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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MIB2 Gene

protein-coding   GIFtS: 52
GCID: GC01P001550

Mindbomb E3 Ubiquitin Protein Ligase 2

(Previous names: zinc finger, ZZ type with ankyrin repeat domain 1, mindbomb...)
(Previous symbol: ZZANK1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Mindbomb E3 Ubiquitin Protein Ligase 21 2     Mindbomb Homolog 22
ZZANK11 2 3     novelzin2
Zinc Finger, ZZ Type With Ankyrin Repeat Domain 11 2     skeletrophin2
Mind Bomb Homolog 22 3     EC 6.3.2.-3
Novel Zinc Finger Protein2 3     Novelzin3
Putative NF-Kappa-B-Activating Protein 002N2 3     SKD3
Zinc Finger ZZ Type With Ankyrin Repeat Domain Protein 12 3     Skeletrophin3
Mindbomb Homolog 2 (Drosophila)1     EC 6.3.28
ZZZ52     EC 6.3.2.138
E3 Ubiquitin-Protein Ligase MIB22     

External Ids:    HGNC: 305771   Entrez Gene: 1426782   Ensembl: ENSG000001975307   OMIM: 6111415   UniProtKB: Q96AX93   
ORGUL members:         
NONCODE14:n409082      

Export aliases for MIB2 gene to outside databases

Previous GC identifers: GC01P9N0043 GC01P001540 GC01P000824


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for MIB2 Gene: 
MIB2 (mindbomb E3 ubiquitin protein ligase 2) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with MIB2 include skin melanoma, and multiple myeloma, and among its related super-pathways are Constitutive Signaling by NOTCH1 PEST Domain Mutants and NOTCH2 Activation and Transmission of Signal to the Nucleus. GO annotations related to this gene include actin binding and signal transducer activity. An important paralog of this gene is ANKDD1A.

UniProtKB/Swiss-Prot: MIB2_HUMAN, Q96AX9
Function: E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors, which act as ligands of
Notch proteins. Positively regulates the Delta-mediated Notch signaling by ubiquitinating the intracellular
domain of Delta, leading to endocytosis of Delta receptors (By similarity)

Gene Wiki entry for MIB2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_004350.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MIB2 gene promoter:
         c-Fos   Max1   AP-1   JunB   Fra-1   FosB   GATA-1   AREB6   JunD   c-Jun   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for MIB2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MIB2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.33   Ensembl cytogenetic band:  1p36.33   HGNC cytogenetic band: 1p36.33

MIB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MIB2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P001550:  view genomic region     (about GC identifiers)

Start:
1,550,795 bp from pter      End:
1,565,990 bp from pter
Size:
15,196 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MIB2_HUMAN, Q96AX9 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase MIB2  
Size: 1013 amino acids; 109939 Da
Subunit: Interacts with actin monomer
Subcellular location: Cytoplasm. Endosome. Note=Colocalizes with endosomal compartments
Sequence caution: Sequence=AAH16490.1; Type=Erroneous initiation; Sequence=BAB82979.1; Type=Frameshift;
Positions=193, 205; Sequence=BAC03707.1; Type=Erroneous initiation; Sequence=BAC04646.1; Type=Erroneous
initiation; Sequence=BAC04752.1; Type=Erroneous initiation; Sequence=BAC04952.1; Type=Erroneous initiation;
Secondary accessions: A2AGM5 A2AGM6 B3KV93 B3KVF4 B3KXY1 B4DZ57 E9PGU1 E9PHQ1 F8WA73 J3KNZ7
Q7Z437 Q8IY62 Q8N786 Q8N897 Q8N8R2 Q8N911 Q8NB36 Q8NCY1 Q8NG59 Q8NG60 Q8NG61 Q8NI59 Q8WYN1
Alternative splicing: 14 isoforms:  Q96AX9-1   Q96AX9-2   Q96AX9-3   Q96AX9-4   Q96AX9-5   Q96AX9-10   Q96AX9-7   Q96AX9-8   
Q96AX9-9   Q96AX9-6   Q96AX9-11   Q96AX9-12   Q96AX9-13   Q96AX9-14   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MIB2: NX_Q96AX9

Explore proteomics data for MIB2 at MOPED 

Post-translational modifications:

  • UniProtKB: Ubiquitinated. Possibly via autoubiquitination (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96AX9

  • 4/12 DME Specific Peptides for MIB2 (Q96AX9) (see all 12)
     AVQRGFL  RGMRWKC  RRMKKCI  RVVRGVDW 

    MIB2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MIB2 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001164157.1  NP_001164158.1  NP_001164159.1  NP_001164160.1  NP_543151.2  

    ENSEMBL proteins: 
     ENSP00000428660   ENSP00000348081   ENSP00000428264   ENSP00000426103   ENSP00000426007  
     ENSP00000420935   ENSP00000424615   ENSP00000423221   ENSP00000367984   ENSP00000426865  
     ENSP00000426128   ENSP00000426603   ENSP00000367980   ENSP00000425032   ENSP00000427680  
     ENSP00000463504   ENSP00000464106   ENSP00000349741   ENSP00000353713   ENSP00000367982  
    Reactome Protein details: Q96AX9
    Human Recombinant Protein Products for MIB2: 
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    Novus Biologicals MIB2 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MIB2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000151ubiquitin ligase complex ----
    GO:0005768endosome IEA--
    GO:0005769early endosome ----

    MIB2 for ontologies           About GeneDecksing



    MIB2 Antibody Products: 
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    Abcam antibodies for MIB2
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    LSBio Antibodies in human, mouse, rat for MIB2 

    Assay Products for MIB2: 
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    Cloud-Clone Corp. CLIAs for MIB2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ANKRD: Ankyrin repeat domain containing
    ZZZ: Zinc fingers, ZZ-type

    5/6 InterPro protein domains (see all 6):
     IPR001841 Znf_RING
     IPR013083 Znf_RING/FYVE/PHD
     IPR002110 Ankyrin_rpt
     IPR010606 Mib_Herc2
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q96AX9

    ProtoNet protein and cluster: Q96AX9

    2 Blocks protein domains:
    IPB000433 Zn-finger
    IPB001841 Zn-finger


    UniProtKB/Swiss-Prot: MIB2_HUMAN, Q96AX9
    Similarity: Contains 9 ANK repeats
    Similarity: Contains 2 MIB/HERC2 domains
    Similarity: Contains 2 RING-type zinc fingers
    Similarity: Contains 1 ZZ-type zinc finger


    MIB2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MIB2_HUMAN, Q96AX9
    Function: E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors, which act as ligands of
    Notch proteins. Positively regulates the Delta-mediated Notch signaling by ubiquitinating the intracellular
    domain of Delta, leading to endocytosis of Delta receptors (By similarity)
    Induction: Down-regulated in many primary skin melanomas. Treatment with a demethylating agent,
    5'-aza-2-deoxycytidine, restores expression, suggesting that down-regulation is the result of methylation of the
    gene

         Enzyme Numbers (IUBMB): EC 6.3.2.-1 EC 6.3.22 EC 6.3.2.132

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0004842ubiquitin-protein ligase activity IEA--
    GO:0004871signal transducer activity IMP12761501
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IEA--
         
    MIB2 for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Mib2):
     behavior/neurological  growth/size  homeostasis/metabolism  limbs/digits/tail  mortality/aging 
     nervous system  normal  skeleton  vision/eye 

    MIB2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mib2tm1Art for MIB2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MIB2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MIB2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MIB2 
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    miRNA
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MIB2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MIB2 About                                                                                                See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant
    Constitutive Signaling by NOTCH1 PEST Domain Mutants0.89
    FBXW7 Mutants and NOTCH1 in Cancer0.79
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants0.89
    Signaling by NOTCH1 HD Domain Mutants in Cancer0.79
    Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant0.79
    Signaling by NOTCH1 in Cancer0.79
    Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH10.79
    2NOTCH2 intracellular domain regulates transcription
    Signaling by NOTCH20.66
    Activated NOTCH1 Transmits Signal to the Nucleus0.59
    NOTCH2 Activation and Transmission of Signal to the Nucleus0.66
    3Receptor-ligand binding initiates the second proteolytic cleavage of Notch receptor
    Constitutive Signaling by NOTCH1 HD Domain Mutants0.61
    4Signaling by GPCR
    Signal Transduction0.55
    5Disease
    Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/16        Reactome Pathways for MIB2 (see all 16)
        Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
    FBXW7 Mutants and NOTCH1 in Cancer
    Signaling by NOTCH1 HD Domain Mutants in Cancer
    Signaling by NOTCH1 in Cancer
    Disease


    UniProtKB/Swiss-Prot: MIB2_HUMAN, Q96AX9
    Pathway: Protein modification; protein ubiquitination


    MIB2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MIB2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/18 Interacting proteins for MIB2 (Q96AX91, 3 ENSP000003480814) via UniProtKB, MINT, STRING, and/or I2D (see all 18)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    TBK1Q9UHD21, 3EBI-2130249,EBI-356402 I2D: score=1 
    MAP3K7O433183, ENSP000003583354I2D: score=2 STRING: ENSP00000358335
    UBE2UQ5VVX93, ENSP000003601164I2D: score=2 STRING: ENSP00000360116
    BCL10O959993I2D: score=2 
    ACTA1P681333I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007219Notch signaling pathway IEA--
    GO:0016567protein ubiquitination ----
    GO:0043123positive regulation of I-kappaB kinase/NF-kappaB cascade IMP12761501

    MIB2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MIB2

    Search CenterWatch for drugs/clinical trials and news about MIB2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MIB2 gene (5 alternative transcripts): 
    NM_001170686.1  NM_001170687.1  NM_001170688.1  NM_001170689.1  NM_080875.2  

    Unigene Clusters for MIB2:

    Mindbomb E3 ubiquitin protein ligase 2
    Hs.135805  [show with all ESTs], Hs.593430  [show with all ESTs]
    Unigene Representative Sequences: NM_080875, BC035078
    18/35 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 35):
    ENST00000520777 ENST00000355826 ENST00000518681 ENST00000505820 ENST00000479659
    ENST00000489635 ENST00000511502 ENST00000477990(uc021oet.1) ENST00000514363
    ENST00000487053(uc001agl.2 uc001agm.3) ENST00000502470 ENST00000378712
    ENST00000507082 ENST00000463492 ENST00000510793 ENST00000504599(uc010nyq.2)
    ENST00000507229 ENST00000503789
    miRNA
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    Additional mRNA sequence: BC035078.1 

    24/28 DOTS entries (see all 28):

    DT.101970850  DT.427135  DT.100030554  DT.101984676  DT.100787496  DT.101969062  DT.95298171  DT.97762267 
    DT.100787493  DT.95185010  DT.100030560  DT.121450211  DT.97823806  DT.100030559  DT.65286733  DT.95185024 
    DT.121450231  DT.95185027  DT.100787491  DT.65285549  DT.95185013  DT.121450160  DT.121450195  DT.91760184 

    24/48 AceView cDNA sequences (see all 48):

    BF197236 BV178518 BX509465 AI360951 BQ440174 AV653361 BG152598 BE250256 
    BE858181 AI637776 CB051127 AW592391 AW002725 AI299149 AW469709 AI312107 
    BE222279 BE467928 AI312105 AI223236 AW073747 BE326445 W61347 BM925490 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MIB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGCCCCCTGC
    MIB2 Expression
    About this image


    See MIB2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MIB2

    SOURCE GeneReport for Unigene clusters: Hs.135805 Hs.593430

    UniProtKB/Swiss-Prot: MIB2_HUMAN, Q96AX9
    Tissue specificity: Expressed in skeletal muscle, and to a lesser extent in heart, brain and kidney

        SABiosciences Expression via Pathway-Focused PCR Array including MIB2: 
              Ubiquitin Ligases in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MIB2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MIB2 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mib21 , 5 mindbomb homolog 2 (Drosophila)1, 5 85.49(n)1
    92.95(a)1
      4 (86.86 cM)5
    765801  NM_001256107.11  NP_001243036.11 
     1556546775 
    chicken
    (Gallus gallus)
    Aves MIB21 mindbomb homolog 2 (Drosophila) 67.12(n)
    69.37(a)
      419408  NM_001006301.1  NP_001006301.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    81(a)
    possible ortholog
    AAWZ02036979(3256-5760)
    zebrafish
    (Danio rerio)
    Actinopterygii mib21 mind bomb 2 66.77(n)
    62.44(a)
      560887  NM_001079678.1  NP_001073146.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mib21 mind bomb 2 51.34(n)
    44.14(a)
      35170  NM_136089.2  NP_609933.1 


    ENSEMBL Gene Tree for MIB2 (if available)
    TreeFam Gene Tree for MIB2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MIB2 gene
    ANKDD1A2  MIB12  ANKRD62  ANKDD1B2  
    8 SIMAP similar genes for MIB2 using alignment to 13 protein entries:     MIB2_HUMAN (see all proteins):
    ANKRD44    ANK2    ANKRD6    PPP1R12A    ANK3    IkBa
    RAI14    MIB1

    MIB2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/485 SNPs in MIB2 are shown (see all 485)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs94424301,2
    C,F--1548801(-) agggcG/Agatca 5 -- us2k15Minor allele frequency- A:0.20NA WA CSA 10
    rs75198631,2
    C,F--1548896(-) ctatgC/Gtgttt 5 -- us2k13Minor allele frequency- G:0.11NA WA 122
    rs1870367141,2
    --1548899(+) CAGCAC/TAGCCC 5 -- us2k10--------
    rs1461619301,2
    --1548975(+) CGGCAC/TGGTGG 5 -- us2k10--------
    rs1401242361,2
    C--1549007(+) ACTCAC/GGAGGC 5 -- us2k10--------
    rs753779811,2
    C,F--1549066(+) CAAGAC/TAGTGC 5 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1165545871,2
    F--1549069(+) GATAGT/AGCCAC 5 -- us2k11Minor allele frequency- A:0.04WA 118
    rs1910804031,2
    --1549099(+) CAGAGA/CAAGAC 5 -- us2k10--------
    rs345011551,2
    C,F--1549149(-) CCTAAG/ACTCTC 5 -- us2k14Minor allele frequency- A:0.20NA EA 244
    rs751094771,2
    C,F--1549166(+) TTTTTC/TGTTTA 5 -- us2k11Minor allele frequency- T:0.02WA 118

    HapMap Linkage Disequilibrium report for MIB2 (1550795 - 1565990 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/19 variations for MIB2 (see all 19):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2659399CNV Deletion23128226
    esv2748585CNV Deletion23290073
    esv2661270CNV Deletion23128226
    nsv871940CNV Loss21882294
    nsv871954CNV Loss21882294
    nsv870847CNV Loss21882294
    dgv10n71CNV Loss21882294
    dgv34n71CNV Loss21882294
    nsv871837CNV Loss21882294
    nsv822031CNV Loss20364138

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611141    OMIM disorders: --

    4 diseases for MIB2:    About MalaCards
    skin melanoma    multiple myeloma    melanoma    myeloma


    MIB2 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for MIB2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nevi 59 3 14507647 (1), 16715130 (1)
    melanoma 43 16 16715130 (8), 14507647 (3), 15869411 (3)
    tumors 4.65 1 16715130 (1)
    cancer 0 1 16715130 (1)


    Export disorders for MIB2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MIB2 gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with MIB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways. (PubMed id 12761501)1, 2, 3 Matsuda A....Sugano S. (2003)
    2. Down-regulation of a novel actin-binding molecule, skeletrophin, in malignant melanoma. (PubMed id 14507647)1, 2, 9 Takeuchi T....Ohtsuki Y. (2003)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. A ubiquitin ligase, skeletrophin, is a negative regulator of melanoma invasion. (PubMed id 16715130)1, 9 Takeuchi T....Ohtsuki Y. (2006)
    6. Skeletrophin, a novel ubiquitin ligase to the intracellular region of Jagged-2, is aberrantly expressed in multiple myeloma. (PubMed id 15920166)1, 9 Takeuchi T....Ohtsuki Y. (2005)
    7. Skeletrophin, a novel RING molecule controlled by the chromatin remodeling complex, is downregulated in malignant melanoma. (PubMed id 15869411)1, 9 Takeuchi T....Ohtsuki Y. (2005)
    8. Mapping a dynamic innate immunity protein interaction network regulating type I interferon production. (PubMed id 21903422)1 Li S....Dorf M.E. (2011)
    9. The E3 ubiquitin ligase mind bomb-2 (MIB2) protein co ntrols B-cell CLL/lymphoma 10 (BCL10)-dependent NF-I_B activation. (PubMed id 21896478)1 Stempin C.C....Redecke V. (2011)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 142678 HGNC: 30577 AceView: LOC142678.1 Ensembl:ENSG00000197530 euGenes: HUgn142678
    ECgene: MIB2 H-InvDB: MIB2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MIB2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MIB2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MIB2 gene:
    Search GeneIP for patents involving MIB2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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