CBFB - core-binding factor subunit beta Gene

Also Known as CLCD2; PEBP2B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 865

About CBFB

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:67,029,149-67,101,058 (from NCBI)

This gene has 13 transcripts (splice variants), 215 orthologues and is associated with 64 phenotypes. Ubiquitous expression in lymph node (RPKM 12.7), appendix (RPKM 9.3) and 25 other tissues.

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 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]

CBFB Products (6)

mRNA	Protein	Name
NM_001368707.1	NP_001355636.1	core-binding factor subunit beta isoform 3
NM_001368708.1	NP_001355637.1	core-binding factor subunit beta isoform 4
NM_001368709.1	NP_001355638.1	core-binding factor subunit beta isoform 5
NM_001368710.1	NP_001355639.1	core-binding factor subunit beta isoform 6
NM_001755.3	NP_001746.1	core-binding factor subunit beta isoform 2
NM_022845.3	NP_074036.1	core-binding factor subunit beta isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	2845103	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in protein polyubiquitination	IMP IMP: Inferred from mutant phenotype	22190036	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CBFB Protein Structure

CBF_beta

0
100
182 a.a.

Protein Preferred Names	Protein Names
core-binding factor subunit beta	CBF-beta

CBFB Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CBFB	Q13951	RUNX1	Homo sapiens	Q01196-8	Y2H Prey Pooling	32296183
Intra	CBFB	Q13951	RUNX1	Homo sapiens	Q01196-8	Y2H Array	32296183
Intra	CBFB	Q13951	RUNX3	Homo sapiens	Q13761-2	Y2H Array	32296183
Intra	CBFB	Q13951	RUNX3	Homo sapiens	Q13761-2	Y2H Prey Pooling	32296183
Intra	CBFB	Q13951	INTS13	Homo sapiens	Q9NVM9	Display Tech	20195357
Intra	CBFB	Q13951	RUNX1	Homo sapiens	Q01196	Anti Tag CoIP	33961781
Intra	CBFB	Q13951	RUNX1	Homo sapiens	Q01196	Anti Tag CoIP	17431401
Intra	CBFB	Q13951	RUNX1	Homo sapiens	Q01196	Anti Tag CoIP	34591612
Intra	CBFB	Q13951	RUNX1	Homo sapiens	Q01196	X-Ray Diffraction	2845103
Intra	CBFB	Q13951	RUNX1	Homo sapiens	Q01196	Anti Bait CoIP	25678665
Intra	CBFB	Q13951	RUNX3	Homo sapiens	Q13761	Anti Tag CoIP	33961781
Cross	CBFB	Q13951	vif	Human immunodeficiency virus	P12504	Ion Exchange Chrom	24402281

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CBFB Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76767	CBFB Protein, Human (His)	Q13951-1 (P2-P182)	≥ 90%, as determined by reducing SDS-PAGE.

CBFB Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82261	CBFB Antibody (YA2006)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Acute Myelomonocytic Leukemia	Acute Myeloid Leukemia With Abnormal Bone Marrow Eosinophils Inv(16)(P13q22) Or T(16 16)(P13 Q22) Aml M4 Ammol Acute Myeloblastic Leukemia Type 4 Aml With Abnormal Bone Marrow Eosinophils Inv(16)(P13q22) Or T(16 16)(P13 Q22) Aml-M4 Aml With Inv(16)(P13.1q22) Or T(16 16)(P13.1 Q22) Cbfb-Myh11 Leukemia Myelomonocytic Acute Leukemia, Myelomonocytic, Acute Acute Myelomonocytic Leukaemia Without Mention Of Remission Myelomonocytic Leukaemia Nos
Leukemia, Acute Myeloid	Acute Myeloid Leukemia Leukemia, Acute Myelogenous Acute Myelogenous Leukemia AML Leukemia, Acute Myeloid, Susceptibility To Acute Myeloblastic Leukemia Leukemia, Acute Myeloid, Reduced Survival In, Somatic Acute Myeloid Leukaemia Leukemia, Myelocytic, Acute Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome Secondary Aml Acute Myelocytic Leukemia Acute Myeloid Leukemia, Somatic Leukemia, Acute Myeloid, Somatic Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic Acute Myeloblastic Leukaemia Acute Myelogenous Leukaemia Aml - Acute Myeloid Leukemia Acute Myeloid Leukemia With Cebpa Somatic Mutations Aml With Cebpa Somatic Mutations Inherited Acute Myeloid Leukemia Familial Aml Inherited Aml Pure Familial Aml Pure Familial Acute Myeloid Leukemia Secondary Acute Myeloid Leukemia Therapy-Related Aml And Myelodysplastic Syndrome Acute Myeloid Leukemia, Secondary Acute Non-Lymphoblastic Leukemia Acute Non-Lymphocytic Leukemia Acute Biphenotypic Leukemia Acute Undifferentiated Leukemia Acute Myeloblastic Leukaemia With Multilineage Dysplasia Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission Acute Myeloid Leukaemia With Myelodysplasia-Related Features
Myeloid Leukemia	Myeloid Leukaemia Leukaemia Myelogenous Leukemia Myelogenous Myeloid Granulocytic Leukaemia Myeloid Granulocytic Leukemia Non-Lymphocytic Leukemia Leukemia, Myeloid Granulocytic Leukaemia Myelogenous Leukaemia Myeloid Leukaemia, Unspecified, Without Mention Of Remission
Cleidocranial Dysplasia	Cleidocranial Dysostosis CLCD Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly CCD Marie-Sainton Disease Dysplasia Cleidocranial Dento-Osseous Dysplasia Marie-Sainton Syndrome Dysplasia, Cleidocranial
Leukemia	Leukemias Leukaemia, Unspecified, Without Mention Of Remission Aleukemic Leukaemia Chronic Leukaemia Subacute Leukaemia Leukaemia Disorder Leukaemia Nos
Estrogen-Receptor Positive Breast Cancer
Acute Leukemia	Stem Cell Leukaemia Stem Cell Leukemia Acute Leukemias Acute Undifferentiated Leukemia Undifferentiated Leukemia Acute Leukaemia Of Unspecified Cell Type Without Mention Of Remission Blast Cell Leukaemia Blast Leukaemia Blastic Leukaemia Undifferentiated Leukaemia
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Leukemia, Acute Lymphoblastic	Acute Lymphoblastic Leukemia ALL Acute Lymphocytic Leukemia Leukemia, Acute Lymphocytic, Susceptibility To, 1 Acute Lymphoblastic Leukaemia Precursor Lymphoblastic Lymphoma/Leukemia Precursor Lymphoid Neoplasm Leukemia, Acute Lymphoblastic, Susceptibility To B-Cell Acute Lymphoblastic Leukemia Leukemia, Acute Lymphocytic 1 Acute Lymphocytic Leukaemia Acute Lymphoblastic Leukemia/Lymphoma All1 Childhood Acute Lymphoblastic Leukemia Leukemia Acute Lymphoblastic 1 Leukemia Acute Lymphoblastic B-Hyperdiploid Leukemia Acute Lymphocytic Leukemia Acute Lymphocytic 1 Leukemia B-Cell Acute Lymphoblastic Leukemia T-Cell Acute Lymphoblastic Leukemia, Acute Lymphoblastic, 3 ALL3 Lymphoblastic Leukemia Acute Leukemia, Acute, Lymphoblastic Precursor Cell Lymphoblastic Leukemia Lymphoma Leukemia, Lymphocytic, Acute, L1 Leukemia, Acute Lymphoblastic, Susceptibility To, 3
Myelodysplastic Syndrome	Myelodysplastic Syndromes Myelodysplasia MDS Myelodysplastic Syndrome Included Myelodysplastic Syndrome, Susceptibility To, Included Myelodysplastic Syndrome, Somatic Myelodysplastic Syndrome, Susceptibility To
Leukemia, Chronic Myeloid	Chronic Myeloid Leukemia Chronic Myelogenous Leukemia CML Chronic Granulocytic Leukemia Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib Chronic Myeloid Leukaemia Chronic Granulocytic Leukaemia Chronic Myelogenous Leukaemia Myeloid Leukemia, Chronic Leukemia, Chronic Myelogenous Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic Cml - Chronic Myelogenous Leukemia Cgl Chronic Myelocytic Leukemia Leukemia, Chronic Myeloid, Atypical ACML Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative Myeloid Leukemia Chronic Leukemia, Myeloid, Chronic Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative Cml- [Chronic Myeloid Leukaemia] Cgl - [Chronic Granulocytic Leukaemia] Chronic Myelocytic Leukaemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (11)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-108470	Ro5-3335	Inhibitor	99.52%	Unkown
HY-RS01995	CBFB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-124137	Runx1-CBFβ interaction inhibitor 1	Inhibitor	/	Unkown
HY-RS09271	NFYA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS09272	NFYB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174541	Human RUNX1 mRNA		/	Unkown
HY-RS18748	Cbfb Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20307	Nfya Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25235	Cbfb Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26815	Nfya Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28777	Nfyb Rat Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CBFB	VGNC	VGNC:38757
Rattus norvegicus	CBFB	RGD	RGD:620493
Bos taurus	CBFB	VGNC	VGNC:26807
Mus musculus	CBFB	MGD	MGI:99851
Others	CBFB	NCBI