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

Gene ID: 9139, updated on 2-Nov-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
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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

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

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)

Genotypes

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

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