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FLASH GENE

Symbol

CBFB

contributors: mct - updated : 08-02-2018

HGNC name	core-binding factor, beta subunit
HGNC id	1539

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AMLM4EO acute myelomonocytic leukemia with bone marrow eosinophilia
Location	16q22.1      Physical location : 67.063.049 - 67.134.956
Synonym name	core binding factor to the enhancer of T cell receptor genes,beta subunit
	SL3-3 enhancer factor 1 beta subunit
	SL3/AKV core-binding factor beta subunit
	polyomavirus enhancer binding protein 2, beta subunit
Synonym symbol(s)	PEBP2B

DNA

TYPE	functioning gene
STRUCTURE	71.00 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed CBFB variant 1 - - 3150 22.1 187 - - CBFB variant 2 - splicing 3181 21.5 182 - - alternative donor site in exon 5 and different ORF from exon 1

EXPRESSION

Type	ubiquitous

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver           salivary gland       highly Endocrine parathyroid       highly Respiratory lung

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly Connective bone     highly Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	developing bone

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two distinct domains, a newly defined regulatory domain that interacts with filamin A
	the previously identified RUNX1-binding domain

mono polymer

heteromer , dimer

HOMOLOGY

interspecies

homolog to murine Cbfb

Homologene

FAMILY

CBF beta family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,chromatin/chromosome
text	Filamin A retains CBFB in the cytoplasm, thereby hindering its engagement as a RUNX1 partner

basic FUNCTION	master regulator for a host of genes specific to hematopoiesis (RUNX1) or osteogenesis (RUNX2)
	required for hematopoietic stem cells emergence, bone formation and normal differentiation of lymphoid and myeloid lineage cells
	involved in the regulation of the G1-checkpoint at the cyclin-dependent kinase inhibitor CDKN1A
	CBFB and RUNX1 are critical for the establishment of definitive hematopoiesis and are implicated in leukemic transformation
	Runx proteins and CBFB restrict granulocyte lineage commitment to facilitate multilineage hematopoietic differentiation and thus identify their novel tumor suppressor function in myeloid leukemia

CELLULAR PROCESS	nucleotide, transcription
	cell organization/biogenesis

PHYSIOLOGICAL PROCESS

text	hematopoiesis, osteogenesis

PATHWAY

metabolism

signaling

a component	protein forming heterodimers with AML1 proteins (AML1, AML1B, AML2, AML3) and increasing their affinity for DNA (core) recognition sequence
	dimerizing with either of the CBF alpha subunits
	heterodimerizing with RUNX2 for osteoblasts and chondrocytes differentiation (heterodimeric transcription factor PEBP2/CBF is composed of a DNA-binding subunit, RUNX1, and a non-DNA-binding subunit, CBFB)

INTERACTION

DNA	binding to the core site of various enhancers and promoters,including T cell receptor gene enhancers,TRIM10, etc...

RNA

small molecule

protein	interacting with FLNA
	binding to ELOB/ELOC induces conformational changes in HIV1 Vif, facilitating its interaction with CBFB and consequent interaction with CUL5
	RUNX2/CBFB regulates the proliferation and differentiation of chondrocytes and osteoblast-lineage cells by activating multiple signaling pathways and via their reciprocal regulation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AMLM4EO

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       protein chimeric chimeric fusion protein with MYH11 in acute myeloid leukemia with good prognosis constitutional     --over   in DMD with milder phenotype tumoral   inversion     in acute myeloid leukemia (AML-M4Eo) with inversion inv(16)(p13;q22) or t(16;16)(p13;q22)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS