Gene Gene information from NCBI Gene database.
Entrez ID 865
Gene name Core-binding factor subunit beta
Gene symbol CBFB
Synonyms (NCBI Gene)
CLCD2PEBP2B
Chromosome 16
Chromosome location 16q22.1
Summary 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.
550
miRTarBase ID miRNA Experiments Reference
MIRT000676 hsa-miR-145-5p qRT-PCRLuciferase reporter assayMicroarray 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 factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
GATA1 Repression 19825991
MYC Unknown 9064279
SP1 Unknown 9064279
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
121360 1539 ENSG00000067955
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cleidocranial dysplasia 2 Pathogenic rs2544397242 RCV002293960
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Uncertain significance ClinVar
GWAS catalog
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BONE DISEASES, DEVELOPMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CBFB-related disorder Uncertain significance; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 22012064, 24449215, 9156661
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 11369654, 15820957
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 17052753, 17287858, 30728457
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia (AML-M2) Leukemia CTD_human_DG 18206229, 27798625
★☆☆☆☆
Found in Text Mining only
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Myeloid Leukemia With Abnormal Bone Marrow Eosinophils Inv(16)(P13q22) Or T(16;16)(P13;Q22) Orphanet
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia, M1 Myeloid Leukemia CTD_human_DG 18206229, 27798625
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia, M1 Myeloid Leukemia BEFREE 31353165
★☆☆☆☆
Found in Text Mining only
Acute myelomonocytic leukemia Myelomonocytic Leukemia CTD_human_DG 10958941
★☆☆☆☆
Found in Text Mining only
Acute myelomonocytic leukemia Myelomonocytic Leukemia BEFREE 11369654, 15381374, 18328953, 19215788
★☆☆☆☆
Found in Text Mining only
Acute myelomonocytic leukemia Myelomonocytic Leukemia LHGDN 17571080
★☆☆☆☆
Found in Text Mining only