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Aliases for CBFA2T3 Gene

Aliases for CBFA2T3 Gene

  • Core-Binding Factor, Runt Domain, Alpha Subunit 2; Translocated To, 3 2 3
  • MTGR2 3 4 6
  • MTG16 3 4 6
  • Myeloid Translocation Gene On Chromosome 16 Protein 3 4
  • Zinc Finger MYND Domain-Containing Protein 4 3 4
  • Myeloid Translocation Gene 8 And 16b 2 3
  • MTG8-Related Protein 2 3 4
  • ZMYND4 3 4
  • MTG8-Related Gene 2 3
  • Protein CBFA2T3 3
  • HMTG16 4
  • ETO2 3

External Ids for CBFA2T3 Gene

Summaries for CBFA2T3 Gene

Entrez Gene Summary for CBFA2T3 Gene

  • This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16;21)(q24;q22) translocation is one of the less common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]

GeneCards Summary for CBFA2T3 Gene

CBFA2T3 (Core-Binding Factor, Runt Domain, Alpha Subunit 2; Translocated To, 3) is a Protein Coding gene. Diseases associated with CBFA2T3 include acute megakaryoblastic leukemia without down syndrome and myeloid leukemia. Among its related pathways are ErbB4 signaling events. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and chromatin binding. An important paralog of this gene is RUNX1T1.

UniProtKB/Swiss-Prot for CBFA2T3 Gene

  • Functions as a transcriptional repressor. Regulates the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes. Plays a role in granulocyte differentiation

  • Isoform 2 functions as an A-kinase-anchoring protein

Gene Wiki entry for CBFA2T3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CBFA2T3 Gene

Genomics for CBFA2T3 Gene

Genomic Location for CBFA2T3 Gene

88,874,855 bp from pter
88,977,204 bp from pter
102,350 bases
Minus strand

Genomic View for CBFA2T3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CBFA2T3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CBFA2T3 Gene

Regulatory Elements for CBFA2T3 Gene

Proteins for CBFA2T3 Gene

  • Protein details for CBFA2T3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein CBFA2T3
    Protein Accession:
    Secondary Accessions:
    • D3DX78
    • O60615
    • O60616
    • O60617
    • O75082
    • O75107
    • O75108
    • Q0P5Z6
    • Q6P5W6

    Protein attributes for CBFA2T3 Gene

    653 amino acids
    Molecular mass:
    71192 Da
    Quaternary structure:
    • Component of a TAL-1 complex composed at least of CBFA2T3, LDB1, TAL1 and TCF3 (By similarity). Heterodimer with RUNX1T1 and CBFA2T2. Interacts with ERBB4, HDAC1, HDAC2, HDAC3, HDAC6, HDAC8, NCOR1, NCOR2, and ZNF652. According to PubMed:12242670, may not interact with HDAC6. Interacts with PLXNA1, PLXNA3 and PRKAR1A. Isoform 2 interacts with PRKAR2A, PDE7A and probably PDE4A.
    • Sequence=AAH62624.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=BAA31276.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAA31277.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for CBFA2T3 Gene


neXtProt entry for CBFA2T3 Gene

Proteomics data for CBFA2T3 Gene at MOPED

Post-translational modifications for CBFA2T3 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys535

No data available for DME Specific Peptides for CBFA2T3 Gene

Domains for CBFA2T3 Gene

Gene Families for CBFA2T3 Gene

  • AKAP :A-kinase anchor proteins
  • ZMYND :Zinc fingers, MYND-type

Protein Domains for CBFA2T3 Gene

Suggested Antigen Peptide Sequences for CBFA2T3 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 TAFH (NHR1) domain.:
    • O75081
  • Belongs to the CBFA2T family.:
    • O75081
  • Contains 1 MYND-type zinc finger.:
    • O75081
genes like me logo Genes that share domains with CBFA2T3: view

Function for CBFA2T3 Gene

Molecular function for CBFA2T3 Gene

GENATLAS Biochemistry: core binding factor Runt domain,alpha subunit 2, translocated to,3,mainly expressed in thymus and possibly in monocytes,with several isoforms due to alternative promoters,homolog to Drosophila nervy
UniProtKB/Swiss-Prot Function: Functions as a transcriptional repressor. Regulates the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes. Plays a role in granulocyte differentiation
UniProtKB/Swiss-Prot Function: Isoform 2 functions as an A-kinase-anchoring protein
UniProtKB/Swiss-Prot Induction: Down-regulated by all-trans retinoic acid (ATRA).

Gene Ontology (GO) - Molecular Function for CBFA2T3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IEA --
GO:0003700 sequence-specific DNA binding transcription factor activity IEA --
GO:0003714 transcription corepressor activity IBA --
GO:0005515 protein binding IPI 16966434
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CBFA2T3: view

Phenotypes for CBFA2T3 Gene

genes like me logo Genes that share phenotypes with CBFA2T3: view

Animal Models for CBFA2T3 Gene

MGI Knock Outs for CBFA2T3:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for CBFA2T3 Gene

Localization for CBFA2T3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CBFA2T3 Gene

Isoform 1: Nucleus, nucleolus. Note=The RUNX1-CBFA2T3 fusion protein localizes to the nucleoplasm.
Isoform 2: Nucleus, nucleoplasm. Golgi apparatus membrane.

Subcellular locations from

Jensen Localization Image for CBFA2T3 Gene COMPARTMENTS Subcellular localization image for CBFA2T3 gene
Compartment Confidence
golgi apparatus 5
nucleus 5
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CBFA2T3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005622 intracellular --
GO:0005634 nucleus IBA --
GO:0005654 nucleoplasm IEA --
GO:0005730 nucleolus IEA --
genes like me logo Genes that share ontologies with CBFA2T3: view

Pathways for CBFA2T3 Gene

SuperPathways for CBFA2T3 Gene

Superpath Contained pathways
1 ErbB4 signaling events
genes like me logo Genes that share pathways with CBFA2T3: view

Pathways by source for CBFA2T3 Gene

1 BioSystems pathway for CBFA2T3 Gene

Gene Ontology (GO) - Biological Process for CBFA2T3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated --
GO:0008283 cell proliferation TAS 9447981
GO:0030851 granulocyte differentiation IDA 15231665
GO:0045892 negative regulation of transcription, DNA-templated IBA --
genes like me logo Genes that share ontologies with CBFA2T3: view

Compounds for CBFA2T3 Gene

(1) Novoseek inferred chemical compound relationships for CBFA2T3 Gene

Compound -log(P) Hits PubMed IDs
retinoic acid 26.2 2
genes like me logo Genes that share compounds with CBFA2T3: view

Transcripts for CBFA2T3 Gene

Unigene Clusters for CBFA2T3 Gene

Core-binding factor, runt domain, alpha subunit 2; translocated to, 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CBFA2T3 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13
SP1: - -
SP2: - - -
SP3: -
SP5: -

Relevant External Links for CBFA2T3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CBFA2T3 Gene

mRNA expression in normal human tissues for CBFA2T3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CBFA2T3 Gene

This gene is overexpressed in Brain - Cerebellum (4.6) and Brain - Cerebellar Hemisphere (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CBFA2T3 Gene

SOURCE GeneReport for Unigene cluster for CBFA2T3 Gene Hs.513811

mRNA Expression by UniProt/SwissProt for CBFA2T3 Gene

Tissue specificity: Widely expressed with higher expression in heart, pancreas, skeletal muscle, spleen, thymus and peripheral blood leukocytes. Expressed in hematopoietic cells (at protein level).
genes like me logo Genes that share expressions with CBFA2T3: view

Orthologs for CBFA2T3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CBFA2T3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CBFA2T3 35
  • 92.98 (n)
  • 92.37 (a)
CBFA2T3 36
  • 99 (a)
(Bos Taurus)
Mammalia CBFA2T3 35
  • 86.11 (n)
  • 87.8 (a)
CBFA2T3 36
  • 89 (a)
(Canis familiaris)
Mammalia CBFA2T3 35
  • 87.12 (n)
  • 88.8 (a)
CBFA2T3 36
  • 89 (a)
(Mus musculus)
Mammalia Cbfa2t3 35
  • 84.35 (n)
  • 90.17 (a)
Cbfa2t3 16
Cbfa2t3 36
  • 88 (a)
(Monodelphis domestica)
Mammalia CBFA2T3 36
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia CBFA2T3 36
  • 65 (a)
(Rattus norvegicus)
Mammalia Cbfa2t3 35
  • 84.72 (n)
  • 89.11 (a)
(Gallus gallus)
Aves CBFA2T3 35
  • 82.33 (n)
  • 85.25 (a)
CBFA2T3 36
  • 81 (a)
(Anolis carolinensis)
Reptilia CBFA2T3 36
  • 73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cbfa2t3 35
  • 71.46 (n)
  • 78.83 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9080 35
(Danio rerio)
Actinopterygii CBFA2T3 36
  • 72 (a)
LOC563252 35
  • 74.24 (n)
  • 81.36 (a)
fruit fly
(Drosophila melanogaster)
Insecta nvy 35
  • 50.48 (n)
  • 40 (a)
nvy 36
  • 27 (a)
Species with no ortholog for CBFA2T3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CBFA2T3 Gene

Gene Tree for CBFA2T3 (if available)
Gene Tree for CBFA2T3 (if available)

Paralogs for CBFA2T3 Gene

Paralogs for CBFA2T3 Gene

genes like me logo Genes that share paralogs with CBFA2T3: view

Variants for CBFA2T3 Gene

Sequence variations from dbSNP and Humsavar for CBFA2T3 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs477085 -- 88,895,132(+) TCCGG(C/T)TAGGC intron-variant
rs477214 -- 88,912,294(+) GCTCG(C/T)CAAAG intron-variant
rs477639 -- 88,923,102(+) CAATT(C/T)GCCAA intron-variant
rs485441 -- 88,929,730(-) GACCA(C/T)GCAGC intron-variant
rs488193 -- 88,922,651(+) ACAGC(A/G)GCCAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CBFA2T3 Gene

Variant ID Type Subtype PubMed ID
nsv907226 CNV Loss 21882294
nsv907268 CNV Loss 21882294
dgv2979n71 CNV Loss 21882294
nsv907278 CNV Loss 21882294
dgv2989n71 CNV Gain 21882294
dgv2990n71 CNV Loss 21882294
dgv37n68 CNV Loss 17160897
dgv2992n71 CNV Loss 21882294
nsv471115 CNV Loss 18288195
nsv521217 CNV Loss 19592680
nsv907352 CNV Loss 21882294
dgv2997n71 CNV Loss 21882294
dgv2998n71 CNV Loss 21882294
nsv907357 CNV Loss 21882294
nsv907358 CNV Loss 21882294
nsv907359 CNV Loss 21882294
nsv1928 CNV Insertion 18451855
dgv507n67 CNV Gain 20364138
esv2715067 CNV Deletion 23290073
nsv907360 CNV Loss 21882294
nsv103408 CNV Insertion 16902084
nsv907362 CNV Gain 21882294
esv28032 CNV Loss 19812545
nsv103763 CNV Loss 16902084
esv1414625 CNV Insertion 17803354
esv4753 CNV Deletion 18987735
esv2715068 CNV Deletion 23290073
nsv827839 CNV Gain 20364138
esv2658652 CNV Deletion 23128226
nsv827840 CNV Gain 20364138
esv2715069 CNV Deletion 23290073
esv1433786 CNV Deletion 17803354
esv2715070 CNV Deletion 23290073
esv2036557 CNV Deletion 18987734
esv2715071 CNV Deletion 23290073
esv2715072 CNV Deletion 23290073
esv2715073 CNV Deletion 23290073
esv2715075 CNV Deletion 23290073
nsv512453 CNV Loss 21212237
esv2458116 CNV Deletion 19546169
esv2078105 CNV Deletion 18987734
esv28973 CNV Gain+Loss 19812545
esv1437918 CNV Deletion 17803354
esv998118 CNV Deletion 20482838
esv1211270 CNV Deletion 17803354
esv989499 CNV Deletion 20482838
esv1007500 CNV Deletion 20482838
esv1293084 CNV Deletion 17803354
esv1019051 CNV Deletion 17803354
esv2715076 CNV Deletion 23290073
esv2715077 CNV Deletion 23290073
esv1446888 CNV Insertion 17803354
esv2715078 CNV Deletion 23290073

Relevant External Links for CBFA2T3 Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CBFA2T3 Gene

Disorders for CBFA2T3 Gene


  • Note=A chromosomal aberration involving CBFA2T3 is found in therapy-related myeloid malignancies. Translocation t(16;21)(q24;q22) that forms a RUNX1-CBFA2T3 fusion protein.

(1) University of Copenhagen DISEASES for CBFA2T3 Gene

(3) Novoseek inferred disease relationships for CBFA2T3 Gene

Disease -log(P) Hits PubMed IDs
leukemia 43.3 1
breast cancer 11.5 5
tumors 0 6

Relevant External Links for CBFA2T3

Genetic Association Database (GAD)
genes like me logo Genes that share disorders with CBFA2T3: view

Publications for CBFA2T3 Gene

  1. CBFA2T1, a gene rearranged in human leukemia, is a member of a multigene family. (PMID: 9790752) Calabi F. … Cilli V. (Genomics 1998) 2 3 4 23
  2. CBFA2T3 (MTG16) is a putative breast tumor suppressor gene from the breast cancer loss of heterozygosity region at 16q24.3. (PMID: 12183414) Kochetkova M. … Callen D.F. (Cancer Res. 2002) 3 4 23
  3. The transcriptional corepressor MTG16a contains a novel nucleolar targeting sequence deranged in t(16; 21)-positive myeloid malignancies. (PMID: 12242670) Hoogeveen A.T. … Sacchi N. (Oncogene 2002) 3 4 23
  4. The partner gene of AML1 in t(16;21) myeloid malignancies is a novel member of the MTG8(ETO) family. (PMID: 9596646) Gamou T. … Ohki M. (Blood 1998) 3 4 23
  5. AML1-ETO decreases ETO-2 (MTG16) interactions with nuclear receptor corepressor, an effect that impairs granulocyte differentiation. (PMID: 15231665) Ibanez V. … Saunthararajah Y. (Cancer Res. 2004) 3 4 23

Products for CBFA2T3 Gene

Sources for CBFA2T3 Gene

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