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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 ... See more...
Aliases for CBFA2T3 Gene
Aliases for CBFA2T3 Gene
- CBFA2/RUNX1 Partner Transcriptional Co-Repressor 3 2 3 5
- ZMYND4 2 3 4
- MTG16 2 3 4
- MTGR2 2 3 4
- 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
External Ids for CBFA2T3 Gene
- HGNC: 1537
- Entrez Gene: 863
- Ensembl: ENSG00000129993
- OMIM: 603870
- UniProtKB: O75081
Previous GeneCards Identifiers for CBFA2T3 Gene
- GC16P080276
- GC16P089937
- GC16M088644
- GC16M088685
- GC16M087468
- GC16M088941
- GC16M074638
Summaries 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 Partner Transcriptional Co-Repressor 3) is a Protein Coding gene. Diseases associated with CBFA2T3 include Acute Megakaryoblastic Leukemia Without Down Syndrome and Megakaryocytic Leukemia. Among its related pathways are Hematopoietic Stem Cell Differentiation and Signaling by ERBB4. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription corepressor activity. An important paralog of this gene is RUNX1T1.
UniProtKB/Swiss-Prot Summary 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).
Additional gene information for CBFA2T3 Gene
- HGNC(1537)
- Entrez Gene(863)
- Ensembl(ENSG00000129993)
- OMIM(603870)
- UniProtKB(O75081)
- Open Targets Platform(ENSG00000129993)
- Monarch Initiative
- Search for CBFA2T3 at DataMed
- Search for CBFA2T3 at HumanCyc
No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CBFA2T3 Gene
Genomics for CBFA2T3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CBFA2T3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CBFA2T3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CBFA2T3
- Top Transcription factor binding sites by QIAGEN in the CBFA2T3 gene promoter:
-
- CP2
- E47
- FOXF2
- HSF2
- HTF
- ITF-2
- Lmo2
- Sp1
- Tal-1
- Tal-1beta
Genomic Locations for CBFA2T3 Gene
Genomic Locations for CBFA2T3 Gene
- chr16:88,874,858-88,977,207
- (GRCh38/hg38)
- Size:
- 102,350 bases
- Orientation:
- Minus strand
- chr16:88,941,263-89,043,612
- (GRCh37/hg19)
- 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:
-
- 16q24.3 by HGNC
- 16q24.3 by Entrez Gene
- 16q24.3 by Ensembl
CBFA2T3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for CBFA2T3 Gene
Post-translational modifications for CBFA2T3 Gene
Other Protein References for CBFA2T3 Gene
Antibody Products
- Novus Biologicals Antibodies for CBFA2T3
- Invitrogen Antibodies for CBFA2T3 (AFLGC-CBFA2T3)
-
Biorbyt antibodies for CBFA2T3
-
Santa Cruz Biotechnology (SCBT) Antibodies for CBFA2T3
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for CBFA2T3
- Origene Custom Protein Services for CBFA2T3
- antibodies-online: Show 5 available CBFA2T3 Proteins ranked by validation data
- Compare Top CBFA2T3 Proteins
-
Quality Products:
-
Abcam proteins 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
- InterPro:
- Blocks:
-
- Zn-finger, MYND type
- TAF-like region
- ProtoNet:
Suggested Antigen Peptide Sequences for CBFA2T3 Gene
- GenScript: Design optimal peptide antigens:
-
- Core-binding factor, runt domain, alpha subunit 2 (D3DX76_HUMAN)
- Zinc finger MYND domain-containing protein 4 (MTG16_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O75081UniProtKB/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.
Function for CBFA2T3 Gene
Molecular function for CBFA2T3 Gene
- 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).
- 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
Phenotypes From GWAS Catalog for CBFA2T3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003700 | DNA-binding transcription factor activity | IEA | -- |
| GO:0003714 | transcription corepressor activity | IEA,TAS | 23251453 |
| GO:0005515 | protein binding | IPI | 16966434 |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for CBFA2T3 Gene
- MGI mutant phenotypes for CBFA2T3:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for CBFA2T3:
Animal Models for CBFA2T3 Gene
- MGI Knock Outs for CBFA2T3:
-
- Cbfa2t3 Cbfa2t3<tm1.1Swh>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CBFA2T3 - Select products 50% OFF >
- * CBFA2T3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CBFA2T3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CBFA2T3
-
Santa Cruz Biotechnology (SCBT) CRISPR for CBFA2T3
miRNA for CBFA2T3 Gene
- miRTarBase miRNAs that target CBFA2T3
-
- mmu-miR-15a-5p (MIRT011593)
- mmu-miR-5101 (MIRT584459)
- mmu-miR-452-5p (MIRT584461)
- mmu-miR-3065-5p (MIRT584462)
- mmu-miR-350-3p (MIRT595160)
- mmu-miR-335-3p (MIRT595161)
- hsa-miR-1273e (MIRT688796)
- hsa-miR-4709-3p (MIRT688797)
- hsa-miR-937-3p (MIRT688798)
- hsa-miR-6755-3p (MIRT688799)
- hsa-miR-15b-3p (MIRT688800)
- hsa-miR-4635 (MIRT688801)
- hsa-miR-4433a-3p (MIRT688802)
- hsa-miR-4459 (MIRT688803)
- hsa-miR-4768-3p (MIRT688804)
- hsa-miR-195-5p (MIRT728044)
- hsa-miR-16-5p (MIRT728045)
- hsa-miR-15b-5p (MIRT728046)
- hsa-miR-15a-5p (MIRT728047)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CBFA2T3
- Browse OriGene Inhibitory RNA Products For CBFA2T3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CBFA2T3
Clone Products
- Applied Biological Materials (abm): Clones for CBFA2T3 - Select products 50% OFF >
- * CBFA2T3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG219692
- MG219693
- MG224532
- MR219692
- MR219692L3
- MR219692L4
- MR219693
- MR219693L3
- MR219693L4
- MR224532
- MR224532L3
- MR224532L4
- RC212257
- RC212257L1
- RC212257L2
- RC212257L3
- RC212257L4
- RC223730
- RC223730L3
- RC223730L4
- RG212257
- RG223730
- RR208123
- RR208123L3
- RR208123L4
- MR219692L3V
- MR219692L4V
- MR219693L3V
- MR219693L4V
- MR224532L3V
- MR224532L4V
- RC212257L1V
- RC212257L2V
- RC212257L3V
- RC212257L4V
- RC223730L3V
- RC223730L4V
- RR208123L3V
- RR208123L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CBFA2T3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CBFA2T3
Cell Line Products
-
Horizon Cell Lines for CBFA2T3
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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| golgi apparatus | 3 |
| plasma membrane | 2 |
| mitochondrion | 2 |
| cytosol | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
- Nucleoplasm (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IEA | -- |
| GO:0005634 | nucleus | IBA | 21873635 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005730 | nucleolus | IEA | -- |
| GO:0005794 | Golgi apparatus | IEA | -- |
Pathways & Interactions for CBFA2T3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Signaling by ERBB4 | ||
| 2 | Hematopoietic Stem Cell Differentiation | ||
Pathways by source for CBFA2T3 Gene
2 BioSystems pathways for CBFA2T3 Gene
Interacting Proteins for CBFA2T3 Gene
Selected Interacting proteins:
O75081-MTG16_HUMAN
ENSP00000268679
for CBFA2T3 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for CBFA2T3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001666 | response to hypoxia | IDA | 23840896 |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0008285 | negative regulation of cell proliferation | IDA | 23840896 |
| GO:0030154 | cell differentiation | IEA | -- |
| GO:0030851 | granulocyte differentiation | IDA | 15231665 |
Transcripts for CBFA2T3 Gene
mRNA/cDNA for CBFA2T3 Gene
- 2 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000327483 4033 nts (view in UCSC)
- ENST00000268679 4480 nts (view in UCSC)
- ENST00000563856 2380 nts (view in UCSC)
- ENST00000563920 1815 nts (view in UCSC)
- ENST00000566868 284 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CBFA2T3 - Select products 50% OFF >
- * CBFA2T3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CBFA2T3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CBFA2T3
-
Santa Cruz Biotechnology (SCBT) CRISPR for CBFA2T3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CBFA2T3
- Browse OriGene Inhibitory RNA Products For CBFA2T3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CBFA2T3
Clone Products
- Applied Biological Materials (abm): Clones for CBFA2T3 - Select products 50% OFF >
- * CBFA2T3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG219692
- MG219693
- MG224532
- MR219692
- MR219692L3
- MR219692L4
- MR219693
- MR219693L3
- MR219693L4
- MR224532
- MR224532L3
- MR224532L4
- RC212257
- RC212257L1
- RC212257L2
- RC212257L3
- RC212257L4
- RC223730
- RC223730L3
- RC223730L4
- RG212257
- RG223730
- RR208123
- RR208123L3
- RR208123L4
- MR219692L3V
- MR219692L4V
- MR219693L3V
- MR219693L4V
- MR224532L3V
- MR224532L4V
- RC212257L1V
- RC212257L2V
- RC212257L3V
- RC212257L4V
- RC223730L3V
- RC223730L4V
- RR208123L3V
- RR208123L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CBFA2T3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CBFA2T3
| 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
Expression for CBFA2T3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Plasmacytoid Dendritic cells Peripheral Blood
- Hematopoietic Bone Marrow
-
Heart (Cardiovascular System)
- Cardiac Crescent Cells Cardiac Crescent
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).
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, MaxQB, and MOPED for CBFA2T3 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CBFA2T3
SOURCE GeneReport for Unigene cluster for CBFA2T3 Gene:
Hs.513811mRNA 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
- Nervous system(4.4)
- Lung(4.3)
- Liver(4.3)
- Pancreas(4.3)
- Blood(2.4)
- Spleen(2.3)
- Bone marrow(2.2)
- Lymph node(2.2)
Primer Products
-
OriGene qPCR primer pairs for CBFA2T3
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CBFA2T3 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CBFA2T3 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CBFA2T3 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Cbfa2t3 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Cbfa2t3 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | CBFA2T3 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CBFA2T3 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CBFA2T3 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CBFA2T3 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cbfa2t3 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC563252 30 |
|
||
| CBFA2T3 31 |
|
OneToOne | |||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9080 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | nvy 30 31 |
|
OneToMany |
- Species where no ortholog for CBFA2T3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for CBFA2T3: view image
Paralogs for CBFA2T3 Gene
(6) SIMAP similar genes for CBFA2T3 Gene using alignment to 11 proteins:
- MTG16_HUMAN
- B5MDT7_HUMAN
- D3DX76_HUMAN
- E7EU24_HUMAN
- H3BMZ0_HUMAN
- H3BNH2_HUMAN
- H3BNI7_HUMAN
- H3BR72_HUMAN
- H3BSI4_HUMAN
- H3BU07_HUMAN
- J3QRB1_HUMAN
Variants for CBFA2T3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CBFA2T3 Gene
| SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 713642 | Likely Benign: not provided | 88,881,372(-) | C/T | MISSENSE_VARIANT | |
| 716461 | Benign: not provided | 88,879,330(-) | C/T | SYNONYMOUS_VARIANT | |
| rs553618592 | A colorectal cancer sample | p.Ala534Val | |||
| rs745972870 | A colorectal cancer sample | p.Arg306His | |||
| rs774310781 | A colorectal cancer sample | p.Glu518Lys |
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)
Additional Variant Information for CBFA2T3 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- CBFA2T3
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CBFA2T3 Gene
Disorders for CBFA2T3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| acute megakaryoblastic leukemia without down syndrome |
|
|
| megakaryocytic leukemia |
|
|
| leukemia, acute myeloid |
|
|
Search CBFA2T3 in MalaCards
View complete list of genes associated with diseases
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}.
Additional Disease Information for CBFA2T3
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for CBFA2T3 Gene
Publications for CBFA2T3 Gene
- 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
- 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 23
- 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 23
- 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 23
- 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
ExternalLinks
Products for CBFA2T3 Gene
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Sources for CBFA2T3 Gene
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