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

BBC3 Gene

protein-coding   GIFtS: 59
GCID: GC19M047724

BCL2 Binding Component 3

  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

Aliases
BCL2 Binding Component 31 2
PUMA2 3 5
JFY-12 3
P53 Up-Regulated Modulator Of Apoptosis2 3
JFY12
Bcl-2-Binding Component 32

External Ids:    HGNC: 178681   Entrez Gene: 271132   Ensembl: ENSG000001053277   OMIM: 6058545   UniProtKB: Q96PG83   
UniProtKB: Q9BXH13   

Export aliases for BBC3 gene to outside databases

Previous GC identifers: GC19M048367 GC19M048114 GC19M052400 GC19M052415 GC19M044148


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

Entrez Gene summary for BBC3 Gene:
This gene encodes a member of the BCL-2 family of proteins. This family member belongs to the BH3-only
pro-apoptotic subclass. The protein cooperates with direct activator proteins to induce mitochondrial outer
membrane permeabilization and apoptosis. It can bind to anti-apoptotic Bcl-2 family members to induce
mitochondrial dysfunction and caspase activation. Because of its pro-apoptotic role, this gene is a potential
drug target for cancer therapy and for tissue injury. Alternative splicing results in multiple transcript
variants. (provided by RefSeq, Dec 2011)

GeneCards Summary for BBC3 Gene: 
BBC3 (BCL2 binding component 3) is a protein-coding gene. Diseases associated with BBC3 include alexia, and traumatic brain injury, and among its related super-pathways are DNA damage response and Mitochondrial Apoptosis. GO annotations related to this gene include protein binding.

UniProtKB/Swiss-Prot: BBC3_HUMAN, Q9BXH1
Function: Essential mediator of p53/TP53-dependent and p53/TP53-independent apoptosis. Functions by promoting
partial unfolding of BCL2L1 and dissociation of BCL2L1 from p53/TP53. Regulates ER stress-induced neuronal
apoptosis

Gene Wiki entry for BBC3 (P53 upregulated modulator of apoptosis) 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_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BBC3 gene promoter:
         Sp1   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): BBC3 promoter sequence
   Search SABiosciences Chromatin IP Primers for BBC3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BBC3


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

Entrez Gene cytogenetic band: 19q13.3-q13.4   Ensembl cytogenetic band:  19q13.32   HGNC cytogenetic band: 19q13.3-q13.4

BBC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BBC3 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M047724:  view genomic region     (about GC identifiers)

Start:
47,724,079 bp from pter      End:
47,736,023 bp from pter
Size:
11,945 bases      Orientation:
minus 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: BBC3B_HUMAN, Q96PG8 (See protein sequence)
Recommended Name: Bcl-2-binding component 3  
Size: 261 amino acids; 26498 Da
Subunit: Isoform 3 does not interact with BCL2
Subcellular location: Mitochondrion. Note=Localized to the mitochondria in order to induce cytochrome c release.
Isoform 3 is not found in mitochondria
Alternative splicing: 4 isoforms:  Q96PG8-2   Q96PG8-1   Q9BXH1-1   Q9BXH1-2   

UniProtKB/Swiss-Prot: BBC3_HUMAN, Q9BXH1 (See protein sequence)

Recommended Name: Bcl-2-binding component 3  
Size: 193 amino acids; 20532 Da
Subunit: Interacts with MCL1 and BCL2A1 (By similarity). Interacts with BCL2 and BCL2L1/BCL-XL
Subcellular location: Mitochondrion. Note=Localized to the mitochondria in order to induce cytochrome c release
2 PDB 3D structures from and Proteopedia for BBC3:
2M04 (3D)        4HNJ (3D)    
Secondary accessions: B9EGI3 O00171 Q96PG9
Alternative splicing: 4 isoforms:  Q9BXH1-1   Q9BXH1-2   Q96PG8-1   Q96PG8-2   

Explore the universe of human proteins at neXtProt for BBC3: NX_Q9BXH1

Explore proteomics data for BBC3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BXH1

  • BBC3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BBC3 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001120712.1  NP_001120713.1  NP_001120714.1  NP_055232.1  

    ENSEMBL proteins: 
     ENSP00000404503   ENSP00000300880   ENSP00000341155   ENSP00000395862  
    Reactome Protein details: Q9BXH1
    Human Recombinant Protein Products for BBC3: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for BBC3
    OriGene Protein Over-expression Lysate for BBC3
    OriGene MassSpec for BBC3 
    OriGene Custom Protein Services for BBC3
    GenScript Custom Purified and Recombinant Proteins Services for BBC3
    Novus Biologicals BBC3 Proteins
    Novus Biologicals BBC3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005741mitochondrial outer membrane TAS--
    GO:0005829cytosol TAS--

    BBC3 for ontologies           About GeneDecksing



    BBC3 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of BBC3
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    GenScript Custom Superior Antibodies Services for BBC3
    Novus Biologicals BBC3 Antibodies
    Abcam antibodies for BBC3
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibody for BBC3
    LSBio Antibodies in human, mouse, rat for BBC3 

    Assay Products for BBC3: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for BBC3
    Browse R&D Systems for biochemical assays
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    Browse Enzo Life Sciences for kits & assays
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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q96PG8

    UniProtKB/Swiss-Prot: BBC3_HUMAN, Q9BXH1
    Domain: The BH3 motif is intrinsically disordered
    Similarity: Belongs to the Bcl-2 family


    (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: BBC3B_HUMAN, Q96PG8
    Function: Essential mediator of p53/TP53-dependent and p53/TP53-independent apoptosis. Isoform 3 fails to show any
    growth-inhibitory or apoptotic activity
    Induction: By DNA damage, glucocorticoid treatment, growth factor deprivation and p53/TP53

         UniProtKB/Swiss-Prot: BBC3_HUMAN, Q9BXH1
    Function: Essential mediator of p53/TP53-dependent and p53/TP53-independent apoptosis. Functions by promoting
    partial unfolding of BCL2L1 and dissociation of BCL2L1 from p53/TP53. Regulates ER stress-induced neuronal
    apoptosis
    Induction: By DNA damage, glucocorticoid treatment, growth factor deprivation and p53. By ER stress in a
    DDIT3/CHOP-dependent manner

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11463391
         
    BBC3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for BBC3:
     Increased cell number in G1, s 

         11 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Bbc3):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  growth/size 
     hematopoietic system  homeostasis/metabolism  immune system  mortality/aging  nervous system 
     reproductive system 

    BBC3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for BBC3: Bbc3tm1Gpz Bbc3tm1Ast

       inGenious Targeting Laboratory - Custom generated mouse model solutions for BBC3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for BBC3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BBC3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BBC3 

    miRNA
    Products:
        
    miRTarBase miRNAs that target BBC3:
    hsa-mir-125b (MIRT005915), hsa-mir-222 (MIRT005369), hsa-mir-221 (MIRT003367), hsa-mir-483-3p (MIRT004500)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BBC3
    8/66 QIAGEN miScript miRNA Assays for microRNAs that regulate BBC3 (see all 66):
    hsa-miR-140-5p hsa-miR-579 hsa-miR-642a hsa-miR-1224-3p hsa-miR-1260b hsa-miR-128 hsa-miR-877* hsa-miR-149
    SwitchGear 3'UTR luciferase reporter plasmidBBC3 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for BBC3
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    Gene Editing
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for BBC3 (see all 17)
    OriGene ORF clones in mouse, rat for BBC3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): BBC3 (NM_014417)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BBC3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BBC3
    Sirion Biotech Customized lentivirus for stable overexpression of BBC3 
                         Customized lentivirus expression plasmids for stable overexpression of BBC3 

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    GenScript Custom overexpressing Cell Line Services for BBC3
    Search LifeMap BioReagents cell lines for BBC3
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBC3


    (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 BBC3 About   (see all 18)                                                                                              See pathways by source

    SuperPathContained pathways About
    1p53 signaling pathway
    DNA damage response0.41
    p53 signaling pathway0.41
    2Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    p53 Mediated Apoptosis0.84
    Cellular Apoptosis Pathway0.85
    3Activation of BH3-only proteins
    Activation of BH3-only proteins0.68
    BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members0.30
    Intrinsic Pathway for Apoptosis0.63
    4Apoptosis Modulation and Signaling
    Apoptosis0.38
    Apoptosis Modulation and Signaling0.38
    5Rho Family GTPases
    Molecular Mechanisms of Cancer0.51

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for BBC3
        Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins

    1 R&D Systems Pathway for BBC3
        Apoptosis Signaling Pathways

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for BBC3
        p53 Mediated Apoptosis
    Mitochondrial Apoptosis
    Molecular Mechanisms of Cancer
    Cellular Apoptosis Pathway

    1 Cell Signaling Technology (CST) Pathway for BBC3
        Apoptosis and Autophagy

    1 GeneGo (Thomson Reuters) Pathway for BBC3
        Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins

    5/7 BioSystems Pathways for BBC3 (see all 7)
        DNA damage response
    Apoptosis
    Apoptosis Modulation and Signaling
    DNA damage response (only ATM dependent)
    TP53 network

    5        Reactome Pathways for BBC3
        Activation of BH3-only proteins
    Intrinsic Pathway for Apoptosis
    Activation of PUMA and translocation to mitochondria
    BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
    Apoptosis

    1 PharmGKB Pathway for BBC3
        Busulfan Pathway, Pharmacodynamics

    4         Kegg Pathways  (Kegg details for BBC3):
        p53 signaling pathway
    Hippo signaling pathway
    Huntington's disease
    Measles


    BBC3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BBC3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/23 Interacting proteins for BBC3 (Q9BXH11, 2, 3 ENSP000004045034) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BCL2L2Q928431, 3, ENSP000002504054EBI-519884,EBI-707714 I2D: score=4 STRING: ENSP00000250405
    BCL2P104151, 3, ENSP000003296234EBI-519884,EBI-77694 I2D: score=7 STRING: ENSP00000329623
    BCL2L2-PABPN1Q928431, 3EBI-519884,EBI-707714 I2D: score=4 
    MCL1Q078201, 3, ENSP000003580224EBI-519884,EBI-1003422 I2D: score=4 STRING: ENSP00000358022
    BAXQ078123, ENSP000002932884I2D: score=3 STRING: ENSP00000293288
    About this table

    Gene Ontology (GO): 5/21 biological process terms (GO ID links to tree view) (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001836release of cytochrome c from mitochondria IDA11463392
    GO:0006915apoptotic process TAS--
    GO:0006919activation of cysteine-type endopeptidase activity involved in apoptotic process IDA11463392
    GO:0006974response to DNA damage stimulus ISS--
    GO:0008340determination of adult lifespan ISS--

    BBC3 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

    BBC3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BBC3

    3 Novoseek inferred chemical compound relationships for BBC3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    noxa 89.4 15 17075314 (2), 19805519 (2), 15126337 (1), 17150195 (1) (see all 12)
    etoposide 12.2 1 19383392 (1)
    oxygen 1.03 1 15753358 (1)

    Search CenterWatch for drugs/clinical trials and news about BBC3

    (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 BBC3 gene (4 alternative transcripts): 
    NM_001127240.2  NM_001127241.2  NM_001127242.2  NM_014417.4  

    Unigene Cluster for BBC3:

    BCL2 binding component 3
    Hs.467020  [show with all ESTs]
    Unigene Representative Sequence: NM_014417
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000601438 ENST00000449228(uc010xyl.2) ENST00000300880(uc010ekz.3)
    ENST00000341983(uc010eky.3) ENST00000439096(uc002pgf.4) ENST00000598636

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BBC3
    8/66 QIAGEN miScript miRNA Assays for microRNAs that regulate BBC3 (see all 66):
    hsa-miR-140-5p hsa-miR-579 hsa-miR-642a hsa-miR-1224-3p hsa-miR-1260b hsa-miR-128 hsa-miR-877* hsa-miR-149
    SwitchGear 3'UTR luciferase reporter plasmidBBC3 3' UTR sequence
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BBC3
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): BBC3 (NM_014417)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BBC3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BBC3
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BBC3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BBC3

    Additional mRNA sequence: 

    AF332558.1 AF354654.1 AF354655.1 AF354656.1 AK298837.1 BC136481.1 U82987.1 

    7 DOTS entries:

    DT.97840863  DT.97840861  DT.100811197  DT.91758057  DT.100809683  DT.97840862  DT.75108932 

    24/45 AceView cDNA sequences (see all 45):

    BM725137 BX280221 AW088635 AA729307 AI784404 CA315005 CA443400 AI791900 
    AF332558 AF354655 AK124984 AI698647 AI821703 AI688112 NM_014417 AF354656 
    BE545472 U82987 AF354654 CA313069 BM785931 AL079699 BX346254 BG391239 

    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

    BBC3 expression in normal human tissues (normalized intensities)      BBC3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTTTTGTAT
    BBC3 Expression
    About this image


    BBC3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/24 selected tissues (see all 24) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             Umbilical cord blood-derived hematopoietic stem cells
             lung ; macrophages   
             cd14+ cells   
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Leydig Cells Testis Interstitium
             epididymis ; glandular cells   
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Islets of Langerhans
             pancreas ; exocrine glandular cells   

    See BBC3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BBC3

    SOURCE GeneReport for Unigene cluster: Hs.467020

    UniProtKB/Swiss-Prot: BBC3_HUMAN, Q9BXH1
    Tissue specificity: Ubiquitously expressed

        SABiosciences Expression via Pathway-Focused PCR Arrays including BBC3 (see all 6): 
              Mitochondria in human mouse rat
              DNA Damage Signaling Pathway in human mouse rat
              p53 Signaling Pathway in human mouse rat
              Signal Transduction PathwayFinder in human mouse rat
              Apoptosis 384HT in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for BBC3
    OriGene qSTAR qPCR primer pairs in human, mouse for BBC3
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat BBC3
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BBC3
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BBC3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBC3

    (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 chordates.

    Orthologs for BBC3 gene from 2/3 species (see all 3)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bbc35 BCL2 binding component 3   --   7 (8.85 cM) 16309616 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.208642 Xenopus laevis transcribed sequence with weak similarity more 90.83(n)    BQ897336.1 


    ENSEMBL Gene Tree for BBC3 (if available)
    TreeFam Gene Tree for BBC3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/208 SNPs in BBC3 are shown (see all 208)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs612428581,2
    C--47736342(+) TTTTT-/C/CT  
            
    TTTTT
    4 -- us2k12NA CSA 4
    rs681173061,2
    C--47736343(+) TTTTT-/CTTTTT 4 -- us2k10--------
    rs1452831371,2
    --47909476(+) TGAGAC/TAGGGT 4 -- ds50010--------
    rs1476687541,2
    --47909500(+) CCAAGC/TTTGAG 4 -- ds50010--------
    rs347257301,2
    C--47909621(+) GCTAA-/TTTT  
            
    TTTTA
    4 -- ds50010--------
    rs735705191,2
    C,F--47909650(+) AGAGAC/TGGAGT 4 -- ds50013Minor allele frequency- T:0.20WA 122
    rs1927065971,2
    --47909651(+) GAGACA/GGAGTT 4 -- ds50010--------
    rs747102441,2
    C,F--47910003(+) AAGGAA/GACATA 4 -- ut311Minor allele frequency- G:0.06EA 120
    rs604804761,2
    F--47910299(+) GGGGGC/TGGTCA 4 -- ut310--------
    rs1886087711,2
    --47910300(+) GGGGCA/GGTCAC 4 -- ut310--------

    HapMap Linkage Disequilibrium report for BBC3 (47724079 - 47736023 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for BBC3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv912196CNV Loss21882294
    nsv833852CNV Loss17160897
    nsv819260CNV Loss19587683
    esv26583CNV Loss19812545
    dgv3963n71CNV Loss21882294

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing BBC3
    DNA2.0 Custom Variant and Variant Library Synthesis for BBC3

    (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: 605854    OMIM disorders: --

    20/36 diseases for BBC3 (see all 36):    About MalaCards
    alexia    traumatic brain injury    brain injury    measles
    chronic myeloid leukemia    chronic lymphocytic leukemia    ataxia telangiectasia    colorectal cancer
    ulcerative colitis    squamous cell carcinoma of the head and neck    huntington's disease    myeloma
    ataxia    pancreatic cancer    melanoma    hypoxia
    myeloid leukemia    ischemia    glioblastoma    neuroblastoma


    BBC3 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for BBC3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myeloma 37.6 1 15738311 (1)
    cancer 32.8 9 16675590 (2), 17393317 (2), 18377871 (2), 12574499 (1) (see all 6)
    tumors 28.9 3 16675590 (1), 11572983 (1), 20021821 (1)
    colorectal cancer 28.4 6 17393317 (2), 12574499 (1), 15753358 (1), 11463391 (1) (see all 5)
    melanoma 4.04 3 17652623 (2), 17075314 (1)
    cancer lung 0 15 16675590 (9)

    Genetic Association Database (GAD): BBC3
    Human Genome Epidemiology (HuGE) Navigator: BBC3 (2 documents)

    Export disorders for BBC3 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 BBC3 gene, integrated from 9 sources (see all 167):
    (articles sorted by number of sources associating them with BBC3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Expression of bbc3, a pro-apoptotic BH3-only gene, is regulated by diverse cell death and survival signals. (PubMed id 11572983)1, 2, 3, 9 Han J.-W.... Chittenden T. (2001)
    2. PUMA, a novel proapoptotic gene, is induced by p53. (PubMed id 11463392)1, 2, 3 Nakano K. and Wousden K.H. (2001)
    3. PUMA induces the rapid apoptosis of colorectal cancer cells. (PubMed id 11463391)1, 2, 9 Yu J.... Vogelstein B. (2001)
    4. PUMA binding induces partial unfolding within BCL-xL to disrupt p53 binding and promote apoptosis. (PubMed id 23340338)1, 2 Follis A.V....Kriwacki R.W. (2013)
    5. Expressional and mutational analysis of pro-apoptotic Bcl-2 member PUMA in hepatocellular carcinomas. (PubMed id 17934815)1, 9 Ahn C.H....Lee S.H. (2008)
    6. Pro-apoptotic PUMA and anti-apoptotic phospho-BAD are highly expressed in colorectal carcinomas. (PubMed id 17393317)1, 9 Kim M.R....Lee S.H. (2007)
    7. PUMA Dissociates Bax and Bcl-X(L) to induce apoptosis in colon cancer cells. (PubMed id 16608847)1, 9 Ming L....Zhang L. (2006)
    8. BBC3 mediates fenretinide-induced cell death in neuroblastoma. (PubMed id 16091745)1, 9 Wei J.S....Khan J. (2005)
    9. Bax activation by the BH3-only protein Puma promotes cell dependence on antiapoptotic Bcl-2 family members. (PubMed id 19380879)1, 9 Gallenne T....Juin P. (2009)
    10. PUMA mediates the apoptotic response to p53 in colorectal cancer cells. (PubMed id 12574499)1, 9 Yu J....Zhang L. (2003)

    (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: 27113 HGNC: 17868 AceView: BBC3 Ensembl:ENSG00000105327 euGenes: HUgn27113
    ECgene: BBC3 Kegg: 27113 H-InvDB: BBC3

    (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 BBC3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BBC3 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 BBC3 gene:
    Search GeneIP for patents involving BBC3

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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     Regulatory tfbs in BBC3 promoter
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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