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    CBFA2T2 CBFA2/RUNX1 partner transcriptional co-repressor 2 [ Homo sapiens (human) ]

    Gene ID: 9139, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CBFA2T2provided by HGNC
    Official Full Name
    CBFA2/RUNX1 partner transcriptional co-repressor 2provided by HGNC
    Primary source
    HGNC:HGNC:1536
    See related
    Ensembl:ENSG00000078699 MIM:603672; AllianceGenome:HGNC:1536
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EHT; p85; MTGR1; ZMYND3
    Summary
    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]
    Expression
    Ubiquitous expression in prostate (RPKM 6.7), testis (RPKM 4.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CBFA2T2 in Genome Data Viewer
    Location:
    20q11.21-q11.22
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (33490096..33650030)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (35216640..35376563)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (32077902..32237836)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene CDK5 regulatory subunit associated protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17729 Neighboring gene uncharacterized LOC124904889 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17730 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:32006871-32007371 Neighboring gene VISTA enhancer hs2173 Neighboring gene syntrophin alpha 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17731 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:32027926-32028104 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12811 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12812 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:32032043-32032543 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17734 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:32064897-32065812 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:32077069-32077617 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12813 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12814 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:32104950-32105714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:32115920-32116420 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:32116421-32116921 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:32118677-32119177 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:32121705-32122204 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:32124101-32124819 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17735 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:32144891-32145546 Neighboring gene Sharpr-MPRA regulatory region 10659 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:32156001-32156927 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:32169053-32169552 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:32169790-32170374 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:32170375-32170958 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:32175233-32175732 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12815 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:32240942-32241530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:32244101-32244601 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:32250716-32251654 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:32251655-32252591 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17738 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12817 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17739 Neighboring gene chromosome 20 open reading frame 144 Neighboring gene N-terminal EF-hand calcium binding protein 3 Neighboring gene actin like 10

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. EHT, a new member of the MTG8/ETO gene family, maps on 20q11 region and is deleted in acute myeloid leukemias. Fracchiolla NS, et al. Blood, 1998 Nov 1. PMID 9787195
    2. The leukemia associated nuclear corepressor ETO homologue genes MTG16 and MTGR1 are regulated differently in hematopoietic cells. Ajore R, et al. BMC Mol Biol, 2012 Mar 23. PMID 22443175, Free PMC Article
    3. CBFA2T2 and C20orf112: two novel fusion partners of RUNX1 in acute myeloid leukemia. Guastadisegni MC, et al. Leukemia, 2010 Aug. PMID 20520637
    4. Structure and expression pattern of a human MTG8/ETO family gene, MTGR1. Morohoshi F, et al. Gene, 2000 Jan 11. PMID 10675041
    5. The AML1-MTG8 leukemic fusion protein forms a complex with a novel member of the MTG8(ETO/CDR) family, MTGR1. Kitabayashi I, et al. Mol Cell Biol, 1998 Feb. PMID 9447981, Free PMC Article

    See all (45) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CBFA2T2 promotes adipogenic differentiation of mesenchymal stem cells by regulating CEBPA.
      Title: CBFA2T2 promotes adipogenic differentiation of mesenchymal stem cells by regulating CEBPA.
    2. in human colorectal cancer (CRC) samples MTGR1 was downregulated at both the transcript and protein level. Overall data indicates that MTGR1 has a context-dependent effect on intestinal tumorigenesis.
      Title: Myeloid translocation genes differentially regulate colorectal cancer programs.
    3. CBFA2T2 forms a biochemical complex with PRDM14, a germline-specific transcription factor; mechanistically, CBFA2T2 oligomerizes to form a scaffold upon which PRDM14 and OCT4 are stabilized on chromatin
      Title: Co-repressor CBFA2T2 regulates pluripotency and germline development.
    4. The MTGR1 gene depends on a GC-box-rich sequence for transcriptional regulation and possible ubiquitous expression.
      Title: The leukemia associated nuclear corepressor ETO homologue genes MTG16 and MTGR1 are regulated differently in hematopoietic cells.
    5. report characterization of two chimeric transcripts identified in AML translocation cases involving CBFA2T2 and C20orf112
      Title: CBFA2T2 and C20orf112: two novel fusion partners of RUNX1 in acute myeloid leukemia.
    6. These results reveal novel contributions of MTGR1 and GFI1 to the regulation of neurite outgrowth and identify novel repressors of integrin-dependent neurite outgrowth.
      Title: Loss of function genetic screens reveal MTGR1 as an intracellular repressor of beta1 integrin-dependent neurite outgrowth.
    7. ETO family member-mediated oligomerization and repression can be distinct events and that interaction between ETO family members and hSIN3B or N-CoR may not necessarily strengthen transcriptional repression.
      Title: Transcriptional repression by leukaemia-associated ETO family members can be independent of oligomerization and coexpressed hSIN3B and N-CoR.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp313F2116

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription corepressor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription corepressor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription corepressor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intestinal epithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of neuron projection development IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein CBFA2T2
    Names
    CBFA2/RUNX1 translocation partner 2
    ETO homolog on chromosome 20
    ETO homologous on chromosome 20
    MTG8-like protein
    MTG8-related protein 1
    core-binding factor, runt domain, alpha subunit 2; translocated to, 2
    myeloid translocation gene-related protein 1
    myeloid translocation-related protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001032999.3 → NP_001028171.1  protein CBFA2T2 isoform MTGR1c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding region compared to variant 2. The resulting isoform (MTGR1c) has a shorter and distinct N-terminus compared to isoform MTGR1b.
      Source sequence(s)
      AL121906, AL162505, BC016298, CB998035
      Consensus CDS
      CCDS46590.1
      UniProtKB/Swiss-Prot
      O43439
      Related
      ENSP00000345810.6, ENST00000342704.11
      Conserved Domains (4) summary
      pfam01753
      Location:498 → 534
      zf-MYND; MYND finger
      pfam03763
      Location:430 → 481
      Remorin_C; Remorin, C-terminal region
      pfam07531
      Location:106 → 192
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:322 → 388
      NHR2; NHR2 domain like

    2. NM_001039709.2 → NP_001034798.1  protein CBFA2T2 isoform MTGR1a

      See identical proteins and their annotated locations for NP_001034798.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate exon compared to variant 2. The resulting isoform (MTGR1a) is shorter at the N-terminus compared to isoform MTGR1b.
      Source sequence(s)
      AF069747, AL034421, AL121906, CN347014
      UniProtKB/Swiss-Prot
      O43439
      Related
      ENSP00000380902.1, ENST00000397800.5
      Conserved Domains (4) summary
      pfam01753
      Location:478 → 514
      zf-MYND; MYND finger
      pfam03763
      Location:410 → 461
      Remorin_C; Remorin, C-terminal region
      pfam07531
      Location:86 → 172
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:302 → 368
      NHR2; NHR2 domain like

    3. NM_005093.4 → NP_005084.1  protein CBFA2T2 isoform MTGR1b

      See identical proteins and their annotated locations for NP_005084.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (MTGR1b).
      Source sequence(s)
      AF069747, AL034421, AL121906, CN347014
      Consensus CDS
      CCDS13221.1
      UniProtKB/Swiss-Prot
      B2RAE6, F8W6D7, O43439, Q5TGE4, Q5TGE5, Q5TGE6, Q5TGE7, Q8IWF3, Q96B06, Q96L00, Q9H436, Q9UJP8, Q9UJP9, Q9UP24
      Related
      ENSP00000262653.7, ENST00000346541.7
      Conserved Domains (4) summary
      pfam01753
      Location:507 → 543
      zf-MYND; MYND finger
      pfam03763
      Location:439 → 490
      Remorin_C; Remorin, C-terminal region
      pfam07531
      Location:115 → 201
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:331 → 397
      NHR2; NHR2 domain like

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      33490096..33650030
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      35216640..35376563
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_175864.1: Suppressed sequence

      Description
      NM_175864.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43439.1 GenPept UniProtKB/Swiss-Prot:O43439

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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