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Gene id 865
Gene Summary     SNPs    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary

Gene Symbol CBFB   Gene   UCSC   Ensembl
Aliases PEBP2B
Gene name core-binding factor subunit beta
Alternate names core-binding factor subunit beta, CBF-beta, PEA2-beta, PEBP2-beta, SL3-3 enhancer factor 1 beta subunit, SL3-3 enhancer factor 1 subunit beta, SL3/AKV core-binding factor beta subunit, core-binding factor beta subunit, polyomavirus enhancer binding protein 2, bet,
Gene location 16q22.1 (67029148: 67101057)     Exons: 6     NC_000016.10
Gene summary(Entrez) 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
OMIM 121360

SNPs


rs17431717

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.120474407G>A
NC_000012.11   g.120912210G>A|SEQ=[G/A]|GENE=DYNLL1

rs10849753

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.120473010C>A
NC_000012.12   g.120473010C>T
NC_000012.11   g.120910813C>A
NC_000012.11   g.120910813C>T|SEQ=[C/A/T]|GENE=DYNLL1

Protein Summary

Protein general information Q13951  

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)

Length: 182  Mass: 21508

Sequence MPRVVPDQRSKFENEEFFRKLSRECEIKYTGFRDRPHEERQARFQNACRDGRSEIAFVATGTNLSLQFFPASWQG
EQRQTPSREYVDLEREAGKVYLKAPMILNGVCVIWKGWIDLQRLDGMGCLEFDEERAQQEDALAQQAFEEARRRT
REFEDRDRSHREEMEVRVSQLLAVTGKKTTRP
Structural information
Interpro:  IPR003417  IPR036552  

PDB:  
1CL3 1E50 1H9D 4N9F 6NIL 6P59
PDBsum:   1CL3 1E50 1H9D 4N9F 6NIL 6P59

DIP:  

36772

MINT:  
STRING:   ENSP00000415151
Other Databases GeneCards:  CBFB  Malacards:  CBFB

Gene ontology

Expand All | Collapse All

GO accessionTerm nameEvidence codeGo category
GO:0000209 protein polyubiquitinatio
n
IMP biological process
GO:0043565 sequence-specific DNA bin
ding
IBA contributes to
GO:0006357 regulation of transcripti
on by RNA polymerase II
IBA biological process
GO:0003677 DNA binding
IBA molecular function
GO:0016513 core-binding factor compl
ex
IBA cellular component
GO:0005634 nucleus
IBA cellular component
GO:0003713 transcription coactivator
activity
IBA molecular function
GO:0003712 transcription coregulator
activity
IBA molecular function
GO:0043378 positive regulation of CD
8-positive, alpha-beta T
cell differentiation
ISS biological process
GO:0043371 negative regulation of CD
4-positive, alpha-beta T
cell differentiation
ISS biological process
GO:0043565 sequence-specific DNA bin
ding
ISS contributes to
GO:0000122 negative regulation of tr
anscription by RNA polyme
rase II
ISS biological process
GO:0016513 core-binding factor compl
ex
TAS cellular component
GO:0003713 transcription coactivator
activity
IEA molecular function
GO:0005634 nucleus
IEA cellular component
GO:0005634 nucleus
IEA cellular component
GO:0006366 transcription by RNA poly
merase II
TAS biological process
GO:0030111 regulation of Wnt signali
ng pathway
TAS biological process
GO:0045637 regulation of myeloid cel
l differentiation
TAS biological process
GO:2000810 regulation of bicellular
tight junction assembly
TAS biological process
GO:0001959 regulation of cytokine-me
diated signaling pathway
TAS biological process
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
TAS biological process
GO:0033146 regulation of intracellul
ar estrogen receptor sign
aling pathway
TAS biological process
GO:0045589 regulation of regulatory
T cell differentiation
TAS biological process
GO:0045616 regulation of keratinocyt
e differentiation
TAS biological process
GO:0045652 regulation of megakaryocy
te differentiation
TAS biological process
GO:0050855 regulation of B cell rece
ptor signaling pathway
TAS biological process
GO:1902036 regulation of hematopoiet
ic stem cell differentiat
ion
TAS biological process
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0001503 ossification
IEA biological process
GO:0001649 osteoblast differentiatio
n
IEA biological process
GO:0030098 lymphocyte differentiatio
n
IEA biological process
GO:0030099 myeloid cell differentiat
ion
IEA biological process
GO:0043371 negative regulation of CD
4-positive, alpha-beta T
cell differentiation
IEA biological process
GO:0043378 positive regulation of CD
8-positive, alpha-beta T
cell differentiation
IEA biological process
GO:0043565 sequence-specific DNA bin
ding
IEA molecular function
GO:0060216 definitive hemopoiesis
IEA biological process
GO:0003677 DNA binding
IEA molecular function
GO:0000122 negative regulation of tr
anscription by RNA polyme
rase II
IEA biological process
GO:0005634 nucleus
IEA cellular component
GO:0045944 positive regulation of tr
anscription by RNA polyme
rase II
IEA biological process
GO:0048469 cell maturation
IEA biological process
GO:0005634 nucleus
IEA cellular component
GO:0005515 protein binding
IPI molecular function
GO:0016020 membrane
HDA cellular component
GO:0005515 protein binding
IPI molecular function
Associated diseases References
Spermatogenic defects MIK: 31037746
Teratozoospermia MIK: 17327269
Unexplained infertility MIK: 25753583

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia

13 (5 controls,
8 cases)
Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
17327269 Teratozoos
permia

19 (6 controls
, 13 cases)
Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
31037746 Spermatoge
nic defect
s

16 (1 control,
15 cases)
Male infertility GSE6023 analyzed using GEO2R
Show abstract
25753583 Unexplaine
d infertil
ity

46 (17 fertile
men, 29 male pa
tients)
Male infertility Microarray
Show abstract