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MYCBP2 Gene

protein-coding   GIFtS: 57
GCID: GC13M077618

MYC Binding Protein 2, E3 Ubiquitin Protein Ligase

(Previous name: MYC binding protein 2)
  Search for MYCBP2
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
MYC Binding Protein 2, E3 Ubiquitin Protein Ligase1 2     KIAA09163 5
PAM2 3 5     MYC Binding Protein 21
Myc-Binding Protein 22 3     Probable E3 Ubiquitin-Protein Ligase MYCBP22
Pam/Highwire/Rpm-1 Protein2 3     EC 6.3.2.-3
Protein Associated With Myc2 3     

External Ids:    HGNC: 233861   Entrez Gene: 230772   Ensembl: ENSG000000058107   OMIM: 6103925   UniProtKB: O755923   

Export aliases for MYCBP2 gene to outside databases

Previous GC identifers: GC13M075417 GC13M076517 GC13M058316


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MYCBP2 Gene:
MYCBP2 (MYC binding protein 2, E3 ubiquitin protein ligase) is a protein-coding gene. GO annotations related to this gene include ubiquitin-protein ligase activity and protein homodimerization activity.

UniProtKB/Swiss-Prot: MYCB2_HUMAN, O75592
Function: Probable E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal
degradation of target proteins. May function as a facilitator or regulator of transcriptional activation by MYC.
May have a role during synaptogenesis

Gene Wiki entry for MYCBP2 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000013.11  NT_024524.15  NC_018924.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MYCBP2 gene promoter:
         ER-alpha   ISGF-3   HOXA3   AML1a   C/EBPalpha   Meis-1b   AREB6   CHOP-10   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYCBP2 promoter sequence
   Search Chromatin IP Primers for MYCBP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MYCBP2


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

Entrez Gene cytogenetic band: 13q22   Ensembl cytogenetic band:  13q22.3   HGNC cytogenetic band: 13q22

MYCBP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYCBP2 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M077618:  view genomic region     (about GC identifiers)

Start:
77,618,792 bp from pter      End:
77,901,185 bp from pter
Size:
282,394 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MYCB2_HUMAN, O75592 (See protein sequence)
Recommended Name: Probable E3 ubiquitin-protein ligase MYCBP2  
Size: 4640 amino acids; 510084 Da
Subunit: Interacts with MYC. Interacts with TSC2 (tuberin) when TSC2 is in complex with TSC1 (hamartin). Interacts
with FBXO45
Sequence caution: Sequence=AAD39842.1; Type=Frameshift; Positions=4636; Sequence=AAH37971.1; Type=Erroneous
initiation; Sequence=CAI39758.1; Type=Erroneous gene model prediction;
Secondary accessions: A6NJC6 Q5JSX8 Q5VZN6 Q6PIB6 Q9UQ11 Q9Y6E4
Alternative splicing: 2 isoforms:  O75592-1   O75592-2   (Derived from EST data)

Explore the universe of human proteins at neXtProt for MYCBP2: NX_O75592

Explore proteomics data for MYCBP2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys1008, Lys2094, Lys3750
  • Modification sites at PhosphoSitePlus

  • See MYCBP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055872.4  
    ENSEMBL proteins: 
     ENSP00000444596   ENSP00000413907   ENSP00000384288   ENSP00000349892   ENSP00000353197  

    MYCBP2 Human Recombinant Protein Products:

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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MYCBP2

     
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    Novus Biologicals MYCBP2 Antibodies
    Abcam antibodies for MYCBP2
    Cloud-Clone Corp. Antibodies for MYCBP2
    Search ThermoFisher Antibodies for MYCBP2
    Search LSBio for Antibodies for MYCBP2

    MYCBP2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for MYCBP2
    Cloud-Clone Corp. CLIAs for MYCBP2
    Search eBioscience for ELISAs for MYCBP2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 12):
     IPR004939 APC_su10/DOC_dom
     IPR001841 Znf_RING
     IPR014756 Ig_E-set
     IPR012983 PHR
     IPR009091 RCC1/BLIP-II

    Graphical View of Domain Structure for InterPro Entry O75592

    ProtoNet protein and cluster: O75592

    2 Blocks protein domains:
    IPB000408 Regulator of chromosome condensation
    IPB001841 Zn-finger


    UniProtKB/Swiss-Prot: MYCB2_HUMAN, O75592
    Domain: The PHR domains are compact beta-sandwich folds composed of 11 antiparallel strands and decorated with
    conserved apical loops. They are likely to play a structural role and mediate interactions with substrates or
    partners (By similarity)
    Similarity: Belongs to the highwire family
    Similarity: Contains 1 B box-type zinc finger
    Similarity: Contains 1 DOC domain
    Similarity: Contains 1 filamin repeat
    Similarity: Contains 5 RCC1 repeats
    Similarity: Contains 1 RING-type zinc finger


    Find genes that share domains with MYCBP2           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYCB2_HUMAN, O75592
    Function: Probable E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal
    degradation of target proteins. May function as a facilitator or regulator of transcriptional activation by MYC.
    May have a role during synaptogenesis

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IEA--
    GO:0005488binding ----
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IEA--
    GO:0042803protein homodimerization activity IEA--
         
    Find genes that share ontologies with MYCBP2           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Mycbp2):
     behavior/neurological  cellular  growth/size/body  integument  limbs/digits/tail 
     mortality/aging  muscle  nervous system  respiratory system 

    Find genes that share phenotypes with MYCBP2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Mycbp2tm1.1Adia for MYCBP2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MYCBP2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MYCBP2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MYCBP2

    miRNA
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    miRTarBase miRNAs that target MYCBP2:
    hsa-mir-183-5p (MIRT047123), hsa-mir-17-5p (MIRT050846), hsa-mir-148a-3p (MIRT048035), hsa-mir-196a-5p (MIRT048178), hsa-mir-15b-5p (MIRT046460), hsa-mir-21-5p (MIRT030878)

    Block miRNA regulation of human, mouse, rat MYCBP2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MYCBP2 (see all 47):
    hsa-miR-300 hsa-miR-25 hsa-miR-16-1* hsa-let-7a-2* hsa-miR-371-5p hsa-miR-4325 hsa-miR-489 hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidMYCBP2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MYCBP2
    Predesigned siRNA for gene silencing in human, mouse, rat MYCBP2

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: MYCBP2 (NM_015057)
    Browse Sino Biological Human cDNA Clones
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat MYCBP2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYCBP2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MYCB2_HUMAN, O75592: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    cytoskeleton2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0015630microtubule cytoskeleton IEA--
    GO:0030424axon IEA--

    Find genes that share ontologies with MYCBP2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for MYCBP2 About    
    See pathways by source

    SuperPathContained pathways About
    1Integrated Breast Cancer Pathway
    Integrated Breast Cancer Pathway


    1 BioSystems Pathway for MYCBP2
        Integrated Breast Cancer Pathway


    UniProtKB/Swiss-Prot: MYCB2_HUMAN, O75592
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Array including MYCBP2: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MYCBP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MYCBP2 (O755921, 2, 3 ENSP000003498924) via UniProtKB, MINT, STRING, and/or I2D (see all 148)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHABP319462, 3, ENSP000003001614MINT-50958 I2D: score=3 STRING: ENSP00000300161
    YWHAQP273482, 3, ENSP000002380814MINT-8395092 I2D: score=1 STRING: ENSP00000238081
    SFNP319472, 3MINT-3975875 I2D: score=2 
    YWHAZP631042, 3MINT-3307735 I2D: score=1 
    YWHAGP619812, 3, ENSP000003063304MINT-50831 MINT-50384 I2D: score=3 STRING: ENSP00000306330
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0008045motor neuron axon guidance ----
    GO:0021785branchiomotor neuron axon guidance IEA--
    GO:0021952central nervous system projection neuron axonogenesis IEA--

    Find genes that share ontologies with MYCBP2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MYCBP2 (MYCB2)

    4 HMDB Compounds for MYCBP2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MYCBP2 gene: 
    NM_015057.4  

    Unigene Cluster for MYCBP2:

    MYC binding protein 2, E3 ubiquitin protein ligase
    Hs.591221  [show with all ESTs]
    Unigene Representative Sequence: NM_015057
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000544440(uc021rks.1 uc010aev.3) ENST00000429715 ENST00000485061
    ENST00000482517 ENST00000462987 ENST00000498073 ENST00000466564 ENST00000486679
    ENST00000474882 ENST00000491491 ENST00000407578 ENST00000357337(uc001vke.3 uc001vkg.1)
    ENST00000360084
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate MYCBP2 (see all 47):
    hsa-miR-300 hsa-miR-25 hsa-miR-16-1* hsa-let-7a-2* hsa-miR-371-5p hsa-miR-4325 hsa-miR-489 hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidMYCBP2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MYCBP2
    Clone
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    GenScript: all cDNA clones in your preferred vector: MYCBP2 (NM_015057)
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat MYCBP2
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for MYCBP2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MYCBP2
      QuantiTect SYBR Green Assays in human, mouse, rat MYCBP2
      QuantiFast Probe-based Assays in human, mouse, rat MYCBP2

    Additional mRNA sequence: 

    AB020723.1 AF075587.1 AF083244.1 AK000968.1 AK023888.1 AK025250.1 AK025299.1 BC037971.2 
    BX647202.1 

    24 DOTS entries:

    DT.445942  DT.95136320  DT.101956478  DT.100036184  DT.40111890  DT.95136323  DT.120779329  DT.92059107 
    DT.99940688  DT.120779348  DT.120779355  DT.100651675  DT.120779234  DT.120779243  DT.40121982  DT.435320 
    DT.91924201  DT.92038334  DT.95136324  DT.97786543  DT.102830145  DT.120779333  DT.92068186  DT.95237255 

    Selected AceView cDNA sequences (see all 270):

    AW663079 BQ063902 CD512895 BX093662 BQ721568 T87394 AJ711034 BX641381 
    AW964505 AL704422 AA236471 BP351664 BQ721146 AI376368 BE886946 AA969021 
    AL704331 AL046362 CA391747 AL046363 BU147423 CA396287 AA953089 CA394996 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MYCBP2 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
    SP1:                                                                                                                          -                                 
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                      -                                                                                                                     
    SP5:                                                                                                                                                            

    ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32
    SP1:                                                                  
    SP2:                                                                  
    SP3:                                                                  
    SP4:                                                                  
    SP5:                                                                  


    ECgene alternative splicing isoforms for MYCBP2

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    MYCBP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAATAAAAC
    MYCBP2 Expression
    About this image

    MYCBP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MYCBP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591221

    UniProtKB/Swiss-Prot: MYCB2_HUMAN, O75592
    Tissue specificity: Expressed in all tissues examined, expression is exceptionally abundant in brain and thymus.
    Colocalizes with TSC1 and TSC2 along the neurites and in the growth cones. Colocalized with TSC1 in one of the
    filopodial extensions at the tip of a growth cone

        Pathway & Disease-focused RT2 Profiler PCR Array including MYCBP2: 
              Ubiquitin Ligases in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat MYCBP2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYCBP2

    (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

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    This gene was present in the common ancestor of animals.

    Orthologs for MYCBP2 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mycbp21 , 5 MYC binding protein 21, 5 89.94(n)1
    97.17(a)1
      14 (51.79 cM)5
    1056891  NM_207215.21  NP_997098.21 
     1031134115 
    chicken
    (Gallus gallus)
    Aves MYCBP21 MYC binding protein 2, E3 ubiquitin protein ligase 83.9(n)
    94.59(a)
      418808  XM_004938628.1  XP_004938685.1 
    lizard
    (Anolis carolinensis)
    Reptilia MYCBP26
    MYC binding protein 2, E3 ubiquitin protein ligase...
    90(a)
    1 ↔ 1
    3(86475749-86637155)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ056821.12   -- 79.33(n)    BJ056821.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.171632 Transcribed sequence with strong similarity to protein more 79.55(n)    CA472642.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta hiw1 highwire 50.09(n)
    46.47(a)
      32429  NM_078604.3  NP_511159.3 
    worm
    (Caenorhabditis elegans)
    Secernentea rpm-11 rpm-1 45.62(n)
    32.81(a)
      179259  NM_072866.3  NP_505267.1 


    ENSEMBL Gene Tree for MYCBP2 (if available)
    TreeFam Gene Tree for MYCBP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MYCBP2 gene
    3 SIMAP similar genes for MYCBP2 using alignment to 4 protein entries:     MYCB2_HUMAN (see all proteins):
    DKFZp586G0322    HERC3    HERC6

    Find genes that share paralogs with MYCBP2           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for MYCBP2
    PGOHUM00000235117


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MYCBP2 (see all 4803)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1411515041,2
    Cuntested177672285(+) TTTTTC/TTTTTT 2 K E mis10--------
    rs1930453631,2
    C--77618305(+) AGCCTC/TGGCAA 1 -- ds50010--------
    rs1831177461,2
    --77618413(+) GGATCA/GCTTGA 1 -- ds50010--------
    rs1870036161,2
    --77618454(+) CACGCC/TGCTGT 1 -- ds50010--------
    rs1119697991,2
    C--77618594(+) ACGAA-/AT/TA 
            
    TATAT
    1 -- ds50011CSA 2
    rs1478874341,2
    --77618731(+) AAAACG/TGGACT 1 -- ds50010--------
    rs789921901,2
    F--77618780(+) AATACC/TTCCCA 1 -- ds50011Minor allele frequency- T:0.01NA 120
    rs1416403921,2
    --77618793(+) GTGGTA/GGACTT 1 -- ut310--------
    rs284117091,2
    C,F,H--77618997(+) TACAGT/GGTGAT 1 -- ut31 ese310Minor allele frequency- G:0.01EA NS NA 1168
    rs784950891,2
    C--77619036(+) ACAATG/TTTTTT 1 -- ut311Minor allele frequency- T:0.50NA 2

    HapMap Linkage Disequilibrium report for MYCBP2 (77618792 - 77868792 bp, first 250kb of MYCBP2)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for MYCBP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1226195CNV Insertion17803354
    esv2515250CNV Insertion19546169
    nsv832653CNV Loss17160897
    nsv528143CNV Loss19592680
    dgv575e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): MYCBP2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MYCBP2
    DNA2.0 Custom Variant and Variant Library Synthesis for MYCBP2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610392    OMIM disorders: --


    Find genes that share disorders with MYCBP2           About GenesLikeMe

    Genetic Association Database (GAD): MYCBP2
    Human Genome Epidemiology (HuGE) Navigator: MYCBP2 (2 documents)

    Export disorders for MYCBP2 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)
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    PubMed articles for MYCBP2 gene, integrated from 10 sources (see all 52):
    (articles sorted by number of sources associating them with MYCBP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2, 3 Dunham A.... Ross M.T. (Nature 2004)
    2. Identification of a large Myc-binding protein that contains RCC1-like repeats. (PubMed id 9689053)1, 2, 3 Guo Q.... Bishop J.M. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 2009)
    4. Fbxo45 forms a novel ubiquitin ligase complex and is required for neuronal development. (PubMed id 19398581)1, 2 Saiga T....Nakayama K.I. (Mol. Cell. Biol. 2009)
    5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    6. Pam and its ortholog highwire interact with and may negatively regulate the TSC1.TSC2 complex. (PubMed id 14559897)1, 2 Murthy V....Ramesh V. (J. Biol. Chem. 2004)
    7. 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. (Genome Res. 2004)
    8. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (DNA Res. 2002)
    9. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (Genome Res. 2000)
    10. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)1, 2 Nagase T.... Ohara O. (DNA Res. 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 23077 HGNC: 23386 AceView: MYCBP2 Ensembl:ENSG00000005810 euGenes: HUgn23077
    ECgene: MYCBP2 H-InvDB: MYCBP2

    (According to HUGE)
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    HUGE: KIAA0916

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MYCBP2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MYCBP2 gene:
    Search GeneIP for patents involving MYCBP2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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