InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: CBFB

Summary

InnateDB Gene

IDBG-35939.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CBFB

Gene Name

core-binding factor, beta subunit

Synonyms

PEBP2B

Species

Homo sapiens

Ensembl Gene

ENSG00000067955

Encoded Proteins

IDBP-35941

core-binding factor, beta subunit

IDBP-378824

core-binding factor, beta subunit

IDBP-753494

IDBP-748185

IDBP-753481

IDBP-751713

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 16:67029116-67101058

Strand

Forward strand

Band

q22.1

Transcripts

ENST00000290858	ENSP00000290858
ENST00000412916	ENSP00000415151
ENST00000565389	ENSP00000462932
ENST00000563939	ENSP00000462148
ENST00000566281
ENST00000561924	ENSP00000462273
ENST00000568858
ENST00000567947
ENST00000564034	ENSP00000456637

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.

Experimentally validated
Total	19 [view]
Protein-Protein	19 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	7 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0003713	transcription coactivator activity
GO:0005515	protein binding

Biological Process

GO:0001503	ossification
GO:0001649	osteoblast differentiation
GO:0006366	transcription from RNA polymerase II promoter
GO:0030098	lymphocyte differentiation
GO:0030099	myeloid cell differentiation
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048469	cell maturation
GO:0060216	definitive hemopoiesis
GO:2001141	regulation of RNA biosynthetic process

Cellular Component

GO:0005575	cellular_component
GO:0005634	nucleus
GO:0016020	membrane

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000031885

View Gene Order

ENSBTAG00000016103

Not yet available

Pathways

NETPATH

REACTOME

KEGG

INOH

PID NCI

atf2_pathway

ATF-2 transcription factor network

ap1_pathway

AP-1 transcription factor network

smad2_3nuclearpathway

Regulation of nuclear SMAD2/3 signaling

Cross-References

SwissProt

TrEMBL

J3KRT0 J3KS23

UniProt Splice Variant

Entrez Gene

865

UniGene

Hs.460988 Hs.605312

RefSeq

NM_001755 NM_022845

HUGO

HGNC:1539

OMIM

121360

CCDS

CCDS10827 CCDS45508

HPRD

00418

IMGT

EMBL

AC009084 AC074143

GenPept

RNA Seq Atlas

865