Aliases for CBFA2T2 Gene
Aliases for CBFA2T2 Gene
External Ids for CBFA2T2 Gene
- HGNC: 1536
- Entrez Gene: 9139
- Ensembl: ENSG00000078699
- OMIM: 603672
- UniProtKB: O43439
Previous GeneCards Identifiers for CBFA2T2 Gene
- GC20P031908
- GC20P032818
- GC20P032865
- GC20P031476
- GC20P032077
- GC20P028864
Summaries 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). Via association with PRDM14 is involved in regulation of embryonic stem cell (ESC) pluripotency (PubMed:27281218). Involved in primordial germ cell (PCG) formation. Stabilizes PRDM14 and OCT4 on chromatin in a homooligomerization-dependent manner (By similarity). 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 (AML1-MTG8/ETO fusion protein) 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. Through heteromerization with CBFA2T3/MTG16 may be involved in regulation of the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes (By similarity). Required for the maintenance of the secretory cell lineage in the small intestine. Can inhibit Notch signaling probably by association with RBPJ and may be involved in GFI1-mediated Paneth cell differentiation (By similarity).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CBFA2T2 Gene
Genomics for CBFA2T2 Gene
Regulatory Elements for CBFA2T2 Gene
Enhancers for CBFA2T2 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around CBFA2T2 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the CBFA2T2 gene promoter:
Regulatory Element Products
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:
-
- 20q11.21 by Ensembl
- 20q11.21-q11.22 by Entrez Gene
- 20q11.21-q11.22 by HGNC
CBFA2T2 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 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
- 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. Homotetramerization is mediated by nervy homology region 2 (By similarity). Can interact with RUNX1T1/CBFA2T1 and CBFA2T3/MTG16; heterotetramerization between members of the CBFA2T family is proposed (PubMed:12242670, PubMed:14703694, PubMed:16616331). Forms a heterooligomer with the AML1-MTG8/ETO fusion protein (PubMed:9447981). Interacts with PRDM14 (PubMed:27281218). Interacts with RBPJ, GFI1, TCF4. Interacts with TAL1 and CBFA2T3/MTG16; the heteromer with CBFA2T3/MTG16 may function in repression of TAL1 (By similarity).
- SequenceCaution:
-
- Sequence=AAC19378.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AK307887; Type=Frameshift; Positions=438; Evidence={ECO:0000305};
Protein Expression for CBFA2T2 Gene
Post-translational modifications for CBFA2T2 Gene
Other Protein References for CBFA2T2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CBFA2T2
- Novus Biologicals Antibodies for CBFA2T2
- Invitrogen Antibodies for CBFA2T2
- antibodies-online Antibodies for CBFA2T2: See all 79
- GeneTex CBFA2T2 antibody for CBFA2T2
-
Santa Cruz Biotechnology (SCBT) Antibodies for CBFA2T2
Protein Products
-
OriGene Purified Proteins for CBFA2T2
- Search Origene for MassSpec and Protein Over-expression Lysates for CBFA2T2
- Origene Custom Protein Services for CBFA2T2
- antibodies-online Proteins for CBFA2T2: See all 6
- Search antibodies-online for peptides
- Search GeneTex for Proteins for CBFA2T2
Assay 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
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for CBFA2T2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O43439UniProtKB/Swiss-Prot:
MTG8R_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 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). Via association with PRDM14 is involved in regulation of embryonic stem cell (ESC) pluripotency (PubMed:27281218). Involved in primordial germ cell (PCG) formation. Stabilizes PRDM14 and OCT4 on chromatin in a homooligomerization-dependent manner (By similarity). 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 (AML1-MTG8/ETO fusion protein) 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. Through heteromerization with CBFA2T3/MTG16 may be involved in regulation of the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes (By similarity). Required for the maintenance of the secretory cell lineage in the small intestine. Can inhibit Notch signaling probably by association with RBPJ and may be involved in GFI1-mediated Paneth cell differentiation (By similarity).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003700 | transcription factor activity, sequence-specific DNA binding | IEA | -- |
| GO:0003714 | transcription corepressor activity | TAS | 23251453 |
| GO:0005515 | protein binding | IPI | 16189514 |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for CBFA2T2 Gene
- MGI mutant phenotypes for CBFA2T2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for CBFA2T2:
-
- Increased viability
- Decreased hepcidin::fluc mRNA expression
- shRNA abundance <= 50%
- Decreased viability in esophageal squamous lineage
- Dynamic nuclei (hole, folded or small irregular)
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Effect on mitosis
- Decreased Aire reporter expression
- Synthetic lethal with vaccinia virus (VACV) infection
- Decreased caspase 3/7 activity
Animal Models for CBFA2T2 Gene
- MGI Knock Outs for CBFA2T2:
-
- Cbfa2t2 tm1Swh
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CBFA2T2
-
-
ViGene Biosciences lentiviral particle packaged cDNA for CBFA2T2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CBFA2T2 gene
- Search ViGene Biosciences for CBFA2T2
CRISPR Products
-
OriGene CRISPR knockouts for CBFA2T2
-
Santa Cruz Biotechnology (SCBT) CRISPR for CBFA2T2
- GenScript: Design CRISPR guide RNA sequences for CBFA2T2
miRNA for CBFA2T2 Gene
- miRTarBase miRNAs that target CBFA2T2
-
- hsa-mir-101-3p (MIRT027387)
- hsa-mir-106b-5p (MIRT044277)
- hsa-mir-92a-3p (MIRT049423)
- hsa-mir-7977 (MIRT634781)
- hsa-mir-7160-5p (MIRT634782)
- hsa-mir-5690 (MIRT634783)
- hsa-mir-4478 (MIRT634784)
- hsa-mir-4419b (MIRT634785)
- hsa-mir-3929 (MIRT634786)
- hsa-mir-510-5p (MIRT634787)
- hsa-mir-512-5p (MIRT634788)
miRNA Products
- Search ViGene Biosciences for CBFA2T2
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CBFA2T2
- Browse OriGene Inhibitory RNA Products For CBFA2T2
-
ViGene Biosciences ready-to-package AAV shRNAs for CBFA2T2 gene
Clone Products
- Sino Biological Human cDNA Clone for CBFA2T2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CBFA2T2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CBFA2T2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for CBFA2T2
-
ViGene Biosciences adenoviral particle packaged cDNA for CBFA2T2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CBFA2T2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CBFA2T2 gene
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
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,IDA | 19026687 |
Pathways & Interactions for CBFA2T2 Gene
No Data Available
Interacting Proteins for CBFA2T2 Gene
Selected Interacting proteins:
O43439-MTG8R_HUMAN
ENSP00000262653
for CBFA2T2 Gene via
IID
UniProtKB
STRING
MINT
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription from RNA polymerase II promoter | IEA | -- |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0010976 | positive regulation of neuron projection development | IDA | 19026687 |
| GO:0010977 | negative regulation of neuron projection development | ISS | -- |
No data available for Pathways by source and SIGNOR curated interactions for CBFA2T2 Gene
Transcripts for CBFA2T2 Gene
mRNA/cDNA for CBFA2T2 Gene
- (13) REFSEQ mRNAs :
- (15) Additional mRNA sequences :
- (287) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CBFA2T2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CBFA2T2
-
Santa Cruz Biotechnology (SCBT) CRISPR for CBFA2T2
- GenScript: Design CRISPR guide RNA sequences for CBFA2T2
miRNA Products
- Search ViGene Biosciences for CBFA2T2
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CBFA2T2
- Browse OriGene Inhibitory RNA Products For CBFA2T2
-
ViGene Biosciences ready-to-package AAV shRNAs for CBFA2T2 gene
Clone Products
- Sino Biological Human cDNA Clone for CBFA2T2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CBFA2T2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CBFA2T2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| 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: |
Expression 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, MaxQB, and MOPED for CBFA2T2 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of CBFA2T2 Gene:
CBFA2T2SOURCE GeneReport for Unigene cluster for CBFA2T2 Gene:
Hs.153934mRNA 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.
Evidence on tissue expression from TISSUES for CBFA2T2 Gene
- Nervous system(4.8)
- Eye(4.2)
- Liver(4.1)
- Lung(2.4)
Primer Products
-
OriGene qPCR primer pairs for CBFA2T2
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CBFA2T2 Gene
Orthologs for CBFA2T2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CBFA2T2 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | CBFA2T2 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | CBFA2T2 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Cbfa2t2 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cbfa2t2 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | CBFA2T2 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | CBFA2T2 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CBFA2T2 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | CBFA2T2 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cbfa2t2 34 |
|
||
| Str.4001 34 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | cbfa2t2 35 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010867 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | nvy 35 |
|
OneToMany |
- Species where no ortholog for CBFA2T2 was found in the sources mined by GeneCards:
-
- 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)
Paralogs for CBFA2T2 Gene
(5) SIMAP similar genes for CBFA2T2 Gene using alignment to 2 proteins:
Variants for CBFA2T2 Gene
| SNP ID | Clin | Chr 20 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000005213 | -- | 33,606,488(+) | TCCTT(C/T)CCGGG | intron-variant, upstream-variant-2KB | |
| rs1000010370 | -- | 33,505,396(+) | ATGTT(A/C)CCTCA | intron-variant | |
| rs1000014598 | -- | 33,571,976(+) | ACCTC(C/T)GCCTC | intron-variant | |
| rs1000029626 | -- | 33,640,215(+) | GATCA(C/T)GTGTT | intron-variant | |
| rs1000040888 | -- | 33,549,813(+) | CCAAG(C/T)ACAGC | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv4302n100 | CNV | loss | 25217958 |
| esv24338 | CNV | loss | 19812545 |
| esv2660082 | CNV | deletion | 23128226 |
| esv2672530 | CNV | deletion | 23128226 |
| esv2722353 | CNV | deletion | 23290073 |
| esv3645685 | CNV | loss | 21293372 |
| nsv1064413 | CNV | gain | 25217958 |
| nsv1065189 | CNV | loss | 25217958 |
| nsv1127833 | CNV | deletion | 24896259 |
| nsv1131585 | CNV | deletion | 24896259 |
| nsv1136537 | CNV | deletion | 24896259 |
| nsv522690 | CNV | loss | 19592680 |
| nsv833960 | CNV | loss | 17160897 |
| nsv833961 | CNV | loss | 17160897 |
| nsv954024 | CNV | deletion | 24416366 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CBFA2T2 Gene
Disorders for CBFA2T2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myeloid leukemia |
|
|
| leukemia, acute myeloid |
|
|
Search CBFA2T2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
MTG8R_HUMAN- Note=A chromosomal aberration involving CBFA2T2 is found in acute myeloid leukemia. Translocation t(20;21)(q11;q22) with RUNX1/AML1. {ECO:0000269 PubMed:20520637}.
- Note=A chromosomal aberration involving CBFA2T2 is found in childhood precursor B-cell acute lymphoblastic leukemia (pre-B ALL). Translocation t(9;20)(p13;q11) with PAX5. {ECO:0000269 PubMed:26115422}.
Relevant External Links for CBFA2T2
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- CBFA2T2
No data available for Genatlas for CBFA2T2 Gene
Publications for CBFA2T2 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 22 64
- Interactions between the leukaemia-associated ETO homologues of nuclear repressor proteins. (PMID: 14703694) Lindberg S.R. … Olsson I. (Eur. J. Haematol. 2003) 3 4 22 64
- Structure and expression pattern of a human MTG8/ETO family gene, MTGR1. (PMID: 10675041) Morohoshi F. … Ohki M. (Gene 2000) 3 4 22 64
- 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 22 64
- Co-repressor CBFA2T2 regulates pluripotency and germline development. (PMID: 27281218) Tu S. … Reinberg D. (Nature 2016) 3 4 64
Products for CBFA2T2 Gene
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- Custom Antibody ServicesOriGene Antibodies for CBFA2T2
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- GenScript: Next-day shipping cDNA ORF clone for CBFA2T2 in any vector
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- GenScript Custom overexpressing Cell Line Services for CBFA2T2
- GenScript: Design CRISPR guide RNA sequences for CBFA2T2
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- CloneReady with Over 120,000 Genes
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- Gene Mutant Library, Variants up to 10^11
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- Sino Biological Human cDNA Clone for CBFA2T2
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- Novus Biologicals Antibodies for CBFA2T2
- Novus Biologicals proteins and lysates for CBFA2T2
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- antibodies-online Antibodies for CBFA2T2: See all 79
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- antibodies-online Proteins for CBFA2T2: See all 6
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- GeneTex CBFA2T2 antibody for CBFA2T2
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- ViGene Biosciences adenoviral particle packaged cDNA for CBFA2T2 gene
- ViGene Biosciences lentiviral particle packaged cDNA for CBFA2T2 gene
- ViGene Biosciences ready-to-package AAV shRNAs for CBFA2T2 gene
- Search ViGene Biosciences for CBFA2T2
- Santa Cruz Biotechnology (SCBT) Antibodies for CBFA2T2
- Search Santa Cruz Biotechnology (SCBT) for CBFA2T2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CBFA2T2
- Horizon Cell Lines for CBFA2T2
- Cyagen custom Knockout/knockin (KOKI) mouse models for CBFA2T2
- VectorBuilder custom plasmid, inducible vectors for CBFA2T2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CBFA2T2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for CBFA2T2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
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- (136) ViGene Biosciences
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- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer