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BAZ2B Gene

protein-coding   GIFtS: 57
GCID: GC02M160139

Bromodomain Adjacent To Zinc Finger Domain, 2B

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(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
Bromodomain Adjacent To Zinc Finger Domain, 2B1 2
WALp42
Bromodomain Adjacent To Zinc Finger Domain Protein 2B2
KIAA14763
hWALp43

External Ids:    HGNC: 9631   Entrez Gene: 299942   Ensembl: ENSG000001236367   OMIM: 6056835   UniProtKB: Q9UIF83   

Export aliases for BAZ2B gene to outside databases

Previous GC identifers: GC02M158107 GC02M158704 GC02M160378 GC02M160000 GC02M159883 GC02M152059


(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 BAZ2B Gene:
BAZ2B (bromodomain adjacent to zinc finger domain, 2B) is a protein-coding gene. An important paralog of this gene is BAZ1A.

UniProtKB/Swiss-Prot: BAZ2B_HUMAN, Q9UIF8
Function: May play a role in transcriptional regulation interacting with ISWI




(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 at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BAZ2B gene promoter:
         Nkx2-2   HSF1 (long)   FOXL1   AREB6   MEF-2A   POU2F1   POU2F1a   HSF1short   aMEF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for BAZ2B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BAZ2B


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

Entrez Gene cytogenetic band: 2q24.2   Ensembl cytogenetic band:  2q24.2   HGNC cytogenetic band: 2q24.2

BAZ2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BAZ2B gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M160139:  view genomic region     (about GC identifiers)

Start:
160,175,490 bp from pter      End:
160,473,203 bp from pter
Size:
297,714 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: BAZ2B_HUMAN, Q9UIF8 (See protein sequence)
Recommended Name: Bromodomain adjacent to zinc finger domain protein 2B  
Size: 2168 amino acids; 240459 Da
Subunit: Interacts with acetylated lysine residues on histone H1.4, H2A, H2B, H3 and H4 (in vitro)
Sequence caution: Sequence=AAH12576.1; Type=Frameshift; Positions=927; Sequence=AAH12576.1; Type=Miscellaneous
discrepancy; Note=contaminating sequence. Potential poly-A sequence; Sequence=BAA96000.2; Type=Erroneous
initiation; Sequence=BAB55231.1; Type=Erroneous initiation;
Selected PDB 3D structures from and Proteopedia for BAZ2B (see all 11):
2E7O (3D)        3G0L (3D)        3Q2F (3D)        4IR3 (3D)        4IR4 (3D)        4IR5 (3D)    
Secondary accessions: D3DPA8 Q96EA1 Q96SQ8 Q9P252 Q9Y4N8
Alternative splicing: 5 isoforms:  Q9UIF8-1   Q9UIF8-2   Q9UIF8-3   Q9UIF8-4   Q9UIF8-5   

Explore the universe of human proteins at neXtProt for BAZ2B: NX_Q9UIF8

Explore proteomics data for BAZ2B at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys1538
  • Modification sites at PhosphoSitePlus

  • See BAZ2B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001276904.1  NP_038478.2  

    ENSEMBL proteins: 
     ENSP00000376533   ENSP00000376534   ENSP00000400505   ENSP00000294905   ENSP00000393565  
     ENSP00000441341   ENSP00000415613   ENSP00000348087   ENSP00000339670  

    BAZ2B Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for BAZ2B
    GenScript Custom Purified and Recombinant Proteins Services for BAZ2B
    Novus Biologicals BAZ2B Proteins
    Novus Biologicals BAZ2B Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for BAZ2B

     
    Search eBioscience for Proteins for BAZ2B 

     
    antibodies-online proteins for BAZ2B (6 products) 

     
    antibodies-online peptides for BAZ2B

    BAZ2B Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for BAZ2B
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    ThermoFisher Antibodies for BAZ2B
    antibodies-online antibodies for BAZ2B (11 products) 

    BAZ2B Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for BAZ2B
    Cloud-Clone Corp. CLIAs for BAZ2B
    Search eBioscience for ELISAs for BAZ2B 
    antibodies-online kits for BAZ2B (2 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PHF: Zinc fingers, PHD-type

    Selected InterPro protein domains (see all 11):
     IPR001965 Znf_PHD
     IPR018501 DDT_dom_superfamily
     IPR013083 Znf_RING/FYVE/PHD
     IPR001739 Methyl_CpG_DNA-bd
     IPR004022 DDT_dom

    Graphical View of Domain Structure for InterPro Entry Q9UIF8

    ProtoNet protein and cluster: Q9UIF8

    4 Blocks protein domains:
    IPB001487 Bromodomain signature
    IPB001739 Methyl-CpG binding
    IPB001965 Zn-finger-like
    IPB004022 DDT domain


    UniProtKB/Swiss-Prot: BAZ2B_HUMAN, Q9UIF8
    Similarity: Belongs to the WAL family
    Similarity: Contains 1 bromo domain
    Similarity: Contains 1 DDT domain
    Similarity: Contains 1 MBD (methyl-CpG-binding) domain
    Similarity: Contains 1 PHD-type zinc finger


    Find genes that share domains with BAZ2B           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: BAZ2B_HUMAN, Q9UIF8
    Function: May play a role in transcriptional regulation interacting with ISWI

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005488binding ----
    GO:0005515protein binding IPI10662543
    GO:0008270zinc ion binding IEA--
         
    Find genes that share ontologies with BAZ2B           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for BAZ2B:
     Increased S DNA content 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for BAZ2B

    miRNA
    Products:
        
    miRTarBase miRNAs that target BAZ2B:
    hsa-mir-424-5p (MIRT042447), hsa-mir-335-5p (MIRT016898)

    Block miRNA regulation of human, mouse, rat BAZ2B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BAZ2B (see all 130):
    hsa-miR-140-5p hsa-miR-128 hsa-miR-3916 hsa-miR-409-5p hsa-miR-200b hsa-miR-92b hsa-miR-490-5p hsa-miR-877
    SwitchGear 3'UTR luciferase reporter plasmidBAZ2B 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for BAZ2B
    Predesigned siRNA for gene silencing in human, mouse, rat BAZ2B

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for BAZ2B

    Clone
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    GenScript: all cDNA clones in your preferred vector: BAZ2B (NM_013450)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BAZ2B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BAZ2B
    Addgene plasmids for BAZ2B 

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    Browse ESI BIO Cell Lines and PureStem Progenitors for BAZ2B 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BAZ2B


    (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
    BAZ2B_HUMAN, Q9UIF8: Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    Find genes that share ontologies with BAZ2B           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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        Pathway & Disease-focused RT2 Profiler PCR Array including BAZ2B: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for BAZ2B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for BAZ2B (Q9UIF82, 3 ENSP000003765344) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CTBP2P565453, ENSP000003118254I2D: score=4 STRING: ENSP00000311825
    WNK1Q9H4A33I2D: score=2 
    NR2F6P105883I2D: score=1 
    PRNPP041563I2D: score=1 
    TRIM23P364063I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated NAS10662543
    GO:0006355regulation of transcription, DNA-templated NAS10662543

    Find genes that share ontologies with BAZ2B           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 BAZ2B



    (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 BAZ2B gene (2 alternative transcripts): 
    NM_001289975.1  NM_013450.3  

    Unigene Cluster for BAZ2B:

    Bromodomain adjacent to zinc finger domain, 2B
    Hs.470369  [show with all ESTs]
    Unigene Representative Sequence: NM_013450
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000392782 ENST00000392783(uc002uao.3 uc002uap.3 uc002uau.1)
    ENST00000548440 ENST00000474437 ENST00000426648 ENST00000551504 ENST00000485917
    ENST00000294905 ENST00000482501 ENST00000472953(uc002uar.1) ENST00000441143
    ENST00000467184(uc002uat.4) ENST00000482503(uc010fop.1) ENST00000541068
    ENST00000437839 ENST00000483316 ENST00000552327 ENST00000355831(uc002uas.1)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat BAZ2B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BAZ2B (see all 130):
    hsa-miR-140-5p hsa-miR-128 hsa-miR-3916 hsa-miR-409-5p hsa-miR-200b hsa-miR-92b hsa-miR-490-5p hsa-miR-877
    SwitchGear 3'UTR luciferase reporter plasmidBAZ2B 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for BAZ2B
    Predesigned siRNA for gene silencing in human, mouse, rat BAZ2B
    Clone
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    OriGene clones in human, mouse for BAZ2B (see all 5)
    OriGene ORF clones in mouse, rat for BAZ2B
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: BAZ2B (NM_013450)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BAZ2B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BAZ2B
    Addgene plasmids for BAZ2B 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for BAZ2B
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BAZ2B
      QuantiTect SYBR Green Assays in human, mouse, rat BAZ2B
      QuantiFast Probe-based Assays in human, mouse, rat BAZ2B

    Additional mRNA sequence: 

    AB032255.1 AB040909.2 AK000386.1 AK000676.1 AK023566.1 AK027612.1 AK074895.1 AK127551.1 
    AK307683.1 AL080173.1 AL831854.1 AL834381.1 BC012576.1 BC068527.1 BC107570.1 BX641037.1 
    BX647250.1 

    Selected DOTS entries (see all 25):

    DT.436166  DT.443794  DT.101979248  DT.120993567  DT.97775873  DT.100784565  DT.100024306  DT.100684812 
    DT.101980823  DT.95135500  DT.100742738  DT.100784568  DT.97811871  DT.100730010  DT.120993635  DT.120993642 
    DT.120993767  DT.40266977  DT.40310917  DT.91896349  DT.99964892  DT.101958672  DT.120993713  DT.40121501 

    Selected AceView cDNA sequences (see all 166):

    BQ002922 BM968110 AW173580 BF221492 AA053317 BX485392 BM970329 AK027612 
    BF057266 BM129019 AW440571 AI472578 BM667306 AW078840 BM692946 BM354104 
    BM973709 AI049504 AB040909 F31324 AI339206 AI674297 AL705826 BX283538 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BAZ2B (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a ·
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 26b ^ 27a · 27b ^ 28a · 28b ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33
    SP1:                                                                  
    SP2:                          -                                       
    SP3:                                                                  
    SP4:                                                                  
    SP5:                                                                  


    ECgene alternative splicing isoforms for BAZ2B

    (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)
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    BAZ2B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    BAZ2B Expression
    About this image


    BAZ2B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Limb (Muscoskeletal System)
    BAZ2B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BAZ2B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.470369

    UniProtKB/Swiss-Prot: BAZ2B_HUMAN, Q9UIF8
    Tissue specificity: Expressed at varying levels in several tissues, whereas a smaller transcript was expressed
    specifically in testis

        Pathway & Disease-focused RT2 Profiler PCR Array including BAZ2B: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for BAZ2B
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BAZ2B
    QuantiTect SYBR Green Assays in human, mouse, rat BAZ2B
    QuantiFast Probe-based Assays in human, mouse, rat BAZ2B
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BAZ2B

    (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 BAZ2B gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Baz2b1 , 5 bromodomain adjacent to zinc finger domain, 2B1, 5 84.49(n)1
    85.38(a)1
      2 (34.18 cM)5
    4078231  NM_001001182.31  NP_001001182.21 
     598993635 
    chicken
    (Gallus gallus)
    Aves BAZ2B1 bromodomain adjacent to zinc finger domain, 2B 78.71(n)
    78.65(a)
      395400  NM_204677.1  NP_990008.1 
    lizard
    (Anolis carolinensis)
    Reptilia BAZ2B6
    bromodomain adjacent to zinc finger domain, 2B
    81(a)
    1 ↔ 1
    GL343379.1(89991-209841)
    African clawed frog
    (Xenopus laevis)
    Amphibia BQ400337.12   -- 79.32(n)    BQ400337.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.281642 Transcribed sequence with weak similarity to protein more 71.81(n)    57094588 
    fruit fly
    (Drosophila melanogaster)
    Insecta tou3 chromatin modeling chromatin binding 61(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea flt-16
    Protein FLT-1 (flt-1) mRNA, complete cds
    24(a)
    1 → many
    III(7650552-7656032) WBGene00001470


    ENSEMBL Gene Tree for BAZ2B (if available)
    TreeFam Gene Tree for BAZ2B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BAZ2B gene
    BAZ1A2  BPTF2  CECR22  BAZ2A2  BAZ1B2  KAT2A2  KAT2B2  
    3 SIMAP similar genes for BAZ2B using alignment to 9 protein entries:     BAZ2B_HUMAN (see all proteins):
    DKFZp686H10114    BRDT    BAZ2A

    Find genes that share paralogs with BAZ2B           About GenesLikeMe



    (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 BAZ2B (see all 5482)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs350245051,2
    C--152075702(+) GTCTC-/A/AA  
            
    AAAAA
    1 -- int12NA 4
    rs589000111,2
    C--159751600(+) AAAAA-/A/AA  
            
    TTAAT
    1 -- int11NA 2
    rs1130760321,2
    C--159796615(+) AGCCCTTATTA/-
            
    TTATT
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs46650571,2
    C,F,A,H--160174994(+) AAGCAG/CTGGAC 1 -- ds500127Minor allele frequency- C:0.35NS EA NA WA 3190
    rs768644851,2
    C--160175060(+) TGTACG/ACCAAT 1 -- ds50014Minor allele frequency- A:0.08CSA WA NA EA 360
    rs1872321831,2
    --160175083(+) TCTGGC/TGGAGC 1 -- ds50010--------
    rs1147423841,2
    C,F--160175119(+) TTGAAT/ATCTTG 1 -- ds50011Minor allele frequency- A:0.05WA 118
    rs1742311,2
    C,F,A,H--160175279(+) AAGACG/AAGGTT 1 -- ds500126Minor allele frequency- A:0.09NS EA NA WA CSA 1987
    rs1742301,2
    C,F,A,H--160175310(-) TGAAAG/ACCTCT 1 -- ds500128Minor allele frequency- A:0.16EA NA NS WA CSA 2493
    rs1436534401,2
    C--160175318(+) CAGGC-/TTACAG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for BAZ2B (160175490 - 160425490 bp, first 250kb of BAZ2B)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for BAZ2B (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2445750CNV Deletion19546169
    esv2674258CNV Deletion23128226
    esv1568454CNV Deletion17803354
    esv2530003CNV Deletion19546169
    nsv2995CNV Insertion18451855
    nsv507042CNV Insertion20534489
    dgv4350n71CNV Loss21882294
    nsv875335CNV Loss21882294
    dgv4351n71CNV Loss21882294
    nsv875339CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BAZ2B
    DNA2.0 Custom Variant and Variant Library Synthesis for BAZ2B

    (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: 605683    OMIM disorders: --


    Find genes that share disorders with BAZ2B           About GenesLikeMe

    Genetic Association Database (GAD): BAZ2B
    Human Genome Epidemiology (HuGE) Navigator: BAZ2B (1 document)

    Export disorders for BAZ2B 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 BAZ2B gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with BAZ2B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel family of bromodomain genes. (PubMed id 10662543)1, 2, 3 Jones M.H.... Shimane M. (Genomics 2000)
    2. Identification of a sudden cardiac death susceptibility locus at 2q24.2 through genome-wide association in European ancestry individuals. (PubMed id 21738491)1, 4 Arking D.E....Chugh S.S. (PLoS Genet. 2011)
    3. Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry. (PubMed id 17370265)1, 2 Denis N.J.... Figeys D. (Proteomics 2007)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    8. The SOX2-interactome in brain cancer cells identifies the requirement of MSI2 and USP9X for the growth of brain tumor cells. (PubMed id 23667531)1 Cox J.L....Rizzino A. (PLoS ONE 2013)
    9. Histone recognition and large-scale structural analysis of the human bromodomain family. (PubMed id 22464331)2 Filippakopoulos P.... Knapp S. (Cell 2012)
    10. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)

    (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: 29994 HGNC: 963 AceView: BAZ2B Ensembl:ENSG00000123636 euGenes: HUgn29994
    ECgene: BAZ2B H-InvDB: BAZ2B

    (According to HUGE)
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    HUGE: KIAA1476

    (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 BAZ2B Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BAZ2B Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BAZ2B gene:
    Search GeneIP for patents involving BAZ2B

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



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