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)

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

  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 3.38
    Marker Score: 17,719
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 3.09
    Marker Score: 2,475
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 3.04
    Marker Score: 2,292
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 2.81
    Marker Score: 9,435
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 2.71
    Marker Score: 1,521
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 2.68
    Marker Score: 90,432
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.62
    Marker Score: 55,838
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 2.44
    Marker Score: 1,263
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 2.38
    Marker Score: 755
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 2.35
    Marker Score: 12,616
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.32
    Marker Score: 17,807
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.31
    Marker Score: 34,520
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.29
    Marker Score: 87,060
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 2.28
    Marker Score: 9,546
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.28
    Marker Score: 45,340
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 2.25
    Marker Score: 2,548
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 2.24
    Marker Score: 1,936
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 2.21
    Marker Score: 1,815
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 2.21
    Marker Score: 1,281
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.2
    Marker Score: 9,134
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.2
    Marker Score: 81,265
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 2.13
    Marker Score: 9,869
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 2.11
    Marker Score: 1,628
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 2.05
    Marker Score: 860
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 2.05
    Marker Score: 2,549
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.04
    Marker Score: 7,899
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.01
    Marker Score: 18,943
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 2
    Marker Score: 2,215
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.99
    Marker Score: 1,385
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.97
    Marker Score: 121,181
  • Cell Name: granule cell (CL0000120)
    Fold Change: 1.97
    Marker Score: 14,852
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.96
    Marker Score: 2,377
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.96
    Marker Score: 2,634
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1.91
    Marker Score: 1,009
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 1.9
    Marker Score: 4,377
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 1.89
    Marker Score: 5,399
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.89
    Marker Score: 3,638
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.89
    Marker Score: 1,100
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 1.88
    Marker Score: 3,154
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.84
    Marker Score: 17,526
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.83
    Marker Score: 2,107
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.83
    Marker Score: 534
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.82
    Marker Score: 1,066
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 1.82
    Marker Score: 7,578
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 1.82
    Marker Score: 873
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.82
    Marker Score: 18,758
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.81
    Marker Score: 6,431
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.79
    Marker Score: 5,867
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.78
    Marker Score: 15,284
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.78
    Marker Score: 39,739
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.78
    Marker Score: 3,903
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.77
    Marker Score: 7,216
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 1.75
    Marker Score: 1,153
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 1.75
    Marker Score: 2,460
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 1.65
    Marker Score: 545
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.61
    Marker Score: 1,428
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.61
    Marker Score: 1,393
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 1.6
    Marker Score: 890
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.59
    Marker Score: 1,713
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.58
    Marker Score: 783
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.57
    Marker Score: 2,419
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.53
    Marker Score: 419
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 1.53
    Marker Score: 483
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.47
    Marker Score: 3,674
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 167,380
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.45
    Marker Score: 3,480
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 1.4
    Marker Score: 510
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 1.38
    Marker Score: 397
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.37
    Marker Score: 766
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 1.35
    Marker Score: 351
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.29
    Marker Score: 773
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.29
    Marker Score: 1,232
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.29
    Marker Score: 22,912
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 1.28
    Marker Score: 1,550
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.27
    Marker Score: 488
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.27
    Marker Score: 834
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 1.25
    Marker Score: 675
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.24
    Marker Score: 2,917
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.21
    Marker Score: 19,432
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.21
    Marker Score: 4,291
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 1.21
    Marker Score: 599
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.2
    Marker Score: 18,817
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.2
    Marker Score: 1,701
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 1.18
    Marker Score: 830
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 1.17
    Marker Score: 299
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 1.11
    Marker Score: 416
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 1.1
    Marker Score: 222
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.08
    Marker Score: 366
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.08
    Marker Score: 1,330
  • Cell Name: podocyte (CL0000653)
    Fold Change: 1.05
    Marker Score: 388
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 1.04
    Marker Score: 329
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.03
    Marker Score: 621
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 1.03
    Marker Score: 376
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.02
    Marker Score: 493
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,680
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47,906
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.99
    Marker Score: 6,372
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.99
    Marker Score: 1,037
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.98
    Marker Score: 572
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,391

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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:

O43439 B2RAE6 F8W6D7 Q5TGE4 Q5TGE5 Q5TGE6 Q5TGE7 Q8IWF3 Q96B06 Q96L00 Q9H436 Q9UJP8 Q9UJP9 Q9UP24

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChEBI 8 ChiTaRS 1 DIP 1 DNASU 1 DisGeNET 1 EMBL 24 EPD 1 Ensembl 7 ExpressionAtlas 1 GO 11 Gene3D 3 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRINTS 2 PRO 1 PROSITE 3 PROSITE-ProRule 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 5 Pumba 1 RNAct 1 Reactome 1 RefSeq 6 SAM 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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.