Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
865
Gene name Gene Name - the full gene name approved by the HGNC.
Core-binding factor subunit beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CBFB
Synonyms (NCBI Gene) Gene synonyms aliases
CLCD2, PEBP2B
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q22.1
Summary Summary of gene provided in NCBI Entrez 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 osteogenesi
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000676 hsa-miR-145-5p qRT-PCR, Luciferase reporter assay, Microarray 19915607
MIRT005217 hsa-miR-30a-5p pSILAC 18668040
MIRT001562 hsa-miR-155-5p pSILAC 18668040
MIRT005054 hsa-let-7b-5p Microarray 17699775
MIRT003970 hsa-miR-125b-5p Microarray 17891175
Transcription factors
Transcription factor Regulation Reference
GATA1 Repression 19825991
MYC Unknown 9064279
SP1 Unknown 9064279
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000209 Process Protein polyubiquitination IMP 22190036
GO:0001503 Process Ossification IEA
GO:0001649 Process Osteoblast differentiation IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
121360 1539 ENSG00000067955
Protein
UniProt ID Q13951
Protein name Core-binding factor subunit beta (CBF-beta) (Polyomavirus enhancer-binding protein 2 beta subunit) (PEA2-beta) (PEBP2-beta) (SL3-3 enhancer factor 1 subunit beta) (SL3/AKV core-binding factor beta subunit)
Protein function 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
PDB 1CL3 , 1E50 , 1H9D , 4N9F , 6NIL , 6P59 , 6VGD , 6VGE , 6VGG , 8CX0 , 8CX1 , 8CX2 , 8E40 , 8FVI , 8FVJ , 8H0I , 8J62 , 8SZK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02312 CBF_beta 1 168 Core binding factor beta subunit Family
Sequence
Sequence length 182
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)
Transcriptional regulation by RUNX2
RUNX1 regulates estrogen receptor mediated transcription
Regulation of RUNX1 Expression and Activity
RUNX1 regulates expression of components of tight junctions
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
RUNX1 regulates transcription of genes involved in differentiation of HSCs
RUNX1 regulates transcription of genes involved in differentiation of keratinocytes
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
RUNX1 regulates transcription of genes involved in BCR signaling
RUNX1 regulates transcription of genes involved in differentiation of myeloid cells
RUNX1 regulates transcription of genes involved in interleukin signaling
RUNX1 regulates transcription of genes involved in WNT signaling
Regulation of RUNX2 expression and activity
RUNX2 regulates osteoblast differentiation
RUNX2 regulates bone development
RUNX2 regulates genes involved in cell migration
RUNX2 regulates genes involved in differentiation of myeloid cells
Regulation of RUNX3 expression and activity
RUNX3 Regulates Immune Response and Cell Migration
RUNX3 regulates RUNX1-mediated transcription
RUNX3 regulates p14-ARF
Estrogen-dependent gene expression
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer specific mortality in estrogen receptor positive breast cancer N/A N/A GWAS
Cleidocranial Dysplasia cleidocranial dysplasia 2 N/A N/A GenCC
Myeloid Leukemia acute myeloid leukemia N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute erythroleukemia Associate 15224374
Adenocarcinoma Associate 24390348
Alcohol Related Disorders Associate 36241386
Breast Carcinoma In Situ Associate 26643573, 31932682
Breast Neoplasms Associate 27428424, 28027327, 30655324, 35732329
Carcinoma Hepatocellular Associate 17094378
Carcinoma Lobular Associate 26643573
Chromosome 16 trisomy Associate 7858261
Chromosome Aberrations Associate 22623292
Cleidocranial Dysplasia Associate 10856244, 18166138, 36241386, 39894570