2

Ensembl ID: ENSG00000078699

Description: CBFA2/RUNX1 partner transcriptional co-repressor 2

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: 370.2139
    Cell Significance Index: -57.5900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 226.0654
    Cell Significance Index: -57.3400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 123.3260
    Cell Significance Index: -58.2300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 46.8995
    Cell Significance Index: -57.8300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 19.2619
    Cell Significance Index: -51.6000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 17.0110
    Cell Significance Index: -37.2300
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 16.1650
    Cell Significance Index: -49.6500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 14.7439
    Cell Significance Index: -58.1800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.8959
    Cell Significance Index: 574.7000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 2.8107
    Cell Significance Index: 157.7200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 2.5406
    Cell Significance Index: 71.0000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.4910
    Cell Significance Index: 499.6900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.0769
    Cell Significance Index: 744.9600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 2.0296
    Cell Significance Index: 136.4700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.6288
    Cell Significance Index: 125.0000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.4282
    Cell Significance Index: 987.8100
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 1.4244
    Cell Significance Index: 34.1600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 1.3780
    Cell Significance Index: 84.7000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 1.2667
    Cell Significance Index: 56.0300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.2628
    Cell Significance Index: 32.4600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 1.2520
    Cell Significance Index: 47.4100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 1.2027
    Cell Significance Index: 34.3200
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.1787
    Cell Significance Index: 14.6200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9800
    Cell Significance Index: 159.3800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.9587
    Cell Significance Index: 111.7300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.9455
    Cell Significance Index: 12.9000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.9092
    Cell Significance Index: 98.9000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.7209
    Cell Significance Index: 14.0700
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.6306
    Cell Significance Index: 13.4800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.6235
    Cell Significance Index: 28.2600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.6148
    Cell Significance Index: 17.7200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5568
    Cell Significance Index: 33.4300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.4973
    Cell Significance Index: 10.8900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.4658
    Cell Significance Index: 29.3600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3905
    Cell Significance Index: 352.6100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3819
    Cell Significance Index: 26.4100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.3784
    Cell Significance Index: 712.3900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3509
    Cell Significance Index: 43.1500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3422
    Cell Significance Index: 61.6800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.2181
    Cell Significance Index: 138.5200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1914
    Cell Significance Index: 3.2800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.1816
    Cell Significance Index: 82.4200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.1757
    Cell Significance Index: 270.4700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1670
    Cell Significance Index: 308.0100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1540
    Cell Significance Index: 29.3000
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.1535
    Cell Significance Index: 1.8300
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 0.1447
    Cell Significance Index: 1.4600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1425
    Cell Significance Index: 77.8000
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.1069
    Cell Significance Index: 1.5400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.1018
    Cell Significance Index: 138.3600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0948
    Cell Significance Index: 41.9100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0588
    Cell Significance Index: 2.0700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0392
    Cell Significance Index: 3.8800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0146
    Cell Significance Index: -0.3900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0250
    Cell Significance Index: -3.6400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0300
    Cell Significance Index: -22.2100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0521
    Cell Significance Index: -32.5100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0523
    Cell Significance Index: -38.3600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0639
    Cell Significance Index: -8.7700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0693
    Cell Significance Index: -39.1100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0755
    Cell Significance Index: -57.1200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1089
    Cell Significance Index: -18.5900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1371
    Cell Significance Index: -28.8800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1680
    Cell Significance Index: -48.3300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1735
    Cell Significance Index: -22.2400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.2529
    Cell Significance Index: -29.8200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.2612
    Cell Significance Index: -26.6900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2980
    Cell Significance Index: -15.4800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.3097
    Cell Significance Index: -40.0100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3200
    Cell Significance Index: -16.8000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3451
    Cell Significance Index: -35.9300
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.3643
    Cell Significance Index: -41.5800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.3719
    Cell Significance Index: -17.4800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.3813
    Cell Significance Index: -17.7800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3973
    Cell Significance Index: -45.5200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.4146
    Cell Significance Index: -8.8300
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: -0.4884
    Cell Significance Index: -6.8300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.5028
    Cell Significance Index: -37.4700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.5295
    Cell Significance Index: -34.1600
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.5767
    Cell Significance Index: -14.0700
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.5798
    Cell Significance Index: -8.5600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.5917
    Cell Significance Index: -18.9500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.5919
    Cell Significance Index: -41.8600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.6085
    Cell Significance Index: -48.1900
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: -0.6714
    Cell Significance Index: -5.9600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.6905
    Cell Significance Index: -17.2600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.7041
    Cell Significance Index: -43.1700
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.7226
    Cell Significance Index: -9.0100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.7378
    Cell Significance Index: -15.6600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.7438
    Cell Significance Index: -23.6900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.7773
    Cell Significance Index: -25.4500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.7860
    Cell Significance Index: -13.1600
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.7948
    Cell Significance Index: -15.7200
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: -0.8299
    Cell Significance Index: -5.1200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.8528
    Cell Significance Index: -44.4200
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.9009
    Cell Significance Index: -11.3700
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.9016
    Cell Significance Index: -18.1000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.9232
    Cell Significance Index: -32.0800
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.9641
    Cell Significance Index: -16.6700
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -1.0003
    Cell Significance Index: -10.4200

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:** CBFA2T2 is a highly conserved gene, with its expression observed in a wide range of cell types, including neurons, epithelial cells, and immune cells. Its protein product, MTG8R_HUMAN, exhibits a unique structure, consisting of a coiled-coil domain and a RING finger motif, which are essential for its co-repressor function. Notably, CBFA2T2 is specifically expressed in cells of the nervous system, including neurons, photoreceptors, and astrocytes, highlighting its involvement in neural development and function. **Pathways and Functions:** CBFA2T2 modulates the activity of various transcription factors, influencing the expression of genes involved in critical biological pathways. Its co-repressor function is implicated in: 1. **Intestinal epithelial cell differentiation**: CBFA2T2 regulates the expression of genes involved in the differentiation of intestinal epithelial cells, ensuring proper gut development and function. 2. **Neuron projection development**: CBFA2T2 modulates the activity of transcription factors involved in neuron projection development, influencing the formation of axons and dendrites. 3. **Notch signaling pathway**: CBFA2T2 negatively regulates the Notch signaling pathway, which is crucial for cell fate determination, proliferation, and differentiation. 4. **Transcriptional regulation**: CBFA2T2 interacts with RNA polymerase II, influencing the expression of genes involved in transcriptional regulation. **Clinical Significance:** The dysregulation of CBFA2T2 has been implicated in various diseases, including: 1. **Neurological disorders**: Mutations in CBFA2T2 have been associated with neurological disorders, such as autism spectrum disorder and schizophrenia. 2. **Cancer**: CBFA2T2 is often downregulated in cancer cells, suggesting its potential role as a tumor suppressor. 3. **Immune system dysfunction**: CBFA2T2 has been implicated in the regulation of immune cell function, highlighting its potential role in immune system disorders. In conclusion, CBFA2T2 is a complex gene that plays a critical role in regulating various biological pathways, including transcription, differentiation, and development. Further studies are needed to fully elucidate the mechanisms by which CBFA2T2 modulates gene expression and its implications for human health.

Genular Protein ID: 1813931262

Symbol: MTG8R_HUMAN

Name: Protein CBFA2T2

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9787195

Title: EHT, a new member of the MTG8/ETO gene family, maps on 20q11 region and is deleted in acute myeloid leukemias.

PubMed ID: 9787195

PubMed ID: 9447981

Title: The AML1-MTG8 leukemic fusion protein forms a complex with a novel member of the MTG8(ETO/CDR) family, MTGR1.

PubMed ID: 9447981

DOI: 10.1128/mcb.18.2.846

PubMed ID: 10675041

Title: Structure and expression pattern of a human MTG8/ETO family gene, MTGR1.

PubMed ID: 10675041

DOI: 10.1016/s0378-1119(99)00481-3

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

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: 9790752

Title: CBFA2T1, a gene rearranged in human leukemia, is a member of a multigene family.

PubMed ID: 9790752

DOI: 10.1006/geno.1998.5429

PubMed ID: 12242670

Title: The transcriptional corepressor MTG16a contains a novel nucleolar targeting sequence deranged in t(16; 21)-positive myeloid malignancies.

PubMed ID: 12242670

DOI: 10.1038/sj.onc.1205882

PubMed ID: 14703694

Title: Interactions between the leukaemia-associated ETO homologues of nuclear repressor proteins.

PubMed ID: 14703694

DOI: 10.1046/j.0902-4441.2003.00166.x

PubMed ID: 12559562

Title: The ETO (MTG8) gene family.

PubMed ID: 12559562

DOI: 10.1016/s0378-1119(02)01172-1

PubMed ID: 15203199

Title: The MTG proteins: chromatin repression players with a passion for networking.

PubMed ID: 15203199

DOI: 10.1016/j.ygeno.2004.02.011

PubMed ID: 16616331

Title: The tetramer structure of the Nervy homology two domain, NHR2, is critical for AML1/ETO's activity.

PubMed ID: 16616331

DOI: 10.1016/j.ccr.2006.03.012

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20520637

Title: CBFA2T2 and C20orf112: two novel fusion partners of RUNX1 in acute myeloid leukemia.

PubMed ID: 20520637

DOI: 10.1038/leu.2010.106

PubMed ID: 20068231

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

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23251453

Title: Kaiso directs the transcriptional corepressor MTG16 to the Kaiso binding site in target promoters.

PubMed ID: 23251453

DOI: 10.1371/journal.pone.0051205

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 26115422

Title: PAX5 alterations in genetically unclassified childhood Precursor B-cell acute lymphoblastic leukaemia.

PubMed ID: 26115422

DOI: 10.1111/bjh.13543

PubMed ID: 27281218

Title: Co-repressor CBFA2T2 regulates pluripotency and germline development.

PubMed ID: 27281218

DOI: 10.1038/nature18004

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

Sequence Information:

  • Length: 604
  • Mass: 67133
  • Checksum: 1E55618844908169
  • Sequence:
  • MAKESGISLK EIQVLARQWK VGPEKRVPAM PGSPVEVKIQ SRSSPPTMPP LPPINPGGPR 
    PVSFTPTALS NGINHSPPTL NGAPSPPQRF SNGPASSTSS ALTNQQLPAT CGARQLSKLK 
    RFLTTLQQFG NDISPEIGEK VRTLVLALVN STVTIEEFHC KLQEATNFPL RPFVIPFLKA 
    NLPLLQRELL HCARAAKQTP SQYLAQHEHL LLNTSIASPA DSSELLMEVH GNGKRPSPER 
    REENSFDRDT IAPEPPAKRV CTISPAPRHS PALTVPLMNP GGQFHPTPPP LQHYTLEDIA 
    TSHLYREPNK MLEHREVRDR HHSLGLNGGY QDELVDHRLT EREWADEWKH LDHALNCIME 
    MVEKTRRSMA VLRRCQESDR EELNYWKRRY NENTELRKTG TELVSRQHSP GSADSLSNDS 
    QREFNSRPGT GYVPVEFWKK TEEAVNKVKI QAMSEVQKAV AEAEQKAFEV IATERARMEQ 
    TIADVKRQAA EDAFLVINEQ EESTENCWNC GRKASETCSG CNIARYCGSF CQHKDWERHH 
    RLCGQNLHGQ SPHGQGRPLL PVGRGSSARS ADCSVPSPAL DKTSATTSRS STPASVTAID 
    TNGL

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.