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Aliases for CBFA2T3 Gene

Aliases for CBFA2T3 Gene

  • CBFA2/RUNX1 Translocation Partner 3 2 3 5
  • Core-Binding Factor, Runt Domain, Alpha Subunit 2; Translocated To, 3 2 3
  • 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
  • MTG16 3 4
  • MTGR2 3 4
  • MTG8-Related Gene 2 3
  • Protein CBFA2T3 3
  • RUNX1T3 3
  • HMTG16 4
  • ETO2 3

External Ids for CBFA2T3 Gene

Previous GeneCards Identifiers for CBFA2T3 Gene

  • GC16P080276
  • GC16P089937
  • GC16M088644
  • GC16M088685
  • GC16M087468
  • GC16M088941
  • GC16M074638

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 (CBFA2/RUNX1 Translocation Partner 3) is a Protein Coding gene. Diseases associated with CBFA2T3 include Acute Megakaryoblastic Leukemia Without Down Syndrome and Leukemia, Acute Myeloid. Among its related pathways are Signaling by ERBB4 and Hematopoietic Stem Cell Differentiation. 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 CBFA2T3 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). Reduces the protein levels and stability of the transcriptinal regulator HIF1A; interacts with EGLN1 and promotes the HIF1A prolyl hydroxylation-dependent ubiquitination and proteasomal degradation pathway (PubMed:25974097). Contributes to inhibition of glycolysis and stimulation of mitochondrial respiration by down-regulating the expression of glycolytic genes including PFKFB3, PFKFB4, PDK1, PFKP, LDHA and HK1 which are direct targets of HIF1A (PubMed:23840896, PubMed:25974097). Regulates the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes (By similarity). Plays a role in granulocyte differentiation (PubMed:15231665).

  • Isoform 2 functions as an A-kinase-anchoring protein (PubMed:11823486).

Gene Wiki entry for CBFA2T3 Gene

Additional gene information for CBFA2T3 Gene

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

Genomics for CBFA2T3 Gene

Regulatory Elements for CBFA2T3 Gene

Enhancers for CBFA2T3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H088920 1.8 FANTOM5 Ensembl ENCODE dbSUPER 16 +52.4 52356 8 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZBTB7B GLIS2 ZNF143 ANKRD11 CBFA2T3 APRT SNORD68 ZC3H18 ACSF3 RPL13 LOC100129697 CDK10 LOC105371409
GH16H088967 1.9 FANTOM5 Ensembl ENCODE dbSUPER 9.8 +3.7 3716 12 HDGF PKNOX1 ARNT SIN3A YBX1 ZNF766 CBX5 ZNF143 ZNF207 FOS ACSF3 PABPN1L LOC100129697 SNORD68 APRT ANKRD11 RPL13 ZNF778 ZC3H18 LOC101927863
GH16H089095 1.3 ENCODE dbSUPER 12.2 -122.4 -122411 8 PKNOX1 ATF1 ARNT SIN3A TCF12 ZNF121 ZNF766 CBX5 GATA2 ATF7 ACSF3 CDK10 CBFA2T3 LOC100129697 LINC02138 CDH15 PABPN1L SLC22A31 ENSG00000260279 PIR52081
GH16H088493 1.4 FANTOM5 ENCODE dbSUPER 10.8 +482.6 482550 2 HDAC1 HDGF PKNOX1 ATF1 PTBP1 RB1 RAD21 EGR1 SMARCA5 ZBTB2 CBFA2T3 LOC100128882 ZFPM1 PIEZO1 MIR5189
GH16H088879 1.2 Ensembl ENCODE 12.1 +96.3 96337 3 HNRNPUL1 HDGF ZFP64 ZSCAN4 SIN3A KLF17 ZNF2 ZBTB7B RARA EGR1 GALNS SNORD68 TRAPPC2L RPL13 ANKRD11 LOC100129697 ZC3H18 CBFA2T3 BANP LOC101927793
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CBFA2T3 on UCSC Golden Path with GeneCards custom track

Genomic Location for CBFA2T3 Gene

Chromosome:
16
Start:
88,874,855 bp from pter
End:
88,977,204 bp from pter
Size:
102,350 bases
Orientation:
Minus strand

Genomic View for CBFA2T3 Gene

Genes around CBFA2T3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CBFA2T3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CBFA2T3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CBFA2T3 Gene

Proteins for CBFA2T3 Gene

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

    Protein Symbol:
    O75081-MTG16_HUMAN
    Recommended name:
    Protein CBFA2T3
    Protein Accession:
    O75081
    Secondary Accessions:
    • D3DX78
    • O60615
    • O60616
    • O60617
    • O75082
    • O75107
    • O75108
    • Q0P5Z6
    • Q6P5W6

    Protein attributes for CBFA2T3 Gene

    Size:
    653 amino acids
    Molecular mass:
    71192 Da
    Quaternary structure:
    • Homooligomer. Homotetramerization is mediated by nervy homology region 2 (NRH2) (By similarity). Can interact with RUNX1T1 and CBFA2T2; heterotetramerization between members of the CBFA2T family is proposed (PubMed:12242670). Component of a TAL-1 complex composed at least of CBFA2T3, LDB1, TAL1 and TCF3 (By similarity). 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. Interacts with ZBTB4, ZBTB38 and ZBTB33. Interacts with HIF1A and EGLN1. Interacts with the AML1-MTG8/ETO fusion protein.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for CBFA2T3 Gene

Post-translational modifications for CBFA2T3 Gene

  • Ubiquitination at posLast=535535
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for CBFA2T3

No data available for DME Specific Peptides for CBFA2T3 Gene

Domains & Families for CBFA2T3 Gene

Gene Families for CBFA2T3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CBFA2T3 Gene

Suggested Antigen Peptide Sequences for CBFA2T3 Gene

Graphical View of Domain Structure for InterPro Entry

O75081

UniProtKB/Swiss-Prot:

MTG16_HUMAN :
  • Nervy homology region 2 (NHR2) mediates homo- and possibly heterotypic oligomerization by forming a four-helix bundle tetrameric structure.
  • Belongs to the CBFA2T family.
Domain:
  • Nervy homology region 2 (NHR2) mediates homo- and possibly heterotypic oligomerization by forming a four-helix bundle tetrameric structure.
Family:
  • Belongs to the CBFA2T family.
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:
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). Reduces the protein levels and stability of the transcriptinal regulator HIF1A; interacts with EGLN1 and promotes the HIF1A prolyl hydroxylation-dependent ubiquitination and proteasomal degradation pathway (PubMed:25974097). Contributes to inhibition of glycolysis and stimulation of mitochondrial respiration by down-regulating the expression of glycolytic genes including PFKFB3, PFKFB4, PDK1, PFKP, LDHA and HK1 which are direct targets of HIF1A (PubMed:23840896, PubMed:25974097). Regulates the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes (By similarity). Plays a role in granulocyte differentiation (PubMed:15231665).
UniProtKB/Swiss-Prot Function:
Isoform 2 functions as an A-kinase-anchoring protein (PubMed:11823486).
UniProtKB/Swiss-Prot Induction:
Down-regulated by all-trans retinoic acid (ATRA).

Phenotypes From GWAS Catalog for CBFA2T3 Gene

Gene Ontology (GO) - Molecular Function for CBFA2T3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0003714 transcription corepressor activity TAS,IEA 23251453
GO:0005515 protein binding IPI 16966434
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CBFA2T3: view
genes like me logo Genes that share phenotypes with CBFA2T3: view

Animal Models for CBFA2T3 Gene

MGI Knock Outs for CBFA2T3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CBFA2T3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CBFA2T3 gene
Compartment Confidence
nucleus 5
golgi apparatus 3
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CBFA2T3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005634 nucleus IBA --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IEA --
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with CBFA2T3: view

Pathways & Interactions for CBFA2T3 Gene

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

Pathways by source for CBFA2T3 Gene

2 BioSystems pathways for CBFA2T3 Gene

Gene Ontology (GO) - Biological Process for CBFA2T3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IDA 23840896
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0008283 cell proliferation TAS 9447981
GO:0008285 negative regulation of cell proliferation IDA 23840896
genes like me logo Genes that share ontologies with CBFA2T3: view

No data available for SIGNOR curated interactions for CBFA2T3 Gene

Drugs & Compounds for CBFA2T3 Gene

(1) Additional Compounds for CBFA2T3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CBFA2T3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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: -
SP4:
SP5: -
SP6:

Relevant External Links for CBFA2T3 Gene

GeneLoc Exon Structure for
CBFA2T3
ECgene alternative splicing isoforms for
CBFA2T3

Expression for CBFA2T3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x4.6) and Brain - Cerebellar Hemisphere (x4.3).

Protein differential expression in normal tissues from HIPED for CBFA2T3 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (50.1), Monocytes (11.9), and Gallbladder (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CBFA2T3 Gene



Protein tissue co-expression partners for CBFA2T3 Gene

NURSA nuclear receptor signaling pathways regulating expression of CBFA2T3 Gene:

CBFA2T3

SOURCE GeneReport for Unigene cluster for CBFA2T3 Gene:

Hs.513811

mRNA Expression by UniProt/SwissProt for CBFA2T3 Gene:

O75081-MTG16_HUMAN
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).

Evidence on tissue expression from TISSUES for CBFA2T3 Gene

  • Pancreas(4.2)
  • Nervous system(4.2)
  • Liver(4.1)
  • Lung(4.1)
genes like me logo Genes that share expression patterns with CBFA2T3: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CBFA2T3 Gene

Orthologs for CBFA2T3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CBFA2T3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CBFA2T3 33 34
  • 92.98 (n)
dog
(Canis familiaris)
Mammalia CBFA2T3 33 34
  • 87.12 (n)
cow
(Bos Taurus)
Mammalia CBFA2T3 33 34
  • 86.11 (n)
rat
(Rattus norvegicus)
Mammalia Cbfa2t3 33
  • 84.72 (n)
mouse
(Mus musculus)
Mammalia Cbfa2t3 33 16 34
  • 84.35 (n)
oppossum
(Monodelphis domestica)
Mammalia CBFA2T3 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CBFA2T3 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves CBFA2T3 33 34
  • 82.33 (n)
lizard
(Anolis carolinensis)
Reptilia CBFA2T3 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cbfa2t3 33
  • 71.46 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC563252 33
  • 74.24 (n)
CBFA2T3 34
  • 72 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9080 33
fruit fly
(Drosophila melanogaster)
Insecta nvy 33 34
  • 50.48 (n)
Species where no ortholog for CBFA2T3 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for CBFA2T3 (if available)
TreeFam:
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
rs553618592 A colorectal cancer sample 88,879,331(+) GCTTC(A/G)CCTCG downstream-variant-500B, reference, missense
rs745972870 A colorectal cancer sample 88,885,246(+) GGTCG(C/T)GGTCT intron-variant, nc-transcript-variant, reference, missense
rs774310781 A colorectal cancer sample 88,879,380(+) GAGCT(C/T)GTGCG downstream-variant-500B, reference, missense
rs1000007589 -- 88,945,147(+) TGGCT(A/G)ATGGA intron-variant
rs1000010322 -- 88,944,171(+) TCTCT(A/T)CTAAA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv3065n100 CNV gain 25217958
dgv37n68 CNV loss 17160897
dgv507n67 CNV gain 20364138
esv1007500 CNV deletion 20482838
esv1019051 CNV deletion 17803354
esv1211270 CNV deletion 17803354
esv1293084 CNV deletion 17803354
esv1414625 CNV insertion 17803354
esv1433786 CNV deletion 17803354
esv1437918 CNV deletion 17803354
esv1446888 CNV insertion 17803354
esv2036557 CNV deletion 18987734
esv2078105 CNV deletion 18987734
esv2458116 CNV deletion 19546169
esv2658652 CNV deletion 23128226
esv2715067 CNV deletion 23290073
esv2715068 CNV deletion 23290073
esv2715069 CNV deletion 23290073
esv2715070 CNV deletion 23290073
esv2715071 CNV deletion 23290073
esv2715072 CNV deletion 23290073
esv2715073 CNV deletion 23290073
esv2715075 CNV deletion 23290073
esv2715076 CNV deletion 23290073
esv2715077 CNV deletion 23290073
esv2715078 CNV deletion 23290073
esv28032 CNV loss 19812545
esv28973 CNV gain+loss 19812545
esv3182679 CNV deletion 24192839
esv3348326 CNV duplication 20981092
esv3432004 CNV duplication 20981092
esv3553885 CNV deletion 23714750
esv3639555 CNV gain 21293372
esv3639561 CNV gain 21293372
esv3639564 CNV loss 21293372
esv4753 CNV loss 18987735
esv989499 CNV deletion 20482838
esv998118 CNV deletion 20482838
nsv103408 CNV insertion 16902084
nsv103763 CNV deletion 16902084
nsv1061256 CNV gain 25217958
nsv1063024 CNV gain 25217958
nsv1066077 CNV gain 25217958
nsv1071313 CNV deletion 25765185
nsv1113833 CNV deletion 24896259
nsv1142208 CNV tandem duplication 24896259
nsv1144780 CNV deletion 24896259
nsv1928 CNV insertion 18451855
nsv471115 CNV loss 18288195
nsv473645 CNV novel sequence insertion 20440878
nsv482951 CNV loss 15286789
nsv512453 CNV loss 21212237
nsv521217 CNV loss 19592680
nsv573674 CNV gain 21841781
nsv573719 CNV loss 21841781
nsv573720 CNV gain 21841781
nsv827839 CNV gain 20364138
nsv827840 CNV gain 20364138
nsv952071 CNV deletion 24416366

Variation tolerance for CBFA2T3 Gene

Residual Variation Intolerance Score: 88% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.94; 59.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CBFA2T3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CBFA2T3

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

Disorders for CBFA2T3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CBFA2T3 Gene - From: Orphanet and DISEASES

Disorder Aliases PubMed IDs
acute megakaryoblastic leukemia without down syndrome
  • non-ds-amkl
leukemia, acute myeloid
  • leukemia, acute myeloid, somatic
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MTG16_HUMAN
  • 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. {ECO:0000269 PubMed:10995019, ECO:0000269 PubMed:11224496, ECO:0000269 PubMed:9596646}.

Relevant External Links for CBFA2T3

Genetic Association Database (GAD)
CBFA2T3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CBFA2T3
genes like me logo Genes that share disorders with CBFA2T3: view

No data available for Genatlas for CBFA2T3 Gene

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 22 60
  2. AML1-ETO decreases ETO-2 (MTG16) interactions with nuclear receptor corepressor, an effect that impairs granulocyte differentiation. (PMID: 15231665) Ibañez V … Saunthararajah Y (Cancer research 2004) 3 4 22 60
  3. The transcriptional corepressor MTG16a contains a novel nucleolar targeting sequence deranged in t (16; 21)-positive myeloid malignancies. (PMID: 12242670) Hoogeveen AT … Sacchi N (Oncogene 2002) 3 4 22 60
  4. 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 DF (Cancer research 2002) 3 4 22 60
  5. 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 22 60

Products for CBFA2T3 Gene

Sources for CBFA2T3 Gene

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