Seroatlas · Human Serome Atlas

CBFB

Core-binding factor subunit beta

Also known as: PEBB_HUMAN, PEBP2B

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q13951
Gene
CBFB
Ensembl
ENSG00000067955
Chromosome
16
Canonical length
182 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Cytosol

OverviewNCBI Gene

The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

182 residues, UniProt reviewed canonical sequence.

>Q13951|CBFB
     1  MPRVVPDQRS KFENEEFFRK LSRECEIKYT GFRDRPHEER QARFQNACRD GRSEIAFVAT
    61  GTNLSLQFFP ASWQGEQRQT PSREYVDLER EAGKVYLKAP MILNGVCVIW KGWIDLQRLD
   121  GMGCLEFDEE RAQQEDALAQ QAFEEARRRT REFEDRDRSH REEMEVRVSQ LLAVTGKKTT
   181  RP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CBFB can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.35
Highest tissue expression
16 nTPM

Expression across tissuesHPA

Tissue

  • appendix: 16 nTPM
  • lymph node: 15 nTPM
  • skeletal muscle: 15 nTPM
  • stomach: 14 nTPM
  • spleen: 13 nTPM
  • thymus: 13 nTPM

Single-cell type

  • choroid plexus epithelial cells: 296 nCPM
  • monocyte progenitors: 172 nCPM
  • pituicytes/fscs: 170 nCPM
  • neutrophil progenitors: 164 nCPM
  • microglia: 159 nCPM
  • thymic myoid cells: 159 nCPM

Immune cell

  • basophil: 29 nTPM
  • NK-cell: 18 nTPM
  • myeloid DC: 10 nTPM
  • intermediate monocyte: 9.6 nTPM
  • classical monocyte: 7.7 nTPM
  • naive B-cell: 7.3 nTPM

Brain region

  • white matter: 46 nTPM
  • medulla oblongata: 42 nTPM
  • basal ganglia: 37 nTPM
  • pons: 33 nTPM
  • thalamus: 32 nTPM
  • cerebellum: 32 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CBFB.

Disease | AllUniProt

Conditions CBFB is implicated in, by any mechanism.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 36 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Cleidocranial dysplasia 2

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.33
gnomAD pLI
0.96
gnomAD missense Z
1.71
DepMap mean gene effect
-0.26
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Core-binding factor, beta subunit
  • Core-binding factor, beta subunit superfamily
  • Core binding factor beta subunit

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CBFB in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CBFB as an antibody target. Whether an autoantibody or antibody against CBFB could matter depends on whether native CBFB is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CBFB is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CBFB as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CBFB. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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