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Aliases for CBFA2T3 Gene

Aliases for CBFA2T3 Gene

  • CBFA2/RUNX1 Translocation Partner 3 2 3
  • 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
  • Core-Binding Factor, Runt Domain, Alpha Subunit 2 Translocated To, 3 5
  • MTG8-Related Gene 2 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 ErbB4 signaling events. 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

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

Genomics for CBFA2T3 Gene

Regulatory Elements for CBFA2T3 Gene

Promoters for CBFA2T3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs 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:
    • 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. Interacts with ZBTB4, ZBTB38 and ZBTB33. Interacts with HIF1A and EGLN1.
    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

Proteomics data for CBFA2T3 Gene at MOPED

Post-translational modifications for CBFA2T3 Gene

  • Ubiquitination at Lys 535
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for CBFA2T3 Gene

Domains & Families for CBFA2T3 Gene

Gene Families for CBFA2T3 Gene

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 :
  • 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 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).
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for CBFA2T3 Gene COMPARTMENTS Subcellular localization image for CBFA2T3 gene
Compartment Confidence
nucleus 5
golgi apparatus 3
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:0005654 nucleoplasm IEA --
genes like me logo Genes that share ontologies with CBFA2T3: view

Pathways & Interactions 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:0001666 response to hypoxia IDA 23840896
GO:0008283 cell proliferation TAS 9447981
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process IMP 25974097
GO:0045820 negative regulation of glycolytic process IDA 23840896
GO:1903715 regulation of aerobic respiration 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:

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 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, MOPED, and MaxQB for CBFA2T3 Gene



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).
genes like me logo Genes that share expression patterns with CBFA2T3: view

Protein tissue co-expression partners for CBFA2T3 Gene

Primer Products

In Situ Assay Products

Orthologs for CBFA2T3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CBFA2T3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CBFA2T3 35
  • 86.11 (n)
  • 87.8 (a)
CBFA2T3 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CBFA2T3 35
  • 87.12 (n)
  • 88.8 (a)
CBFA2T3 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cbfa2t3 35
  • 84.35 (n)
  • 90.17 (a)
Cbfa2t3 16
Cbfa2t3 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CBFA2T3 35
  • 92.98 (n)
  • 92.37 (a)
CBFA2T3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cbfa2t3 35
  • 84.72 (n)
  • 89.11 (a)
oppossum
(Monodelphis domestica)
Mammalia CBFA2T3 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CBFA2T3 36
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves CBFA2T3 35
  • 82.33 (n)
  • 85.25 (a)
CBFA2T3 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CBFA2T3 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cbfa2t3 35
  • 71.46 (n)
  • 78.83 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC563252 35
  • 74.24 (n)
  • 81.36 (a)
CBFA2T3 36
  • 72 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9080 35
fruit fly
(Drosophila melanogaster)
Insecta nvy 35
  • 50.48 (n)
  • 40 (a)
nvy 36
  • 27 (a)
OneToMany
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

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
VAR_035374 -
VAR_035447 A colorectal cancer sample
VAR_035448 A colorectal cancer sample
VAR_035449 A colorectal cancer sample
rs710890 -- 88,876,852(-) ACCTG(A/G/T)GGGAG utr-variant-3-prime

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

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

HapMap Linkage Disequilibrium report
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 23 67
  2. Specificity and spatial dynamics of protein kinase A signaling organized by A-kinase-anchoring proteins. (PMID: 20150326) Pidoux G. … TaskAcn K. (J. Mol. Endocrinol. 2010) 2 3
  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. RUNX1-MTG16 fusion gene in acute myeloblastic leukemia with t(16;21)(q24;q22): case report and review of the literature. (PMID: 18656694) De Braekeleer E. … De Braekeleer M. (Cancer Genet. Cytogenet. 2008) 3 23
  5. Novel RNA-binding properties of the MTG chromatin regulatory proteins. (PMID: 18950503) Rossetti S. … Hoogeveen A.T. (BMC Mol. Biol. 2008) 3 23

Products for CBFA2T3 Gene

Sources for CBFA2T3 Gene

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