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MIB2 (mindbomb homolog 2 (Drosophila))

Written2008-01Tamotsu Takeuchi
Department of Pathology, Kochi Medical School, Kohasu, Okou, Nankoku, Kochi 783 8505, Japan

(Note : for Links provided by Atlas : click)

Identity

Alias_namesZZANK1
zinc finger, ZZ type with ankyrin repeat domain 1
mindbomb homolog 2 (Drosophila)
Alias_symbol (synonym)skeletrophin
ZZZ5
FLJ39787
Other aliasFLJ20648
Skeletrophin
novelzin
HGNC (Hugo) MIB2
LocusID (NCBI) 142678
Atlas_Id 44179
Location 1p36.33  [Link to chromosome band 1p36]
Location_base_pair Starts at 1615415 and ends at 1630610 bp from pter ( according to hg19-Feb_2009)  [Mapping MIB2.png]
Local_order ATAD3A (ATPase family, AAA domain containing 3B), is more telomeric, CDC2L2 (cell division cycle 2-like 2) is more centromeric.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
FNDC11 (20q13.33) / MIB2 (1p36.33)MIB2 (1p36.33) / LINC00235 (16p13.3)MIB2 (1p36.33) / PLEKHN1 (1p36.33)
MIB2 (1p36.33) / PSMD3 (17q21.1)
Note Orientation: plus strand.

DNA/RNA

Note There are at least six alternative splicing forms.
 
  Genomic structure of Mib2/skeletrophin
Description 20 Exons spanning 14kb on 1p36.33.

Protein

Note The number of amino acids are varied in each splicing form.
 
  Schematic illustrating of mib2/skeletrophin.
Expression Human mib2/skeletrophin is strongly expressed in adult brain, heart and skeletal muscles.
Localisation Cytoplasmic
Function Ubiquitin ligase to cytoplasmic domain of Notch ligands and NMDA receptor GRIN2B/NR2B subunit. Putative positive regulation of I-kappaB kinase/NF-kappaB cascade.
Homology The protein structure of mib2/skeletrophin is closely related to MIB1 (mind bomb-1 homolog).

Implicated in

Note
  
Entity Multiple myeloma, especially at advanced stage with osteolytic lesion.
Oncogenesis Putative oncogenic factor for multiple myeloma thorough bone marrow microenvironments. In multiple myeloma, Mib2/skeletrophin and its substrates, Jagged-1 and Jagged-2, are both overexpressed in bone marrow microenvironments. Ligands-dependent Notch activation is occurred by direct cell-cell interaction between multiple myeloma cells and bone marrow stromal cells and contribute the myeloma niche, which is known as microenvironment suitable for myelomagenesis.
  

Bibliography

Mind bomb-2 is an E3 ligase that ubiquitinates the N-methyl-D-aspartate receptor NR2B subunit in a phosphorylation-dependent manner.
Jurd R, Thornton C, Wang J, Luong K, Phamluong K, Kharazia V, Gibb SL, Ron D
The Journal of biological chemistry. 2008 ; 283 (1) : 301-310.
PMID 17962190
 
Mind bomb-2 is an E3 ligase for Notch ligand.
Koo BK, Yoon KJ, Yoo KW, Lim HS, Song R, So JH, Kim CH, Kong YY
The Journal of biological chemistry. 2005 ; 280 (23) : 22335-22342.
PMID 15824097
 
A ubiquitin ligase, skeletrophin, is a negative regulator of melanoma invasion.
Takeuchi T, Adachi Y, Sonobe H, Furihata M, Ohtsuki Y
Oncogene. 2006 ; 25 (53) : 7059-7069.
PMID 16715130
 

Citation

This paper should be referenced as such :
Takeuchi, T
MIB2 (mindbomb homolog 2 (Drosophila))
Atlas Genet Cytogenet Oncol Haematol. 2008;12(5):373-374.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/MIB2ID44179ch1p36.html


External links

Nomenclature
HGNC (Hugo)MIB2   30577
Cards
AtlasMIB2ID44179ch1p36
Entrez_Gene (NCBI)MIB2  142678  mindbomb E3 ubiquitin protein ligase 2
AliasesZZANK1; ZZZ5
GeneCards (Weizmann)MIB2
Ensembl hg19 (Hinxton)ENSG00000197530 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197530 [Gene_View]  chr1:1615415-1630610 [Contig_View]  MIB2 [Vega]
ICGC DataPortalENSG00000197530
TCGA cBioPortalMIB2
AceView (NCBI)MIB2
Genatlas (Paris)MIB2
WikiGenes142678
SOURCE (Princeton)MIB2
Genetics Home Reference (NIH)MIB2
Genomic and cartography
GoldenPath hg38 (UCSC)MIB2  -     chr1:1615415-1630610 +  1p36.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MIB2  -     1p36.33   [Description]    (hg19-Feb_2009)
EnsemblMIB2 - 1p36.33 [CytoView hg19]  MIB2 - 1p36.33 [CytoView hg38]
Mapping of homologs : NCBIMIB2 [Mapview hg19]  MIB2 [Mapview hg38]
OMIM611141   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001170686 NM_001170687 NM_001170688 NM_001170689 NM_080875
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MIB2
Cluster EST : UnigeneHs.593430 [ NCBI ]
CGAP (NCI)Hs.593430
Alternative Splicing GalleryENSG00000197530
Gene ExpressionMIB2 [ NCBI-GEO ]   MIB2 [ EBI - ARRAY_EXPRESS ]   MIB2 [ SEEK ]   MIB2 [ MEM ]
Gene Expression Viewer (FireBrowse)MIB2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)142678
GTEX Portal (Tissue expression)MIB2
Human Protein AtlasENSG00000197530-MIB2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96AX9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96AX9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96AX9
Splice isoforms : SwissVarQ96AX9
Catalytic activity : Enzyme2.3.2.27 [ Enzyme-Expasy ]   2.3.2.272.3.2.27 [ IntEnz-EBI ]   2.3.2.27 [ BRENDA ]   2.3.2.27 [ KEGG ]   
PhosPhoSitePlusQ96AX9
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    MIB_HERC2 (PS51416)    ZF_RING_2 (PS50089)    ZF_ZZ_1 (PS01357)    ZF_ZZ_2 (PS50135)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    Mib_Herc2    Znf_RING    Znf_RING/FYVE/PHD    Znf_ZZ   
Domain families : Pfam (Sanger)Ank_2 (PF12796)    MIB_HERC2 (PF06701)    ZZ (PF00569)   
Domain families : Pfam (NCBI)pfam12796    pfam06701    pfam00569   
Domain families : Smart (EMBL)ANK (SM00248)  RING (SM00184)  ZnF_ZZ (SM00291)  
Conserved Domain (NCBI)MIB2
DMDM Disease mutations142678
Blocks (Seattle)MIB2
SuperfamilyQ96AX9
Human Protein Atlas [tissue]ENSG00000197530-MIB2 [tissue]
Peptide AtlasQ96AX9
HPRD15905
IPIIPI00477349   IPI00414714   IPI00607637   IPI00914032   IPI00978649   IPI00059796   IPI00386276   IPI00658021   IPI00914066   IPI00383255   IPI00967432   IPI00964199   IPI00966136   IPI00967768   IPI00965272   IPI00964007   IPI00965080   IPI00914018   
Protein Interaction databases
DIP (DOE-UCLA)Q96AX9
IntAct (EBI)Q96AX9
FunCoupENSG00000197530
BioGRIDMIB2
STRING (EMBL)MIB2
ZODIACMIB2
Ontologies - Pathways
QuickGOQ96AX9
Ontology : AmiGOubiquitin ligase complex  protein polyubiquitination  actin binding  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  signal transducer activity  protein binding  cytoplasm  early endosome  cytosol  Notch signaling pathway  zinc ion binding  positive regulation of I-kappaB kinase/NF-kappaB signaling  ubiquitin protein ligase activity  
Ontology : EGO-EBIubiquitin ligase complex  protein polyubiquitination  actin binding  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  signal transducer activity  protein binding  cytoplasm  early endosome  cytosol  Notch signaling pathway  zinc ion binding  positive regulation of I-kappaB kinase/NF-kappaB signaling  ubiquitin protein ligase activity  
REACTOMEQ96AX9 [protein]
REACTOME PathwaysR-HSA-983168 [pathway]   
NDEx NetworkMIB2
Atlas of Cancer Signalling NetworkMIB2
Wikipedia pathwaysMIB2
Orthology - Evolution
OrthoDB142678
GeneTree (enSembl)ENSG00000197530
Phylogenetic Trees/Animal Genes : TreeFamMIB2
HOVERGENQ96AX9
HOGENOMQ96AX9
Homologs : HomoloGeneMIB2
Homology/Alignments : Family Browser (UCSC)MIB2
Gene fusions - Rearrangements
Fusion : MitelmanMIB2/PLEKHN1 [1p36.33/1p36.33]  
Fusion: TCGA_MDACCMIB2 1p36.33 PLEKHN1 1p36.33 BRCA
Fusion: TCGA_MDACCMIB2 1p36.33 RP4-761I2.2 BRCA
Fusion: TCGA_MDACCRP4-761I2.2 MIB2 1p36.33 BRCA
Tumor Fusion PortalMIB2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMIB2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MIB2
dbVarMIB2
ClinVarMIB2
1000_GenomesMIB2 
Exome Variant ServerMIB2
ExAC (Exome Aggregation Consortium)ENSG00000197530
GNOMAD BrowserENSG00000197530
Genetic variants : HAPMAP142678
Genomic Variants (DGV)MIB2 [DGVbeta]
DECIPHERMIB2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMIB2 
Mutations
ICGC Data PortalMIB2 
TCGA Data PortalMIB2 
Broad Tumor PortalMIB2
OASIS PortalMIB2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMIB2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMIB2
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
BioMutasearch MIB2
DgiDB (Drug Gene Interaction Database)MIB2
DoCM (Curated mutations)MIB2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MIB2 (select a term)
intoGenMIB2
NCG5 (London)MIB2
Cancer3DMIB2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611141   
Orphanet
DisGeNETMIB2
MedgenMIB2
Genetic Testing Registry MIB2
NextProtQ96AX9 [Medical]
TSGene142678
GENETestsMIB2
Target ValidationMIB2
Huge Navigator MIB2 [HugePedia]
snp3D : Map Gene to Disease142678
BioCentury BCIQMIB2
ClinGenMIB2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD142678
Chemical/Pharm GKB GenePA134924284
Clinical trialMIB2
Miscellaneous
canSAR (ICR)MIB2 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMIB2
EVEXMIB2
GoPubMedMIB2
iHOPMIB2
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:55:37 CET 2017

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