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    Cbfa2t2 CBFA2/RUNX1 translocation partner 2 [ Mus musculus (house mouse) ]

    Gene ID: 12396, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Cbfa2t2provided by MGI
    Official Full Name
    CBFA2/RUNX1 translocation partner 2provided by MGI
    Primary source
    MGI:MGI:1333833
    See related
    Ensembl:ENSMUSG00000038533 AllianceGenome:MGI:1333833
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    MTGR1; Cbfa2t2h; A430091M07; C330013D05Rik
    Summary
    Enables transcription corepressor activity. Involved in intestinal epithelial cell differentiation and negative regulation of Notch signaling pathway. Acts upstream of or within epithelial cell differentiation and negative regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. Is expressed in several structures, including alimentary system; blastocyst; brain; genitourinary system; and sensory organ. Orthologous to human CBFA2T2 (CBFA2/RUNX1 partner transcriptional co-repressor 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in whole brain E14.5 (RPKM 10.6), CNS E14 (RPKM 10.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Cbfa2t2 in Genome Data Viewer
    Location:
    2 H1; 2 76.62 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (154278018..154381276)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (154436098..154539356)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_06119 Neighboring gene VISTA enhancer mm1461 Neighboring gene predicted gene, 39962 Neighboring gene STARR-seq mESC enhancer starr_06124 Neighboring gene predicted gene, 52564 Neighboring gene STARR-seq mESC enhancer starr_06127 Neighboring gene zinc finger, FYVE domain containing 21 pseudogene Neighboring gene RIKEN cDNA 1700003F12 gene 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: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. MTGR1 is required for tumorigenesis in the murine AOM/DSS colitis-associated carcinoma model. Barrett CW, et al. Cancer Res, 2011 Feb 15. PMID 21303973, Free PMC Article
    2. Deletion of Mtgr1 sensitizes the colonic epithelium to dextran sodium sulfate-induced colitis. Martinez JA, et al. Gastroenterology, 2006 Aug. PMID 16890610
    3. CBFA2T2 is required for BMP-2-induced osteogenic differentiation of mesenchymal stem cells. Huang H, et al. Biochem Biophys Res Commun, 2018 Feb 19. PMID 29378183
    4. The transcriptional corepressor MTGR1 regulates intestinal secretory lineage allocation. Parang B, et al. FASEB J, 2015 Mar. PMID 25398765, Free PMC Article
    5. ETO family protein Mtgr1 mediates Prdm14 functions in stem cell maintenance and primordial germ cell formation. Nady N, et al. Elife, 2015 Nov 2. PMID 26523391, Free PMC Article

    See all (41) 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. the co-option of the PRDM14-CBFA2T complex from motor neurons into pluripotent cells may have maintained the transcriptional network for pluripotency during vertebrate evolution.
      Title: Co-option of the PRDM14-CBFA2T complex from motor neurons to pluripotent cells during vertebrate evolution.
    3. Collectively, our findings indicate that CBFA2T2 is required for BMP-2-induced osteogenic differentiation of MSCs through inhibition of EHMT1-mediated histone methylation at Runx2 promoter.
      Title: CBFA2T2 is required for BMP-2-induced osteogenic differentiation of mesenchymal stem cells.
    4. This repressive function is mediated through an ETO-family co-repressor Mtgr1, which tightly binds to the pre-SET/SET domains of Prdm14 and co-occupies its genomic targets in mouse embryonic stem cells.
      Title: ETO family protein Mtgr1 mediates Prdm14 functions in stem cell maintenance and primordial germ cell formation.
    5. Cbfa2t2(-/-) mice display severe defects in primordial germ cell maturation and epigenetic reprogramming
      Title: Co-repressor CBFA2T2 regulates pluripotency and germline development.
    6. MTGR1 is required for tumorigenesis in the murine AOM/DSS colitis-associated carcinoma model.
      Title: MTGR1 is required for tumorigenesis in the murine AOM/DSS colitis-associated carcinoma model.
    7. Eto2 and Mtgr1 as authentic interaction partners of Tal1 and suggest they act as heteromeric corepressors of this bHLH transcription factor during erythroid differentiation.
      Title: Eto2/MTG16 and MTGR1 are heteromeric corepressors of the TAL1/SCL transcription factor in murine erythroid progenitors.
    8. c-Myc, a transcriptional target of the Wnt pathway, was overexpressed in the small intestines of mice lacking Mtgr1, thus linking inactivation of Mtgr1 to the activation of a potent oncogene
      Title: Myeloid translocation gene family members associate with T-cell factors (TCFs) and influence TCF-dependent transcription.
    9. Loss of Mtgr1 impairs the maturation of secretory cells in the small intestine.
      Title: Mtgr1 is a transcriptional corepressor that is required for maintenance of the secretory cell lineage in the small intestine.
    10. Mtgr1 has an important role in crypt survival and regeneration after colonic epithelial ulceration.
      Title: Deletion of Mtgr1 sensitizes the colonic epithelium to dextran sodium sulfate-induced colitis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within epithelial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intestinal epithelial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of Notch signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of neuron projection development ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    protein CBFA2T2
    Names
    CBFA2T2 identified gene homolog
    MTG8-like protein
    MTG8-related protein 1
    core-binding factor, runt domain, alpha subunit 2, translocated to, 2 homolog

    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_001285446.1 → NP_001272375.1  protein CBFA2T2 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site and uses a downstream start codon compared to variant 1. The resulting protein (isoform 3) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AL772292
      Conserved Domains (3) summary
      pfam01753
      Location:281 → 317
      zf-MYND; MYND finger
      pfam08788
      Location:105 → 171
      NHR2; NHR2 domain like
      cl27055
      Location:212 → 280
      MutS_III; MutS domain III

    2. NM_009823.1 → NP_033953.1  protein CBFA2T2 isoform 2

      See identical proteins and their annotated locations for NP_033953.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
      Source sequence(s)
      AK040403, AK148027, BC064679
      Consensus CDS
      CCDS50764.1
      UniProtKB/TrEMBL
      A0A0R4J1D5
      Related
      ENSMUSP00000105347.2, ENSMUST00000109725.8
      Conserved Domains (4) summary
      pfam01753
      Location:497 → 533
      zf-MYND; MYND finger
      pfam07531
      Location:106 → 192
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:322 → 388
      NHR2; NHR2 domain like
      cl27055
      Location:433 → 496
      MutS_III; MutS domain III

    3. NM_172860.2 → NP_766448.1  protein CBFA2T2 isoform 1

      See identical proteins and their annotated locations for NP_766448.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
      Source sequence(s)
      AK148027, BC064679
      Consensus CDS
      CCDS16932.1
      UniProtKB/Swiss-Prot
      B2RRH8, O70374, Q30BK8, Q6P288
      Related
      ENSMUSP00000043087.9, ENSMUST00000045270.15
      Conserved Domains (4) summary
      pfam01753
      Location:498 → 534
      zf-MYND; MYND finger
      pfam07531
      Location:106 → 192
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:322 → 388
      NHR2; NHR2 domain like
      cl27055
      Location:429 → 497
      MutS_III; MutS domain III

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      154278018..154381276
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036157841.1 → XP_036013734.1  protein CBFA2T2 isoform X6

      UniProtKB/TrEMBL
      F6WYU8
      Related
      ENSMUSP00000118371.2, ENSMUST00000137526.2
      Conserved Domains (3) summary
      PRK00409
      Location:161 → 229
      PRK00409; recombination and DNA strand exchange inhibitor protein; Reviewed
      pfam08788
      Location:54 → 120
      NHR2; NHR2 domain like
      pfam01753
      Location:230 → 266
      zf-MYND; MYND finger

    2. XM_006498642.3 → XP_006498705.1  protein CBFA2T2 isoform X4

      Conserved Domains (4) summary
      PRK00409
      Location:255 → 323
      PRK00409; recombination and DNA strand exchange inhibitor protein; Reviewed
      pfam01753
      Location:324 → 360
      zf-MYND; MYND finger
      pfam07531
      Location:106 → 191
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:171 → 214
      NHR2; NHR2 domain like

    3. XM_036157840.1 → XP_036013733.1  protein CBFA2T2 isoform X5

      Conserved Domains (4) summary
      PRK00409
      Location:259 → 322
      PRK00409; recombination and DNA strand exchange inhibitor protein; Reviewed
      pfam08788
      Location:171 → 214
      NHR2; NHR2 domain like
      pfam01753
      Location:323 → 359
      zf-MYND; MYND finger
      pfam07531
      Location:106 → 191
      TAFH; NHR1 homology to TAF

    4. XM_006498641.2 → XP_006498704.1  protein CBFA2T2 isoform X2

      Conserved Domains (4) summary
      PRK00409
      Location:381 → 449
      PRK00409; recombination and DNA strand exchange inhibitor protein; Reviewed
      pfam01753
      Location:450 → 486
      zf-MYND; MYND finger
      pfam07531
      Location:58 → 147
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:274 → 340
      NHR2; NHR2 domain like

    5. XM_030247023.1 → XP_030102883.1  protein CBFA2T2 isoform X3

      Conserved Domains (4) summary
      PRK00409
      Location:385 → 448
      PRK00409; recombination and DNA strand exchange inhibitor protein; Reviewed
      pfam01753
      Location:449 → 485
      zf-MYND; MYND finger
      pfam07531
      Location:58 → 147
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:274 → 340
      NHR2; NHR2 domain like

    6. XM_006498640.4 → XP_006498703.1  protein CBFA2T2 isoform X1

      See identical proteins and their annotated locations for XP_006498703.1

      UniProtKB/Swiss-Prot
      O70374
      Conserved Domains (4) summary
      PRK00409
      Location:409 → 477
      PRK00409; recombination and DNA strand exchange inhibitor protein; Reviewed
      pfam01753
      Location:478 → 514
      zf-MYND; MYND finger
      pfam07531
      Location:86 → 175
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:302 → 368
      NHR2; NHR2 domain like
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O70374.3 GenPept UniProtKB/Swiss-Prot:O70374

    Gene LinkOut

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

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