Cbfa2t3 CBFA2/RUNX1 translocation partner 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cbfa2t3provided by MGI
Official Full Name: CBFA2/RUNX1 translocation partner 3provided by MGI
Primary source: MGI:MGI:1338013
See related: Ensembl:ENSMUSG00000006362 AllianceGenome:MGI:1338013
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: Eto2; ETO-2; MTGR2; Cbfa2t3h; A630044F12Rik
Summary: Enables chromatin binding activity. Acts upstream of or within negative regulation of transcription by RNA polymerase II. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. Is expressed in several structures, including central nervous system; genitourinary system; mesenchyme derived from splanchnopleure; retina; and spleen. Orthologous to human CBFA2T3 (CBFA2/RUNX1 partner transcriptional co-repressor 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in lung adult (RPKM 8.3), thymus adult (RPKM 7.0) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 E1; 8 71.93 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (123351875..123426069, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (122625136..122699332, complement)

Chromosome 8 - NC_000074.7 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

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MTG16 regulates colonic epithelial differentiation, colitis, and tumorigenesis by repressing E protein transcription factors.
Title: MTG16 regulates colonic epithelial differentiation, colitis, and tumorigenesis by repressing E protein transcription factors.
Embryonic erythropoiesis and hemoglobin switching require transcriptional repressor ETO2 to modulate chromatin organization.
Title: Embryonic erythropoiesis and hemoglobin switching require transcriptional repressor ETO2 to modulate chromatin organization.
The pluripotency regulator PRDM14 requires the master hematopoietic regulator CBFA2T3 to initiate leukemia in progenitor cells, demonstrating an oncogenic role for CBFA2T3 and providing an avenue for targeting cancer-initiating cells.
Title: The Pluripotency Regulator PRDM14 Requires Hematopoietic Regulator CBFA2T3 to Initiate Leukemia in Mice.
Study reveals a complex pattern of gene regulation by SCL, ETO2 and RYBP. Genome-wide analyses shows locus-specific binding of ETO2 and RYBP on SCL's 778 activated and repressed genes.
Title: SCL/TAL1 cooperates with Polycomb RYBP-PRC1 to suppress alternative lineages in blood-fated cells.
gene deficient mice have decreased levels of systemic monocytes and infarct-associated macrophages and display compromised tissue healing and post-MI heart failure
Title: Myocardial Infarction Activates CCR2(+) Hematopoietic Stem and Progenitor Cells.
MTG16 loss promotes radioresistance and impacts intestinal stem cell function, possibly due to shifting cellular response away from DNA damage-induced apoptosis and towards DNA repair after injury.
Title: Transcriptional corepressor MTG16 regulates small intestinal crypt proliferation and crypt regeneration after radiation-induced injury.
Mtg16 promotes plasmacytoid dendritic cell differentiation and restricts classical dendritic cell development in part by repressing Id2.
Title: ETO family protein Mtg16 regulates the balance of dendritic cell subsets by repressing Id2.
MTG16 is critical for colonocyte survival and regeneration in response to intestinal injury and provide evidence that this transcriptional corepressor regulates inflammatory recruitment in response to injury.
Title: MTG16 contributes to colonic epithelial integrity in experimental colitis.
Mtg16 integrates the activities of signaling pathways and nuclear factors in the establishment of T-cell fate specification.
Title: Mtg16/Eto2 contributes to murine T-cell development.
Data suggest that MTG16 interfaces with critical components of the Notch transcription complex to affect Notch-dependent lineage allocation in hematopoiesis.
Title: Myeloid translocation gene 16 (MTG16) interacts with Notch transcription complex components to integrate Notch signaling in hematopoietic cell fate specification.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

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

Targeted (2) 1 citation
Endonuclease-mediated (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

UniSTS:236036 (e-PCR)
- UniSTS:236036

AI465270 (e-PCR)
- UniSTS:159829

RH138682 (e-PCR)
- UniSTS:220769

AW229127 (e-PCR)
- UniSTS:179838

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
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

Process	Evidence Code	Pubs
involved_in DNA-templated transcription	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within granulocyte differentiation	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of glycolytic process	ISO Inferred from Sequence Orthology 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 proteasomal ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of aerobic respiration	ISO Inferred from Sequence Orthology more info
involved_in response to hypoxia	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in intracellular anatomical structure	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: protein CBFA2T3

Names: ETO/MTG8-related protein ETO-2; MTG8-related protein 2; eight twenty one protein 2; myeloid translocation gene-related protein 2

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_001109873.1 → NP_001103343.1 protein CBFA2T3 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and lacks an in-frame portion of the 5' coding region compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct N-terminus compared to isoform 1.

Source sequence(s)

AA221901, AC151999, AK033680, AK041887, BB658300

Consensus CDS

CCDS52697.1

UniProtKB/Swiss-Prot

O54972, Q7TND6, Q8BZS0

UniProtKB/TrEMBL

E9QM80

Related

ENSMUSP00000065728.7, ENSMUST00000064674.13

Conserved Domains (4) summary

COG2811
Location:426 → 492

NtpH; Archaeal/vacuolar-type H+-ATPase subunit H [Energy production and conversion]

pfam01753
Location:498 → 534

zf-MYND; MYND finger

pfam07531
Location:113 → 202

TAFH; NHR1 homology to TAF

pfam08788
Location:321 → 387

NHR2; NHR2 domain like
NM_009824.2 → NP_033954.2 protein CBFA2T3 isoform 1

See identical proteins and their annotated locations for NP_033954.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest protein (isoform 1).

Source sequence(s)

AA221901, AC151999, AF038029, AK033680, AK041887, BY205603

Consensus CDS

CCDS22744.1

UniProtKB/Swiss-Prot

O54972, Q7TND6, Q8BZS0

UniProtKB/TrEMBL

B7ZP57

Related

ENSMUSP00000118997.2, ENSMUST00000127984.9

Conserved Domains (4) summary

COG2811
Location:461 → 527

NtpH; Archaeal/vacuolar-type H+-ATPase subunit H [Energy production and conversion]

pfam01753
Location:533 → 569

zf-MYND; MYND finger

pfam07531
Location:148 → 234

TAFH; NHR1 homology to TAF

pfam08788
Location:356 → 422

NHR2; NHR2 domain like
NM_177289.1 → NP_796263.1 protein CBFA2T3 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and lacks two in-frame portions of the 5' coding region compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct N-terminus compared to isoform 1.

Source sequence(s)

AA221901, AC151999, AK033680, AK041887

Consensus CDS

CCDS52696.1

UniProtKB/Swiss-Prot

O54972, Q7TND6, Q8BZS0

Related

ENSMUSP00000006525.7, ENSMUST00000006525.14

Conserved Domains (4) summary

COG2811
Location:400 → 466

NtpH; Archaeal/vacuolar-type H+-ATPase subunit H [Energy production and conversion]

pfam01753
Location:472 → 508

zf-MYND; MYND finger

pfam07531
Location:87 → 176

TAFH; NHR1 homology to TAF

pfam08788
Location:295 → 361

NHR2; NHR2 domain like

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_000074.7 Reference GRCm39 C57BL/6J

Range

123351875..123426069 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011248291.4 → XP_011246593.1 protein CBFA2T3 isoform X5

UniProtKB/Swiss-Prot

O54972, Q7TND6, Q8BZS0

Conserved Domains (4) summary

COG2811
Location:465 → 531

NtpH; Archaeal/vacuolar-type H+-ATPase subunit H [Energy production and conversion]

pfam01753
Location:537 → 573

zf-MYND; MYND finger

pfam07531
Location:148 → 237

TAFH; NHR1 homology to TAF

pfam08788
Location:356 → 426

NHR2; NHR2 domain like
XM_011248293.3 → XP_011246595.1 protein CBFA2T3 isoform X3

UniProtKB/Swiss-Prot

O54972, Q7TND6, Q8BZS0

Conserved Domains (4) summary

COG2811
Location:404 → 470

NtpH; Archaeal/vacuolar-type H+-ATPase subunit H [Energy production and conversion]

pfam01753
Location:476 → 512

zf-MYND; MYND finger

pfam07531
Location:87 → 176

TAFH; NHR1 homology to TAF

pfam08788
Location:295 → 365

NHR2; NHR2 domain like
XM_011248292.3 → XP_011246594.1 protein CBFA2T3 isoform X1

UniProtKB/Swiss-Prot

O54972, Q7TND6, Q8BZS0

Conserved Domains (4) summary

COG2811
Location:430 → 496

NtpH; Archaeal/vacuolar-type H+-ATPase subunit H [Energy production and conversion]

pfam01753
Location:502 → 538

zf-MYND; MYND finger

pfam07531
Location:113 → 202

TAFH; NHR1 homology to TAF

pfam08788
Location:321 → 391

NHR2; NHR2 domain like
XM_030243267.1 → XP_030099127.1 protein CBFA2T3 isoform X2

UniProtKB/Swiss-Prot

O54972, Q7TND6, Q8BZS0

Conserved Domains (4) summary

COG2811
Location:534 → 600

NtpH; Archaeal/vacuolar-type H+-ATPase subunit H [Energy production and conversion]

pfam01753
Location:606 → 642

zf-MYND; MYND finger

pfam07531
Location:221 → 310

TAFH; NHR1 homology to TAF

pfam08788
Location:429 → 495

NHR2; NHR2 domain like
XM_030243268.2 → XP_030099128.1 protein CBFA2T3 isoform X3

UniProtKB/Swiss-Prot

O54972, Q7TND6, Q8BZS0

Conserved Domains (4) summary

COG2811
Location:404 → 470

NtpH; Archaeal/vacuolar-type H+-ATPase subunit H [Energy production and conversion]

pfam01753
Location:476 → 512

zf-MYND; MYND finger

pfam07531
Location:87 → 176

TAFH; NHR1 homology to TAF

pfam08788
Location:295 → 365

NHR2; NHR2 domain like
XM_011248289.4 → XP_011246591.2 protein CBFA2T3 isoform X1

UniProtKB/Swiss-Prot

O54972, Q7TND6, Q8BZS0

Conserved Domains (4) summary

COG2811
Location:430 → 496

NtpH; Archaeal/vacuolar-type H+-ATPase subunit H [Energy production and conversion]

pfam01753
Location:502 → 538

zf-MYND; MYND finger

pfam07531
Location:113 → 202

TAFH; NHR1 homology to TAF

pfam08788
Location:321 → 391

NHR2; NHR2 domain like
XM_030243269.2 → XP_030099129.1 protein CBFA2T3 isoform X4

UniProtKB/Swiss-Prot

O54972, Q7TND6, Q8BZS0

Conserved Domains (4) summary

COG2811
Location:400 → 466

NtpH; Archaeal/vacuolar-type H+-ATPase subunit H [Energy production and conversion]

pfam01753
Location:472 → 508

zf-MYND; MYND finger

pfam07531
Location:87 → 176

TAFH; NHR1 homology to TAF

pfam08788
Location:295 → 361

NHR2; NHR2 domain like
XM_017312547.2 → XP_017168036.1 protein CBFA2T3 isoform X6

UniProtKB/Swiss-Prot

O54972, Q7TND6, Q8BZS0

Conserved Domains (4) summary

COG2811
Location:363 → 429

NtpH; Archaeal/vacuolar-type H+-ATPase subunit H [Energy production and conversion]

pfam01753
Location:435 → 471

zf-MYND; MYND finger

pfam07531
Location:46 → 135

TAFH; NHR1 homology to TAF

pfam08788
Location:254 → 324

NHR2; NHR2 domain like
XM_030243270.2 → XP_030099130.1 protein CBFA2T3 isoform X7

Conserved Domains (2) summary

pfam07531
Location:113 → 202

TAFH; NHR1 homology to TAF

pfam08788
Location:321 → 344

NHR2; NHR2 domain like
XM_030243271.2 → XP_030099131.1 protein CBFA2T3 isoform X8

Conserved Domains (2) summary

pfam07531
Location:113 → 202

TAFH; NHR1 homology to TAF

pfam08788
Location:321 → 342

NHR2; NHR2 domain like