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 pr... See more...

Aliases for BBC3 Gene

Aliases for BBC3 Gene

  • BCL2 Binding Component 3 2 3 5
  • P53 Up-Regulated Modulator Of Apoptosis 3 4
  • P53-Upregulated Modulator Of Apoptosis 2 3
  • JFY-1 3 4
  • PUMA 3 4
  • Bcl-2-Binding Component 3, Isoforms 3/4 4
  • Bcl-2-Binding Component 3, Isoforms 1/2 4
  • Bcl-2-Binding Component 3 3
  • JFY1 3

External Ids for BBC3 Gene

Previous GeneCards Identifiers for BBC3 Gene

  • GC19M048367
  • GC19M048114
  • GC19M052400
  • GC19M052415
  • GC19M047724
  • GC19M044148

Summaries for BBC3 Gene

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 Colorectal Cancer and Burkitt Lymphoma. Among its related pathways are Direct p53 effectors and CDK-mediated phosphorylation and removal of Cdc6.

UniProtKB/Swiss-Prot Summary for BBC3 Gene

  • [Isoform 3]: Does not affect cell growth.
  • Essential mediator of p53/TP53-dependent and p53/TP53-independent apoptosis (PubMed:11463391). Functions by promoting partial unfolding of BCL2L1 and dissociation of BCL2L1 from p53/TP53. Regulates ER stress-induced neuronal apoptosis (PubMed:23340338).

Gene Wiki entry for BBC3 Gene

Additional gene information for BBC3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BBC3 Gene

Genomics for BBC3 Gene

GeneHancer (GH) Regulatory Elements for BBC3 Gene

Promoters and enhancers for BBC3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BBC3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BBC3

Top Transcription factor binding sites by QIAGEN in the BBC3 gene promoter:
  • Sp1
  • STAT3

Genomic Locations for BBC3 Gene

Genomic Locations for BBC3 Gene
chr19:47,220,822-47,232,996
(GRCh38/hg38)
Size:
12,175 bases
Orientation:
Minus strand
chr19:47,724,079-47,736,023
(GRCh37/hg19)
Size:
11,945 bases
Orientation:
Minus strand

Genomic View for BBC3 Gene

Genes around BBC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BBC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BBC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BBC3 Gene

Proteins for BBC3 Gene

  • Protein details for BBC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXH1-BBC3_HUMAN
    Recommended name:
    Bcl-2-binding component 3, isoforms 1/2
    Protein Accession:
    Q9BXH1
    Secondary Accessions:
    • B9EGI3
    • O00171
    • Q96PG9

    Protein attributes for BBC3 Gene

    Size:
    193 amino acids
    Molecular mass:
    20532 Da
    Quaternary structure:
    • Interacts with MCL1 and BCL2A1 (By similarity). Interacts (via BH3 domain) with BCL2 (PubMed:11463391). Interacts with BCL2L1/BCL-XL (PubMed:23340338). Interacts (via BH3 domain) with NOL3/ARC (via CARD domain); this interaction prevents BBC3 association with BCL2 and results in CASP8 activation (By similarity).

    Three dimensional structures from OCA and Proteopedia for BBC3 Gene

    Alternative splice isoforms for BBC3 Gene

    UniProtKB/Swiss-Prot:
  • Protein details for BBC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PG8-BBC3B_HUMAN
    Recommended name:
    Bcl-2-binding component 3, isoforms 3/4
    Protein Accession:
    Q96PG8

    Protein attributes for BBC3 Gene

    Size:
    261 amino acids
    Molecular mass:
    26498 Da
    Quaternary structure:
    • [Isoform 3]: Does not interact with BCL2.

    Alternative splice isoforms for BBC3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BBC3 Gene

Post-translational modifications for BBC3 Gene

Antibody Products

No data available for DME Specific Peptides for BBC3 Gene

Domains & Families for BBC3 Gene

Gene Families for BBC3 Gene

Protein Domains for BBC3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BBC3 Gene

GenScript: Design optimal peptide antigens:
  • p53 up-regulated modulator of apoptosis (BBC3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96PG8

UniProtKB/Swiss-Prot:

BBC3B_HUMAN :
  • Contrary to isoforms 1 and 2, isoforms 3 and 4 do not contain any BH3 motif.
  • Belongs to the Bcl-2 family.
Domain:
  • Contrary to isoforms 1 and 2, isoforms 3 and 4 do not contain any BH3 motif.
  • The BH3 motif is intrinsically disordered.
Family:
  • Belongs to the Bcl-2 family.
genes like me logo Genes that share domains with BBC3: view

Function for BBC3 Gene

Molecular function for BBC3 Gene

UniProtKB/Swiss-Prot Function:
[Isoform 3]: Does not affect cell growth.
UniProtKB/Swiss-Prot Induction:
Up-regulated by TP53.
UniProtKB/Swiss-Prot Function:
Essential mediator of p53/TP53-dependent and p53/TP53-independent apoptosis (PubMed:11463391). Functions by promoting partial unfolding of BCL2L1 and dissociation of BCL2L1 from p53/TP53. Regulates ER stress-induced neuronal apoptosis (PubMed:23340338).
UniProtKB/Swiss-Prot Induction:
Up-regulated by TP53 (PubMed:11463392). Up-regulated by DNA damage, glucocorticoid treatment, growth factor deprivation and TP53 (PubMed:11572983). Up-regulated by ER stress in a DDIT3/CHOP-dependent manner (PubMed:22761832).

Phenotypes From GWAS Catalog for BBC3 Gene

Gene Ontology (GO) - Molecular Function for BBC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 26212789
GO:0051117 ATPase binding IPI 26212789
genes like me logo Genes that share ontologies with BBC3: view
genes like me logo Genes that share phenotypes with BBC3: view

Animal Models for BBC3 Gene

MGI Knock Outs for BBC3:

Animal Model Products

CRISPR Products

miRNA for BBC3 Gene

miRTarBase miRNAs that target BBC3

Clone Products

  • Addgene plasmids for BBC3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BBC3 Gene

Localization for BBC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BBC3 Gene

Mitochondrion. Note=Localized to the mitochondria in order to induce cytochrome c release.
Note=Contrary to isoforms 1 and 2, isoform 3 does not localize to the mitochondria.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BBC3 gene
Compartment Confidence
mitochondrion 5
cytosol 4
nucleus 3
endoplasmic reticulum 3
plasma membrane 2
extracellular 2
cytoskeleton 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BBC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS,IEA 26212789
GO:0005741 mitochondrial outer membrane TAS --
GO:0005764 colocalizes_with lysosome IDA 26212789
GO:0005783 endoplasmic reticulum IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with BBC3: view

Pathways & Interactions for BBC3 Gene

genes like me logo Genes that share pathways with BBC3: view

Pathways by source for BBC3 Gene

1 R&D Systems pathway for BBC3 Gene
4 Qiagen pathways for BBC3 Gene
  • Cellular Apoptosis Pathway
  • Mitochondrial Apoptosis
  • Molecular Mechanisms of Cancer
  • p53 Mediated Apoptosis
1 Cell Signaling Technology pathway for BBC3 Gene
2 GeneTex pathways for BBC3 Gene

SIGNOR curated interactions for BBC3 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for BBC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001836 release of cytochrome c from mitochondria IBA 21873635
GO:0001844 protein insertion into mitochondrial membrane involved in apoptotic signaling pathway TAS --
GO:0006915 apoptotic process IMP,IEA 26212789
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IDA,IBA 21873635
GO:0006974 cellular response to DNA damage stimulus ISS --
genes like me logo Genes that share ontologies with BBC3: view

Drugs & Compounds for BBC3 Gene

(2) Drugs for BBC3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for BBC3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BBC3: view

Transcripts for BBC3 Gene

mRNA/cDNA for BBC3 Gene

4 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for BBC3

Alternative Splicing Database (ASD) splice patterns (SP) for BBC3 Gene

No ASD Table

Relevant External Links for BBC3 Gene

GeneLoc Exon Structure for
BBC3

Expression for BBC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BBC3 Gene

mRNA differential expression in normal tissues according to GTEx for BBC3 Gene

This gene is overexpressed in Whole Blood (x5.2).

Protein differential expression in normal tissues from HIPED for BBC3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (51.3) and CD8 Tcells (14.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BBC3 Gene



Protein tissue co-expression partners for BBC3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BBC3

SOURCE GeneReport for Unigene cluster for BBC3 Gene:

Hs.467020

mRNA Expression by UniProt/SwissProt for BBC3 Gene:

Q9BXH1-BBC3_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for BBC3 Gene

  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with BBC3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BBC3 Gene

Orthologs for BBC3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BBC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BBC3 31 30
  • 99.48 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BBC3 30
  • 93.96 (n)
rat
(Rattus norvegicus)
Mammalia Bbc3 30
  • 89.29 (n)
mouse
(Mus musculus)
Mammalia Bbc3 17 30
  • 89.12 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.20864 30
Species where no ortholog for BBC3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for BBC3 Gene

ENSEMBL:
Gene Tree for BBC3 (if available)
TreeFam:
Gene Tree for BBC3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BBC3: view image

Paralogs for BBC3 Gene

No data available for Paralogs for BBC3 Gene

Variants for BBC3 Gene

Additional dbSNP identifiers (rs#s) for BBC3 Gene

Structural Variations from Database of Genomic Variants (DGV) for BBC3 Gene

Variant ID Type Subtype PubMed ID
esv26583 CNV loss 19812545
esv3413545 CNV duplication 20981092
nsv1067417 CNV gain 25217958
nsv819260 CNV loss 19587683
nsv833852 CNV loss 17160897

Variation tolerance for BBC3 Gene

Gene Damage Index Score: 0.71; 14.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BBC3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BBC3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BBC3 Gene

Disorders for BBC3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for BBC3 Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search BBC3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BBC3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BBC3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BBC3 Gene

Publications for BBC3 Gene

  1. Expression of bbc3, a pro-apoptotic BH3-only gene, is regulated by diverse cell death and survival signals. (PMID: 11572983) Han J … Chittenden T (Proceedings of the National Academy of Sciences of the United States of America 2001) 2 3 4 23 54
  2. PUMA induces the rapid apoptosis of colorectal cancer cells. (PMID: 11463391) Yu J … Vogelstein B (Molecular cell 2001) 3 4 23 54
  3. PUMA, a novel proapoptotic gene, is induced by p53. (PMID: 11463392) Nakano K … Vousden KH (Molecular cell 2001) 2 3 4 54
  4. PUMA binding induces partial unfolding within BCL-xL to disrupt p53 binding and promote apoptosis. (PMID: 23340338) Follis AV … Kriwacki RW (Nature chemical biology 2013) 3 4 54
  5. CHOP potentially co-operates with FOXO3a in neuronal cells to regulate PUMA and BIM expression in response to ER stress. (PMID: 22761832) Ghosh AP … Roth KA (PloS one 2012) 3 4 54

Products for BBC3 Gene