CBFA2T2
entrez
9139
canonical
uniprot
O43439
canonical
ensembl
ENSG00000078699
resolver
ensp
ENSP00000262653
resolver
ensp
ENSP00000345810
resolver
ensp
ENSP00000380902
resolver
genesymbol
CBFA2T2
resolver
genesymbol_syn
EHT
resolver
genesymbol_syn
MTGR1
resolver
hgnc
HGNC:1536
resolver
uniprot
B2RAE6
resolver
uniprot
F8W6D7
resolver
uniprot
Q5TGE4
resolver
uniprot
Q5TGE5
resolver
uniprot
Q5TGE6
resolver
uniprot
Q5TGE7
resolver
uniprot
Q8IWF3
resolver
uniprot
Q96B06
resolver
uniprot
Q96L00
resolver
uniprot
Q9H436
resolver
uniprot
Q9UJP8
resolver
uniprot
Q9UJP9
resolver
uniprot
Q9UP24
resolver
uniprot_entry
MTG8R_HUMAN
resolver
uniprot_sec
B2RAE6
resolver
uniprot_sec
F8W6D7
resolver
uniprot_sec
Q5TGE4
resolver
uniprot_sec
Q5TGE5
resolver
uniprot_sec
Q5TGE6
resolver
uniprot_sec
Q5TGE7
resolver
uniprot_sec
Q8IWF3
resolver
uniprot_sec
Q96B06
resolver
uniprot_sec
Q96L00
resolver
uniprot_sec
Q9H436
resolver
uniprot_sec
Q9UJP8
resolver
uniprot_sec
Q9UJP9
resolver
uniprot_sec
Q9UP24
resolver
amino_acid_sequence
MAKESGISLKEIQVLARQWKVGPEKRVPAMPGSPVEVKIQSRSSPPTMPPLPPINPGGPRPVSFTPTALSNGINHSPPTLNGAPSPPQRFSNGPASSTSSALTNQQLPATCGARQLSKLKRFLTTLQQFGNDISPEIGEKVRTLVLALVNSTVTIEEFHCKLQEATNFPLRPFVIPFLKANLPLLQRELLHCARAAKQTPSQYLAQHEHLLLNTSIASPADSSELLMEVHGNGKRPSPERREENSFDRDTIAPEPPAKRVCTISPAPRHSPALTVPLMNPGGQFHPTPPPLQHYTLEDIATSHLYREPNKMLEHREVRDRHHSLGLNGGYQDELVDHRLTEREWADEWKHLDHALNCIMEMVEKTRRSMAVLRRCQESDREELNYWKRRYNENTELRKTGTELVSRQHSPGSADSLSNDSQREFNSRPGTGYVPVEFWKKTEEAVNKVKIQAMSEVQKAVAEAEQKAFEVIATERARMEQTIADVKRQAAEDAFLVINEQEESTENCWNCGRKASETCSGCNIARYCGSFCQHKDWERHHRLCGQNLHGQSPHGQGRPLLPVGRGSSARSADCSVPSPALDKTSATTSRSSTPASVTAIDTNGL
uniprot
proteins
disease_involvement
DISEASE: Note=A chromosomal aberration involving CBFA2T2 is found in childhood precursor B-cell acute lymphoblastic leukemia (pre-B ALL). Translocation t(9;20)(p13;q11) with PAX5. {ECO:0000269|PubMed:26115422}.; DISEASE: Note=A chromosomal aberration involving CBFA2T2 is found in acute myeloid leukemia. Translocation t(20;21)(q11;q22) with RUNX1/AML1. {ECO:0000269|PubMed:20520637}.
uniprot
proteins
function
FUNCTION: Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes (PubMed:12559562, PubMed:15203199). Via association with PRDM14 is involved in regulation of embryonic stem cell (ESC) pluripotency (PubMed:27281218). Involved in primordial germ cell (PCG) formation. Stabilizes PRDM14 and OCT4 on chromatin in a homooligomerization-dependent manner (By similarity). Can repress the expression of MMP7 in a ZBTB33-dependent manner (PubMed:23251453). May function as a complex with the chimeric protein RUNX1/AML1-CBFA2T1/MTG8 (AML1-MTG8/ETO fusion protein) which is produced in acute myeloid leukemia with the chromosomal translocation t(8;21). May thus be involved in the repression of AML1-dependent transcription and the induction of G-CSF/CSF3-dependent cell growth. May be a tumor suppressor gene candidate involved in myeloid tumors with the deletion of the 20q11 region. Through heteromerization with CBFA2T3/MTG16 may be involved in regulation of the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes (By similarity). Required for the maintenance of the secretory cell lineage in the small intestine. Can inhibit Notch signaling probably by association with RBPJ and may be involved in GFI1-mediated Paneth cell differentiation (By similarity). {ECO:0000250|UniProtKB:O70374, ECO:0000269|PubMed:23251453, ECO:0000303|PubMed:12559562, ECO:0000303|PubMed:15203199}.
uniprot
proteins
mass_dalton
67133
uniprot
proteins
protein_family
CBFA2T family
uniprot
proteins
pubmed
10675041
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12242670
uniprot
proteins
pubmed
12559562
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14703694
uniprot
proteins
pubmed
15203199
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16616331
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20520637
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23251453
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26115422
uniprot
proteins
pubmed
27281218
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
9447981
uniprot
proteins
pubmed
9787195
uniprot
proteins
pubmed
9790752
uniprot
proteins
sequence_length
604
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins