Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CBFA2T2 Gene

Aliases for CBFA2T2 Gene

  • CBFA2/RUNX1 Translocation Partner 2 2 3
  • Core-Binding Factor, Runt Domain, Alpha Subunit 2; Translocated To, 2 2 3
  • 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
  • MTGR1 3 4
  • P85 3 4
  • EHT 3 4
  • Core-Binding Factor, Runt Domain, Alpha Subunit 2 Translocated To, 2 5
  • Myeloid Translocation Gene-Related Protein 1 3
  • ETO Homolog On Chromosome 20 3
  • ZMYND3 3

External Ids for CBFA2T2 Gene

Previous GeneCards Identifiers for CBFA2T2 Gene

  • GC20P031908
  • GC20P032818
  • GC20P032865
  • GC20P031476
  • GC20P032077
  • GC20P028864

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 (CBFA2/RUNX1 Translocation Partner 2) is a Protein Coding gene. Diseases associated with CBFA2T2 include myeloid leukemia and leukemia, acute myeloid. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription corepressor activity. An important paralog of this gene is RUNX1T1.

UniProtKB/Swiss-Prot for CBFA2T2 Gene

  • 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). 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 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

Regulatory Elements for CBFA2T2 Gene

Promoters for CBFA2T2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CBFA2T2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CBFA2T2 Gene

Chromosome:
20
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

Genes around CBFA2T2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CBFA2T2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CBFA2T2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Antibody Products

No data available for DME Specific Peptides for CBFA2T2 Gene

Domains & Families for CBFA2T2 Gene

Gene Families for CBFA2T2 Gene

Protein Domains for CBFA2T2 Gene

Suggested Antigen Peptide Sequences for CBFA2T2 Gene

Graphical View of Domain Structure for InterPro Entry

O43439

UniProtKB/Swiss-Prot:

MTG8R_HUMAN :
  • Contains 1 TAFH (NHR1) domain.
  • Belongs to the CBFA2T family.
  • Contains 1 MYND-type zinc finger.
Domain:
  • Contains 1 TAFH (NHR1) domain.
Family:
  • Belongs to the CBFA2T family.
Similarity:
  • Contains 1 MYND-type zinc finger.
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:
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). 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 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:0005515 protein binding IPI 16189514
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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

No data available for Gene Ontology (GO) - Cellular Components for CBFA2T2 Gene

Pathways & Interactions 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: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:0045944 positive regulation of transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with CBFA2T2: view

No data available for Pathways by source and SIGNOR curated interactions for CBFA2T2 Gene

Drugs & Compounds for CBFA2T2 Gene

(1) Drugs for CBFA2T2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for CBFA2T2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

Protein differential expression in normal tissues from HIPED for CBFA2T2 Gene

This gene is overexpressed in Platelet (60.6) and Heart (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CBFA2T2: view

Protein tissue co-expression partners for CBFA2T2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CBFA2T2 Gene

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 35
  • 99.72 (n)
  • 99.83 (a)
CBFA2T2 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CBFA2T2 36
  • 96 (a)
OneToOne
CBFA2T2 35
  • 90.87 (n)
  • 97.48 (a)
dog
(Canis familiaris)
Mammalia CBFA2T2 35
  • 91.44 (n)
  • 97.26 (a)
CBFA2T2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cbfa2t2 16
Cbfa2t2 36
  • 95 (a)
OneToOne
Cbfa2t2 35
  • 89.56 (n)
  • 96.63 (a)
oppossum
(Monodelphis domestica)
Mammalia CBFA2T2 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CBFA2T2 36
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cbfa2t2 35
  • 89.28 (n)
  • 95.29 (a)
chicken
(Gallus gallus)
Aves CBFA2T2 35
  • 77.05 (n)
  • 85.1 (a)
CBFA2T2 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CBFA2T2 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cbfa2t2 35
  • 72.62 (n)
  • 79.38 (a)
Str.4001 35
zebrafish
(Danio rerio)
Actinopterygii cbfa2t2 36
  • 68 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010867 35
  • 56.58 (n)
  • 52.63 (a)
fruit fly
(Drosophila melanogaster)
Insecta nvy 36
  • 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

(5) 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
rs960808 -- 33,607,797(-) GAATA(G/T)GACTA intron-variant
rs960809 -- 33,607,634(-) accat(C/T)tacaa intron-variant
rs1755762 -- 33,545,010(-) GTTCT(A/G)TTCTA intron-variant
rs209661 -- 33,549,428(-) ccttt(C/T)tactg intron-variant
rs209662 -- 33,544,950(-) attct(A/G)ttctg 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

Variation tolerance for CBFA2T2 Gene

Residual Variation Intolerance Score: 11.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.62; 31.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CBFA2T2 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CBFA2T2 Gene

Disorders for CBFA2T2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CBFA2T2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
myeloid leukemia
  • leukemia myelogenous
leukemia, acute myeloid
  • leukemia, acute myeloid, somatic
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CBFA2T2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CBFA2T2
genes like me logo Genes that share disorders with CBFA2T2: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 67
  2. Loss of function genetic screens reveal MTGR1 as an intracellular repressor of beta1 integrin-dependent neurite outgrowth. (PMID: 19026687) Ossovskaya V.S. … Basbaum A.I. (J. Neurosci. Methods 2009) 3 23
  3. Transcriptional repression by leukaemia-associated ETO family members can be independent of oligomerization and coexpressed hSIN3B and N-CoR. (PMID: 18586123) Olsson A. … Dhanda R.S. (Biochim. Biophys. Acta 2008) 3 23
  4. Interactions between the leukaemia-associated ETO homologues of nuclear repressor proteins. (PMID: 14703694) Lindberg S.R. … Olsson I. (Eur. J. Haematol. 2003) 3 23
  5. Structure and expression pattern of a human MTG8/ETO family gene, MTGR1. (PMID: 10675041) Morohoshi F. … Ohki M. (Gene 2000) 3 23

Products for CBFA2T2 Gene

Sources for CBFA2T2 Gene

Back to Top

Content