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Aliases for CBFA2T2 Gene

Aliases for CBFA2T2 Gene

  • Core-Binding Factor, Runt Domain, Alpha Subunit 2; Translocated To, 2 2 3
  • MTGR1 3 4 6
  • EHT 3 4 6
  • Myeloid Translocation-Related Protein 1 3 4
  • ETO Homologous On Chromosome 20 3 4
  • MTG8-Related Protein 1 3 4
  • MTG8-Like Protein 3 4
  • P85 3 4
  • Myeloid Translocation Gene-Related Protein 1 3
  • ETO Homolog On Chromosome 20 3
  • Protein CBFA2T2 3
  • ZMYND3 3

External Ids for CBFA2T2 Gene

Summaries for CBFA2T2 Gene

Entrez Gene Summary for CBFA2T2 Gene

  • In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for CBFA2T2 Gene

CBFA2T2 (Core-Binding Factor, Runt Domain, Alpha Subunit 2; Translocated To, 2) is a Protein Coding gene. Diseases associated with CBFA2T2 include myeloid leukemia. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription corepressor activity. An important paralog of this gene is RUNX1T1.

UniProtKB/Swiss-Prot for CBFA2T2 Gene

  • May function as a complex with the chimeric protein RUNX1/AML1-CBFA2T1/MTG8 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

Gene Wiki entry for CBFA2T2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CBFA2T2 Gene

Genomics for CBFA2T2 Gene

Genomic Location for CBFA2T2 Gene

Start:
33,490,075 bp from pter
End:
33,650,036 bp from pter
Size:
159,962 bases
Orientation:
Plus strand

Genomic View for CBFA2T2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CBFA2T2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CBFA2T2 Gene

Regulatory Elements for CBFA2T2 Gene

Proteins for CBFA2T2 Gene

  • Protein details for CBFA2T2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43439-MTG8R_HUMAN
    Recommended name:
    Protein CBFA2T2
    Protein Accession:
    O43439
    Secondary Accessions:
    • B2RAE6
    • F8W6D7
    • Q5TGE4
    • Q5TGE5
    • Q5TGE6
    • Q5TGE7
    • Q8IWF3
    • Q96B06
    • Q96L00
    • Q9H436
    • Q9UJP8
    • Q9UJP9
    • Q9UP24

    Protein attributes for CBFA2T2 Gene

    Size:
    604 amino acids
    Molecular mass:
    67133 Da
    Quaternary structure:
    • Homooligomer and heterooligomer with MTG8. Forms a heterooligomer with the RUNX1/AML1-CBFA2T1/MTG8 chimeric protein, via an interaction with MTG8. Heterodimer with CBFA2T3
    SequenceCaution:
    • Sequence=AAC19378.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AK307887; Type=Frameshift; Positions=438; Evidence={ECO:0000305};

    Alternative splice isoforms for CBFA2T2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CBFA2T2 Gene

Proteomics data for CBFA2T2 Gene at MOPED

Post-translational modifications for CBFA2T2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CBFA2T2 Gene

Domains for CBFA2T2 Gene

Gene Families for CBFA2T2 Gene

HGNC:
  • ZMYND :Zinc fingers, MYND-type

Protein Domains for CBFA2T2 Gene

UniProtKB/Swiss-Prot:

MTG8R_HUMAN
Domain:
  • Contains 1 TAFH (NHR1) domain.:
    • O43439
Family:
  • Belongs to the CBFA2T family.:
    • O43439
Similarity:
  • Contains 1 MYND-type zinc finger.:
    • O43439
genes like me logo Genes that share domains with CBFA2T2: view

Function for CBFA2T2 Gene

Molecular function for CBFA2T2 Gene

GENATLAS Biochemistry: core binding factor Runt domain,alpha subunit 2,(RUNX1) translocated to 2,mainly expressed in brain,with several isoforms due to alternative promoters,partially overlapping syntrophin alpha (SNT1) and transcribed in opposite orientation,homolog to Drosophila nervy
UniProtKB/Swiss-Prot Function: May function as a complex with the chimeric protein RUNX1/AML1-CBFA2T1/MTG8 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

Gene Ontology (GO) - Molecular Function for CBFA2T2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 sequence-specific DNA binding transcription factor activity IEA --
GO:0003714 transcription corepressor activity IDA 19026687
GO:0005515 protein binding IPI 16189514
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CBFA2T2: view
genes like me logo Genes that share phenotypes with CBFA2T2: view

Animal Models for CBFA2T2 Gene

MGI Knock Outs for CBFA2T2:

miRNA for CBFA2T2 Gene

miRTarBase miRNAs that target CBFA2T2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for CBFA2T2 Gene

Localization for CBFA2T2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CBFA2T2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CBFA2T2 Gene COMPARTMENTS Subcellular localization image for CBFA2T2 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for CBFA2T2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 19026687
genes like me logo Genes that share ontologies with CBFA2T2: view

Pathways for CBFA2T2 Gene

SuperPathways for CBFA2T2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CBFA2T2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated --
GO:0010976 positive regulation of neuron projection development IDA 19026687
GO:0010977 negative regulation of neuron projection development ISS --
GO:0030855 epithelial cell differentiation IEA --
GO:0045892 negative regulation of transcription, DNA-templated IBA --
genes like me logo Genes that share ontologies with CBFA2T2: view

No data available for Pathways by source for CBFA2T2 Gene

Compounds for CBFA2T2 Gene

(2) Novoseek inferred chemical compound relationships for CBFA2T2 Gene

Compound -log(P) Hits PubMed IDs
phosphatidylinositol 50.8 1
tyrosine 33.4 1
genes like me logo Genes that share compounds with CBFA2T2: view

Transcripts for CBFA2T2 Gene

Unigene Clusters for CBFA2T2 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for CBFA2T2 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - - - -
SP4: - - - - -
SP5: - - - -
SP6:
SP7: - -
SP8: - - - - - -
SP9: - - - -
SP10: - - - -
SP11: -

ExUns: 16a · 16b ^ 17
SP1:
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for CBFA2T2 Gene

GeneLoc Exon Structure for
CBFA2T2
ECgene alternative splicing isoforms for
CBFA2T2

Expression for CBFA2T2 Gene

mRNA expression in normal human tissues for CBFA2T2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CBFA2T2 Gene

SOURCE GeneReport for Unigene cluster for CBFA2T2 Gene Hs.153934

mRNA Expression by UniProt/SwissProt for CBFA2T2 Gene

O43439-MTG8R_HUMAN
Tissue specificity: Ubiquitously expressed in fetal and adult tissues. Highly expressed in adult brain, heart, lung, kidney, lymph node, appendix, thymus, testis, uterus, small intestine, prostate and thymus.
genes like me logo Genes that share expressions with CBFA2T2: view

Orthologs for CBFA2T2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CBFA2T2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CBFA2T2 36
  • 99.72 (n)
  • 99.83 (a)
CBFA2T2 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CBFA2T2 36
  • 90.87 (n)
  • 97.48 (a)
CBFA2T2 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CBFA2T2 36
  • 91.44 (n)
  • 97.26 (a)
CBFA2T2 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cbfa2t2 36
  • 89.56 (n)
  • 96.63 (a)
Cbfa2t2 16
Cbfa2t2 37
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CBFA2T2 37
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CBFA2T2 37
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cbfa2t2 36
  • 89.28 (n)
  • 95.29 (a)
chicken
(Gallus gallus)
Aves CBFA2T2 36
  • 77.05 (n)
  • 85.1 (a)
CBFA2T2 37
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CBFA2T2 37
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cbfa2t2 36
  • 72.62 (n)
  • 79.38 (a)
Str.4001 36
zebrafish
(Danio rerio)
Actinopterygii cbfa2t2 37
  • 68 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010867 36
  • 56.58 (n)
  • 52.63 (a)
fruit fly
(Drosophila melanogaster)
Insecta nvy 37
  • 22 (a)
OneToMany
Species with no ortholog for CBFA2T2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 CBFA2T2 Gene

ENSEMBL:
Gene Tree for CBFA2T2 (if available)
TreeFam:
Gene Tree for CBFA2T2 (if available)

Paralogs for CBFA2T2 Gene

Paralogs for CBFA2T2 Gene

Selected SIMAP similar genes for CBFA2T2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CBFA2T2: view

Variants for CBFA2T2 Gene

Sequence variations from dbSNP and Humsavar for CBFA2T2 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs3970 -- 33,594,148(-) tattg(C/T)tagaa intron-variant
rs209661 -- 33,549,428(-) ccttt(C/T)tactg intron-variant
rs209662 -- 33,544,950(-) attct(A/G)ttctg intron-variant
rs209663 -- 33,544,426(-) AATAA(A/G)CTGGT intron-variant
rs209664 -- 33,542,114(-) AGAAT(A/G)GGGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CBFA2T2 Gene

Variant ID Type Subtype PubMed ID
nsv522690 CNV Loss 19592680
esv24338 CNV Loss 19812545
esv2660082 CNV Deletion 23128226
nsv833960 CNV Loss 17160897
esv2672530 CNV Deletion 23128226
nsv833961 CNV Loss 17160897
esv2722353 CNV Deletion 23290073

Relevant External Links for CBFA2T2 Gene

HapMap Linkage Disequilibrium report
CBFA2T2
Human Gene Mutation Database (HGMD)
CBFA2T2

Disorders for CBFA2T2 Gene

(1) MalaCards Diseases for CBFA2T2 Gene

Search for CBFA2T2 Gene in MalaCards »

(2) Novoseek inferred disease relationships for CBFA2T2 Gene

Disease -log(P) Hits PubMed IDs
leukemogenesis 61.8 2
lymphoma 7.82 2
genes like me logo Genes that share disorders with CBFA2T2: view

No data available for UniProtKB/Swiss-Prot for CBFA2T2 Gene

Publications for CBFA2T2 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. The AML1-MTG8 leukemic fusion protein forms a complex with a novel member of the MTG8(ETO/CDR) family, MTGR1. (PMID: 9447981) Kitabayashi I. … Ohki M. (Mol. Cell. Biol. 1998) 3 4 23
  3. Structure and expression pattern of a human MTG8/ETO family gene, MTGR1. (PMID: 10675041) Morohoshi F. … Ohki M. (Gene 2000) 3 4 23
  4. EHT, a new member of the MTG8/ETO gene family, maps on 20q11 region and is deleted in acute myeloid leukemias. (PMID: 9787195) Fracchiolla N.S. … Neri A. (Blood 1998) 3 4
  5. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4

Products for CBFA2T2 Gene

Sources for CBFA2T2 Gene

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