CBFB

Chr 16q22.1

core-binding factor subunit beta

Aliases:: PEBP2B
MANE:: ENST00000412916.7

OMIM: 121360 ↗NCBI: 865 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

CBFB · Q13951

v62025-08-01

Predicted Aligned Error matrix for CBFB — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.8/ 100

Confident

182 residues

Confidence breakdown

Very high(≥ 90)57%
Confident(70–90)35%
Low(50–70)7%
Very low(< 50)1%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

cleidocranial dysplasia 1
0.71
breast adenocarcinoma
0.51
breast carcinoma
0.40
lymphoid neoplasm
0.37
breast lobular carcinoma
0.37
esophageal adenocarcinoma
0.37
breast ductal adenocarcinoma
0.37
bile duct carcinoma
0.37
ovarian endometrioid adenocarcinoma with squamous differentiation
0.37
carcinoma of liver and intrahepatic biliary tract
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Core-binding factor subunit beta

Forms the heterodimeric complex core-binding factor (CBF) with RUNX family proteins (RUNX1, RUNX2, and RUNX3). RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters. CBF complexes repress ZBTB7B transcription factor during cytotoxic (CD8+) T cell development. They bind to RUNX-binding sequence within the ZBTB7B locus acting as transcriptional silencer and allowing for cytotoxic T cell differentiation