ENSG00000067955


Homo sapiens

Features
Gene ID: ENSG00000067955
  
Biological name :CBFB
  
Synonyms : CBFB / core-binding factor beta subunit / Q13951
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: 1
Band: q22.1
Gene start: 67029116
Gene end: 67101058
  
Corresponding Affymetrix probe sets: 202370_s_at (Human Genome U133 Plus 2.0 Array)   206788_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000462273
Ensembl peptide - ENSP00000462148
Ensembl peptide - ENSP00000462932
Ensembl peptide - ENSP00000290858
Ensembl peptide - ENSP00000415151
Ensembl peptide - ENSP00000456637
NCBI entrez gene - 865     See in Manteia.
OMIM - 121360
RefSeq - XM_017023813
RefSeq - NM_001755
RefSeq - NM_022845
RefSeq - XM_005256212
RefSeq - XM_006721321
RefSeq - XM_017023812
RefSeq Peptide - NP_074036
RefSeq Peptide - NP_001746
swissprot - J3KRT0
swissprot - J3KS23
swissprot - J3KTD8
swissprot - A0A024R6X2
swissprot - Q13951
swissprot - H3BSC0
Ensembl - ENSG00000067955
  
Related genetic diseases (OMIM): 601626 - Myeloid leukemia, acute, M4/M4Eo subtype, somatic, 601626
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cbfbENSDARG00000040917Danio rerio
 CBFBENSGALG00000003169Gallus gallus
 CbfbENSMUSG00000031885Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR003417  Core-binding factor, beta subunit
 IPR036552  Core-binding factor, beta subunit superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000209 protein polyubiquitination IMP
 biological_processGO:0001503 ossification IEA
 biological_processGO:0001649 osteoblast differentiation IEA
 biological_processGO:0001959 regulation of cytokine-mediated signaling pathway TAS
 biological_processGO:0006366 transcription by RNA polymerase II TAS
 biological_processGO:0006367 transcription initiation from RNA polymerase II promoter TAS
 biological_processGO:0030098 lymphocyte differentiation IEA
 biological_processGO:0030099 myeloid cell differentiation IEA
 biological_processGO:0030111 regulation of Wnt signaling pathway TAS
 biological_processGO:0033146 regulation of intracellular estrogen receptor signaling pathway TAS
 biological_processGO:0045589 regulation of regulatory T cell differentiation TAS
 biological_processGO:0045616 regulation of keratinocyte differentiation TAS
 biological_processGO:0045637 regulation of myeloid cell differentiation TAS
 biological_processGO:0045652 regulation of megakaryocyte differentiation TAS
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048469 cell maturation IEA
 biological_processGO:0050855 regulation of B cell receptor signaling pathway TAS
 biological_processGO:0060216 definitive hemopoiesis IEA
 biological_processGO:1902036 regulation of hematopoietic stem cell differentiation TAS
 biological_processGO:1903506 regulation of nucleic acid-templated transcription IEA
 biological_processGO:2000810 regulation of bicellular tight junction assembly TAS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0016020 membrane HDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity TAS
 molecular_functionGO:0003713 transcription coactivator activity IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
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 chondrocyte maturation
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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100030 MAPK1 / P28482 / mitogen-activated protein kinase 1  / reaction
 ENSG00000110092 CCND1 / P24385 / cyclin D1  / complex / reaction
 ENSG00000005339 CREBBP / Q92793 / CREB binding protein  / complex / reaction
 ENSG00000132475 H3F3B / P84243 / H3 histone family member 3B  / complex / reaction
 ENSG00000135446 CDK4 / P11802 / cyclin dependent kinase 4  / reaction
 ENSG00000102882 MAPK3 / P27361 / mitogen-activated protein kinase 3  / reaction
 ENSG00000134057 CCNB1 / P14635 / cyclin B1  / reaction
 ENSG00000091831 ESR1 / P03372 / estrogen receptor 1  / complex / reaction
 ENSG00000120690 ELF1 / P32519 / E74 like ETS transcription factor 1  / complex / reaction
 ENSG00000173473 Q92922 / SMARCC1 / SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1  / complex / reaction
 ENSG00000099956 Q12824 / SMARCB1 / SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1  / complex / reaction
 ENSG00000105810 CDK6 / Q00534 / cyclin dependent kinase 6  / complex / reaction
 ENSG00000139613 Q8TAQ2 / SMARCC2 / SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2  / complex / reaction
 ENSG00000100393 EP300 / Q09472 / E1A binding protein p300  / complex / reaction
 ENSG00000137693 YAP1 / P46937 / Yes associated protein 1  / complex / reaction
 ENSG00000159216 RUNX1 / Q01196 / runt related transcription factor 1  / complex / reaction
 ENSG00000020633 RUNX3 / Q13761 / runt related transcription factor 3  / complex / reaction
 ENSG00000170365 SMAD1 / Q15797 / SMAD family member 1  / complex / reaction
 ENSG00000080503 P51531 / SMARCA2 / SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2  / complex / reaction
 ENSG00000170374 SP7 / Q8TDD2 / Sp7 transcription factor  / complex / reaction
 ENSG00000141646 SMAD4 / Q13485 / SMAD family member 4  / complex / reaction
 ENSG00000196092 PAX5 / Q02548 / paired box 5  / complex / reaction
 ENSG00000124813 RUNX2 / Q13950 / runt related transcription factor 2  / complex / reaction
 ENSG00000127616 P51532 / SMARCA4 / SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4  / complex / reaction
 ENSG00000068024 HDAC4 / P56524 / histone deacetylase 4  / complex / reaction
 ENSG00000109381 ELF2 / Q15723 / E74 like ETS transcription factor 2  / complex / reaction
 ENSG00000169375 SIN3A / Q96ST3 / SIN3 transcription regulator family member A  / complex / reaction
 ENSG00000101096 NFATC2 / Q13469 / nuclear factor of activated T cells 2  / complex / reaction
 ENSG00000204256 BRD2 / P25440 / bromodomain containing 2  / complex / reaction
 ENSG00000198890 PRMT6 / Q96LA8 / protein arginine methyltransferase 6  / complex / reaction
 ENSG00000049768 FOXP3 / Q9BZS1 / forkhead box P3  / complex / reaction
 ENSG00000126457 PRMT1 / Q99873 / protein arginine methyltransferase 1  / complex / reaction
 ENSG00000170836 PPM1D / O15297 / protein phosphatase, Mg2+/Mn2+ dependent 1D  / reaction
 ENSG00000118513 MYB / P10242 / MYB proto-oncogene, transcription factor  / complex
 ENSG00000064393 HIPK2 / Q9H2X6 / homeodomain interacting protein kinase 2  / reaction
 ENSG00000170312 CDK1 / P06493 / cyclin dependent kinase 1  / reaction
 ENSG00000183598 Q71DI3 / HIST2H3D / histone cluster 2 H3 family member d  / complex / reaction
 ENSG00000142208 AKT1 / P31749 / AKT serine/threonine kinase 1  / reaction
 ENSG00000116478 HDAC1 / Q13547 / histone deacetylase 1  / complex / reaction
 ENSG00000118058 KMT2A / Q03164 / lysine methyltransferase 2A  / complex / reaction
 ENSG00000276180 P62805 / HIST1H4I / histone cluster 1 H4 family member i  / complex / reaction
 ENSG00000275714 P68431 / HIST1H3A / histone cluster 1 H3 family member a  / complex / reaction






 

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