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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CBFA2T2
CBFA2/RUNX1 partner transcriptional co-repressor 2
Chromosome 20 · 20q11.21-q11.22
NCBI Gene: 9139Ensembl: ENSG00000078699.22HGNC: HGNC:1536UniProt: O43439
49PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of neuron projection developmentnucleustranscription corepressor activitynegative regulation of DNA-templated transcriptionAbnormality of the skeletal systemhair colorskin diseasecancer
✦AI Summary

CBFA2T2 is a transcriptional corepressor that functions as a critical developmental regulator with broad biological significance. Mechanistically, CBFA2T2 facilitates transcriptional repression by associating with DNA-binding transcription factors and recruiting corepressors and histone-modifying enzymes 1. Notably, it forms oligomeric scaffolds that stabilize PRDM14 and OCT4 on chr20, regulating embryonic stem cell pluripotency and primordial germ cell formation 2. CBFA2T2 controls developmental programs including osteogenic and adipogenic differentiation of mesenchymal stem cells through epigenetic mechanisms—it inhibits histone methyltransferase-mediated H3K9 methylation at Runx2 and CEBPA promoters, respectively 3 4. In disease contexts, CBFA2T2 alterations are associated with group 4 medulloblastoma, where disrupted CBFA2T2 function causes developmental stalling of cerebellar progenitors 5. CBFA2T2 may function with the leukemic AML1-MTG8 fusion protein in myeloid tumors and represents a candidate tumor suppressor in 20q11-deleted myeloid malignancies. Additionally, genetic variants near CBFA2T2 show association with pancreatic fat deposition and chr20 pancreatitis risk 6, suggesting roles in metabolic homeostasis. Its functional flexibility across developmental, hematopoietic, and metabolic contexts underscores CBFA2T2 as a versatile epigenetic regulator.

Sources cited
1
CBFA2T2 functions as a transcriptional corepressor recruiting corepressors and histone-modifying enzymes
PMID: 12559562
2
CBFA2T2 regulates pluripotency and germline development by forming complexes with PRDM14 and stabilizing OCT4 on chromatin
PMID: 27281218
3
CBFA2T2 is required for BMP-2-induced osteogenic differentiation through inhibition of EHMT1-mediated histone methylation at Runx2 promoter
PMID: 29378183
4
CBFA2T2 promotes adipogenic differentiation by regulating CEBPA through histone methylation changes
PMID: 32703401
5
CBFA2T2 mutations converge with other CBFA complex alterations in group 4 medulloblastoma and cause developmental stalling
PMID: 36131014
6
CBFA2T2 genetic variants associate with pancreatic fat deposition and chronic pancreatitis risk
PMID: 40744837
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.46Moderate
hair colorOpen Targets
0.35Weak
skin diseaseOpen Targets
0.26Weak
cancerOpen Targets
0.20Weak
benign prostatic hyperplasiaOpen Targets
0.19Weak
basal cell carcinomaOpen Targets
0.12Weak
prostate carcinomaOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.09Suggestive
azoospermiaOpen Targets
0.08Suggestive
renal cell carcinomaOpen Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
primary ovarian insufficiencyOpen Targets
0.07Suggestive
spinocerebellar ataxia type 32Open Targets
0.06Suggestive
spermatogenic failure 63Open Targets
0.06Suggestive
46,XX gonadal dysgenesisOpen Targets
0.06Suggestive
spermatogenic failure 25Open Targets
0.06Suggestive
isochromosomy YpOpen Targets
0.06Suggestive
spermatogenic failure 57Open Targets
0.06Suggestive
spermatogenic failure 50Open Targets
0.06Suggestive
Isolated follicle stimulating hormone deficiencyOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PRDM14Protein interaction97%RUNX1Protein interaction91%CBFA2T3Protein interaction91%RUNX1T1Protein interaction90%PRDM6Protein interaction85%RGMAShared pathway25%
Tissue Expression6 tissues
Brain
100%
Ovary
45%
Heart
28%
Bone Marrow
27%
Lung
27%
Liver
26%
Gene Interaction Network
Click a node to explore
CBFA2T2PRDM14RUNX1CBFA2T3RUNX1T1PRDM6RGMA
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O43439
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.31Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.18 [0.11–0.31]
RankingsWhere CBFA2T2 stands among ~20K protein-coding genes
  • #8,924of 20,598
    Most Researched49
  • #1,251of 17,882
    Most Constrained (LOEUF)0.31 · top 10%
Genes detectedCBFA2T2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Failure of human rhombic lip differentiation underlies medulloblastoma formation.
PMID: 36131014
Nature · 2022
1.00
2
CBFA2T2 promotes adipogenic differentiation of mesenchymal stem cells by regulating CEBPA.
PMID: 32703401
Biochem Biophys Res Commun · 2020
0.90
3
Co-repressor CBFA2T2 regulates pluripotency and germline development.
PMID: 27281218
Nature · 2016
0.80
4
A Pluripotency Platform for Prdm14.
PMID: 27404351
Dev Cell · 2016
0.70
5
CBFA2T2 is required for BMP-2-induced osteogenic differentiation of mesenchymal stem cells.
PMID: 29378183
Biochem Biophys Res Commun · 2018
0.60