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

Summary

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, Jul 2025]
Expression: Ubiquitous expression in whole brain E14.5 (RPKM 10.6), CNS E14 (RPKM 10.3) and 28 other tissues See more
Orthologs: all
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Genomic context

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_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CBFA2T2 promotes adipogenic differentiation of mesenchymal stem cells by regulating CEBPA.
Title: CBFA2T2 promotes adipogenic differentiation of mesenchymal stem cells by regulating CEBPA.
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.
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.
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.
Cbfa2t2(-/-) mice display severe defects in primordial germ cell maturation and epigenetic reprogramming
Title: Co-repressor CBFA2T2 regulates pluripotency and germline development.
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.
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.
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.
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.
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.

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Variation

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Alleles

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

Endonuclease-mediated (5) 1 citation
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BB209270 (e-PCR)
- UniSTS:207430

NoName (e-PCR)
- UniSTS:234566

NoName (e-PCR)
- UniSTS:234574

Cbfa2t2 (e-PCR), detects polymorphism
- UniSTS:547195

D2Mit286 (e-PCR), detects polymorphism
- UniSTS:129172

NoName (e-PCR)
- UniSTS:235181

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
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	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info
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
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation 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
is_active_in nucleus	ISS Inferred from Sequence or Structural Similarity 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)

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
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
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

NC_000068.8 Reference GRCm39 C57BL/6J

Range

154278018..154381276

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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