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MYBL2 (v-myb myeloblastosis viral oncogene homolog (avian)-like 2)

Identity

Other namesB-MYB
B-Myb
BMYB
MGC15600
OTTHUMP00000031719
HGNC (Hugo) MYBL2
LocusID (NCBI) 4605
Location 20q13.12
Location_base_pair Starts at 42295659 and ends at 42345136 bp from pter ( according to hg19-Feb_2009)  [Mapping]

DNA/RNA

 
  red boxes: untranslated regions; green boxes: coding regions.
Description 49,415 bases DNA with 14 exons.
Transcription 2,731 bases mRNA.

Protein

 
  R1, R2 and R3 form DNA-binding domain, TA - transactivation domain, CR - conserved region (the area of homology with c-Myb), RD - regulatory domain.
Description 704 amino acids, 93kDa protein.
R1, R2, R3 - three repeats 50 amino acids long, R2 and R3 contain HTH (helix-turn-helix) motives with unconventional turns required for DNA-binding activity, R1 serves as a DNA/protein complex stabilizer; TA contains acidic amino acids and is responsible for transcriptional activation; RD is responsible for repression of transactivation function of B-MYB.
Expression Widely expressed, expression is very high in proliferative cells, embryonic cells, haematopoietic progenitor cells.
Localisation Nucleus.
Function Transcription factor required for cell proliferation, cell cycle progression, chromosomal stability and differentiation. B-MYB knockout mice die at E4.5-E6.5 due to early developmental arrest.
Homology B-MYB is a member of MYB transcription factors family, which includes C-MYB and A-MYB, with high homology within TA and RD regions. DNA-binding domain is almost identical with that of A-MYB and C-MYB and conserved between mouse, human, chicken and drosophila.

Implicated in

Entity Neuroblastoma
Prognosis Overexpression is thought to be associated with a poor outcome of the disease.
Oncogenesis Was reported to be necessary for survival and differentiation of neuroblastoma cells.
  
Entity Hepatocellular carcinoma (HCC)
Oncogenesis B-MYB is reported to be a probable target of E2F1 transcription factor, which is dramatically overexpressed in HCC. There is a clear correlation between expression level of these two proteins. B-MYB overexpression in HCC causes the deregulation of apoptosis and cell cycle.
  
Entity Various cancer
Disease Amplification of B-MYB was described in breast carcinomas, liver carcinomas, ovarian carcinomas and in cutaneous T lymphoma. B-MYB expression was shown also to be increased in prostate and testicular malignancies. Moreover, B-MYB expression is notably increased in metastatic compared to localised prostate tumours.
The presence of B-MYB polymorphisms rs2070235 and rs11556379 is associated with a significant reduction of cancer risk.
Oncogenesis B-MYB overexpression may result in promotion of cancer cells survival and proliferation.
Polimorphisms can induce changes in protein conformation and therefore may in part deactivate B-MYB functions.
  

External links

Nomenclature
HGNC (Hugo)MYBL2   7548
Cards
AtlasMYBL2ID41469ch20q13
Entrez_Gene (NCBI)MYBL2  4605  v-myb avian myeloblastosis viral oncogene homolog-like 2
GeneCards (Weizmann)MYBL2
Ensembl hg19 (Hinxton)ENSG00000101057 [Gene_View]  chr20:42295659-42345136 [Contig_View]  MYBL2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000101057 [Gene_View]  chr20:42295659-42345136 [Contig_View]  MYBL2 [Vega]
ICGC DataPortalENSG00000101057
cBioPortalMYBL2
AceView (NCBI)MYBL2
Genatlas (Paris)MYBL2
WikiGenes4605
SOURCE (Princeton)MYBL2
Genomic and cartography
GoldenPath hg19 (UCSC)MYBL2  -     chr20:42295659-42345136 +  20q13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MYBL2  -     20q13.1   [Description]    (hg38-Dec_2013)
EnsemblMYBL2 - 20q13.1 [CytoView hg19]  MYBL2 - 20q13.1 [CytoView hg38]
Mapping of homologs : NCBIMYBL2 [Mapview hg19]  MYBL2 [Mapview hg38]
OMIM601415   
Gene and transcription
Genbank (Entrez)AA586734 AK223482 AK303249 AK314791 BC007585
RefSeq transcript (Entrez)NM_001278610 NM_002466
RefSeq genomic (Entrez)AC_000152 NC_000020 NC_018931 NT_011362 NW_001838666 NW_004929418
Consensus coding sequences : CCDS (NCBI)MYBL2
Cluster EST : UnigeneHs.179718 [ NCBI ]
CGAP (NCI)Hs.179718
Alternative Splicing : Fast-db (Paris)GSHG0018761
Alternative Splicing GalleryENSG00000101057
Gene ExpressionMYBL2 [ NCBI-GEO ]     MYBL2 [ SEEK ]   MYBL2 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP10244 (Uniprot)
NextProtP10244  [Medical]
With graphics : InterProP10244
Splice isoforms : SwissVarP10244 (Swissvar)
Domaine pattern : Prosite (Expaxy)HTH_MYB (PS51294)   
Domains : Interpro (EBI)C-myb_C    Homeodomain-like    Myb_dom    MYBL2    SANT/Myb   
Related proteins : CluSTrP10244
Domain families : Pfam (Sanger)Cmyb_C (PF09316)    Myb_DNA-binding (PF00249)   
Domain families : Pfam (NCBI)pfam09316    pfam00249   
Domain families : Smart (EMBL)SANT (SM00717)  
DMDM Disease mutations4605
Blocks (Seattle)P10244
Human Protein AtlasENSG00000101057
Peptide AtlasP10244
HPRD03247
IPIIPI00019993   IPI01015657   
Protein Interaction databases
DIP (DOE-UCLA)P10244
IntAct (EBI)P10244
FunCoupENSG00000101057
BioGRIDMYBL2
IntegromeDBMYBL2
STRING (EMBL)MYBL2
Ontologies - Pathways
QuickGOP10244
Ontology : AmiGOG2/M transition of mitotic cell cycle  mitotic cell cycle  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription  chromatin binding  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  nucleoplasm  nucleolus  transcription, DNA-templated  Myb complex  positive regulation of transcription from RNA polymerase II promoter  regulation of cell cycle  spindle assembly involved in mitosis  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  mitotic cell cycle  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription  chromatin binding  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  nucleoplasm  nucleolus  transcription, DNA-templated  Myb complex  positive regulation of transcription from RNA polymerase II promoter  regulation of cell cycle  spindle assembly involved in mitosis  
Pathways : KEGGHTLV-I infection   
REACTOMEP10244 [protein]
REACTOME PathwaysREACT_115566 Cell Cycle [pathway]
Protein Interaction DatabaseMYBL2
DoCM (Curated mutations)MYBL2
Wikipedia pathwaysMYBL2
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerMYBL2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYBL2
dbVarMYBL2
ClinVarMYBL2
1000_GenomesMYBL2 
Exome Variant ServerMYBL2
SNP (GeneSNP Utah)MYBL2
SNP : HGBaseMYBL2
Genetic variants : HAPMAPMYBL2
Genomic VariantsMYBL2  MYBL2 [DGVbeta]
Mutations
ICGC Data PortalENSG00000101057 
Somatic Mutations in Cancer : COSMICMYBL2 
CONAN: Copy Number AnalysisMYBL2 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)20:42295659-42345136
Mutations and Diseases : HGMDMYBL2
OMIM601415   
MedgenMYBL2
NextProtP10244 [Medical]
GENETestsMYBL2
Disease Genetic AssociationMYBL2
Huge Navigator MYBL2 [HugePedia]  MYBL2 [HugeCancerGEM]
snp3D : Map Gene to Disease4605
DGIdb (Drug Gene Interaction db)MYBL2
General knowledge
Homologs : HomoloGeneMYBL2
Homology/Alignments : Family Browser (UCSC)MYBL2
Phylogenetic Trees/Animal Genes : TreeFamMYBL2
Chemical/Protein Interactions : CTD4605
Chemical/Pharm GKB GenePA31348
Clinical trialMYBL2
Cancer Resource (Charite)ENSG00000101057
Other databases
Probes
Litterature
PubMed84 Pubmed reference(s) in Entrez
CoreMineMYBL2
GoPubMedMYBL2
iHOPMYBL2

Bibliography

Requirement of b-myb function for survival and differentiative potential of human neuroblastoma cells.
Raschell G, Negroni A, Sala A, Pucci S, Romeo A, Calabretta B.
J Biol Chem. 1995 Apr 14;270(15):8540-5.
PMID 7721753
 
Mybl2 (Bmyb) maps to mouse chromosome 2 and human chromosome 20q13.1.
Noben-Trauth K, Copeland NG, Gilbert DJ, Jenkins NA, Sonoda G, Testa JR, Klempnauer KH.
Genomics. 1996 Aug 1;35(3):610-2.
PMID 8812502
 
The myb gene family in cell growth, differentiation and apoptosis.
Oh IH, Reddy EP.
Oncogene. 1999 May 13;18(19):3017-33.(Review).
PMID 10378697
 
Expression of B-myb in neuroblastoma tumors is a poor prognostic factor independent from MYCN amplification.
Raschella G, Cesi V, Amendola R, Negroni A, Tanno B, Altavista P, Tonni GP, De Bernardi B, Calabretta B.
Cancer Res. 1999 Jul 15;59(14):3365-8.
PMID 10416595
 
B-Myb protein in cellular proliferation, transcription control, and cancer: latest developments.
Sala A, Watson R.
J Cell Physiol. 1999 Jun;179(3):245-50.(Review).
PMID 10228942
 
B-myb is required for inner cell mass formation at an early stage of development.
Tanaka Y, Patestos NP, Maekawa T, Ishii S.
J Biol Chem. 1999 Oct 1;274(40):28067-70.
PMID 10497154
 
B-MYB is hypophosphorylated and resistant to degradation in neuroblastoma: implications for cell survival.
Schwab R, Caccamo A, Bettuzzi S, Anderson J, Sala A.
Blood Cells Mol Dis 2007; 39(3):263-71. Epub 2007 Jun 27.
PMID 17588787
 
Activation of B-Myb by E2F1 in hepatocellular carcinoma.
Nakajima T, Yasui K, Zen K, Inagaki Y, Fujii H, Minami M, Tanaka S, Taniwaki M, Itoh Y, Arii S, Inazawa J, Okanoue T.
Hepatol Res. 2008; 38(9): 886-95.
PMID 18624722
 
Isolation and functional assessment of common, polymorphic variants of the B-MYB proto-oncogene associated with a reduced cancer risk.
Schwab R, Bussolari R, Corvetta D, Chayka O, Santilli G, Kwok JM-M, Amorotti GF, Tonini P, Iacoviello L, Bertorelle R, Menin C, Hubank M, Calabretta B, Sala A.
Oncogene 2008; 27(20): 2929-33.
PMID 18026132
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written10-2008Olesya Chayka, Arturo Sala
Institute of Child Health Molecular Haematology and Cancer Biology Unit 30 Guilford street London, WC1N 1EH UK

Citation

This paper should be referenced as such :
Chayka, O ; Sala, A
MYBL2 (v-myb myeloblastosis viral oncogene homolog (avian)-like 2)
Atlas Genet Cytogenet Oncol Haematol. 2009;13(9):652-653.
Free online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/MYBL2ID41469ch20q13.html

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indexed on : Sun Dec 21 03:10:58 CET 2014

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