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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

BBC3 Gene

protein-coding GIFtS: 61
GCID: GC19M047724

BCL2 binding component 3

Explore 36 diseases affiliated with
BBC3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
BCL2 Binding Component 3¹ ²
PUMA¹ ² ³ ⁵
JFY1¹ ²
JFY-1² ³
P53 Up-Regulated Modulator Of Apoptosis² ³
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:

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)

UniProtKB/Swiss-Prot: BBC3_HUMAN, Q9BXH1

Function: Essential mediator of p53/TP53-dependent and p53/TP53-independent apoptosis. Regulates ER stress-induced

neuronal apoptosis (By similarity)

Gene Wiki entry for BBC3 (P53 upregulated modulator of apoptosis)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NC_018930.1 NT_011109.16

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 ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BXH1

BBC3 Protein expression data from MOPED and PaxDb: About this image

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:

	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 (see all 2): BBC3 OriGene Protein Over-expression Lysate (see all 2): 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 ProSpec Recombinant Proteins
	Uscn Proteins for BBC3

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IEA	--
GO:0005741	mitochondrial outer membrane	TAS	--
GO:0005829	cytosol	TAS	--

BBC3 for ontologies About GeneDecksing

BBC3 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of BBC3
	Browse R&D Systems for Antibodies
	OriGene Antibodies (see all 4): BBC3 OriGene Custom Antibody Services for BBC3
	GenScript Custom Superior Antibodies Services for BBC3
	Novus Biologicals BBC3 Antibodies
	Abcam antibodies for BBC3
	Uscn Antibodies for BBC3
	ThermoFisher Antibody for BBC3

Assay Products for BBC3:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for BBC3
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for BBC3

(According to 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

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,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: 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. Regulates ER stress-induced

neuronal apoptosis (By similarity)

Induction: By DNA damage, glucocorticoid treatment, growth factor deprivation and p53. By ER stress in a

DDIT3/CHOP-dependent manner

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

		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		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 plasmid: BBC3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BBC3 (see all 7) OriGene shRNA RFP: BBC3 OriGene siRNA: BBC3
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BBC3

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for BBC3

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BBC3 (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BBC3 (see all 4) 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

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for BBC3
		Search LifeMap BioReagents cell lines for BBC3

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBC3

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	--

BBC3 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for BBC3:

Increased cell number in G1, s

Animal Models:
Mouse knock-outs for BBC3: Bbc3^tm1Gpz Bbc3^tm1Ast
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

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/14 super-pathways (see all 14) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members

BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members	1.00	Intrinsic Pathway for Apoptosis	0.23
Activation of BH3-only proteins	0.30	Transactivation of PUMA by E2F1	0.12
Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins	0.24	Transactivation of PUMA by p53	0.12
Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins	0.24	Activation of PUMA and translocation to mitochondria	0.12

Apoptotic Pathways in Synovial Fibroblasts

	p53 Mediated Apoptosis	0.84			Cellular Apoptosis Pathway	0.65
	Mitochondrial Apoptosis	0.73

Integrated Pancreatic Cancer Pathway

Integrated Pancreatic Cancer Pathway

1.00

Integrated Pancreatic Cancer Pathway

0.99

Apoptosis Modulation and Signaling

Apoptosis Modulation and Signaling

1.00

Apoptosis

0.38

p53 signaling pathway

p53 signaling pathway

1.00

DNA damage response

0.40

Pathway sources
See GeneCards unified pathways
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)

	Apoptosis Modulation and Signaling
	DNA damage response
	Apoptosis
	TP53 network
	Integrated Pancreatic Cancer Pathway

5/7 Reactome Pathways for BBC3 (see all 7)

	Activation of BH3-only proteins
	Intrinsic Pathway for Apoptosis
	Transactivation of PUMA by E2F1
	Transactivation of PUMA by p53
	Activation of PUMA and translocation to mitochondria

1 PharmGKB Pathway for BBC3

Busulfan Pathway, Pharmacodynamics

3 Kegg Pathways (Kegg details for BBC3):

	p53 signaling pathway
	Huntington's disease
	Measles

BBC3 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM 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 (Q9BXH1^{1, 2, 3} ENSP00000404503⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 23)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
BCL2L2	Q92843¹^,³, ENSP00000250405⁴	EBI-519884,EBI-707714 I2D: score=4 STRING: ENSP00000250405
BCL2	P10415¹^,³, ENSP00000329623⁴	EBI-519884,EBI-77694 I2D: score=7 STRING: ENSP00000329623
BCL2L2-PABPN1	Q92843¹^,³	EBI-519884,EBI-707714 I2D: score=4
MCL1	Q07820¹^,³, ENSP00000358022⁴	EBI-519884,EBI-1003422 I2D: score=4 STRING: ENSP00000358022
BAX	Q07812³, ENSP00000293288⁴	I2D: score=3 STRING: ENSP00000293288

About this table

Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001836	release of cytochrome c from mitochondria	IDA	11463392
GO:0006915	apoptotic process	TAS	--
GO:0006917	induction of apoptosis	IDA	16608847
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	17024184
GO:0008340	determination 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, 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 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 235 Homo sapiens; Mar 10 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,
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, 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

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000449228(uc010xyl.2) ENST00000300880(uc010ekz.3) ENST00000341983(uc010eky.3)

ENST00000439096(uc002pgf.4)

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		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 plasmid: BBC3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BBC3 (see all 7) OriGene shRNA RFP: BBC3 OriGene siRNA: BBC3
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BBC3

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BBC3 (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BBC3 (see all 4) 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)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BBC3

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BBC3 Browse OriGene validated miRNA SYBR primer pairs
		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

Additional cDNA 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):

AI791900 AI784404 BM725137 CA315005 AA729307 BX280221 CA443400 AW088635

AF354656 AI821703 BE545472 BG258126 U82987 NM_014417 AF354655 AF332558

BM785931 CA313069 AF354654 BG391239 BX346254 AK124984 AI688112 AI469678

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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATTTTTGTAT

About this image

BBC3 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

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 Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BBC3 Browse OriGene validated miRNA SYBR primer pairs
		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 3/5 species (see all 5) 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
chicken (Gallus gallus)	Aves	--	Uncharacterized protein	14(a)	1 ↔ 1	6(15646467-15657246)
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, UniProtKB, 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

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs145283137^1,2		--	47723585(+)	`TGAGAC/TAGGGT`	4	--	ds500¹		0	--	--	--	--
rs147668754^1,2		--	47723609(+)	`CCAAGC/TTTGAG`	4	--	ds500¹		0	--	--	--	--
rs140440116^1,2	C,	--	47723730(+)	`GCTAA-/TTTT TTTTA`	4	--	ds500¹		0	--	--	--	--
rs73570519^1,2	C,F,	--	47723759(+)	`AGAGAC/TGGAGT`	4	--	ds500¹		3		WA	122
rs192706597^1,2		--	47723760(+)	`GAGACA/GGAGTT`	4	--	ds500¹		0	--	--	--	--
rs74710244^1,2	C,F,	--	47724112(+)	`AAGGAA/GACATA`	4	--	ut3¹		1		EA	120
rs60480476^1,2		--	47724408(+)	`GGGGGC/TGGTCA`	4	--	ut3¹		0	--	--	--	--
rs188608771^1,2		--	47724409(+)	`GGGGCA/GGTCAC`	4	--	ut3¹		0	--	--	--	--
rs116590103^1,2	F,	--	47724414(+)	`GGTCAC/TGGGCA`	4	--	ut3¹		1		WA	118
rs45474992^1,2	C,F,	--	47724564(+)	`TGGCTC/TCAGGA`	4	--	ut3¹		1		NA	120

HapMap Linkage Disequilibrium report for BBC3 (47724079 - 47736023 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for BBC3
2 CNVs: 67572 58883

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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BBC3 for disorders           About GeneDecksing

OMIM gene information: 605854    OMIM disorders: --

20/36 diseases for BBC3 (see all 36):    About MalaCards

traumatic brain injury brain injury alexia ataxia telangiectasia

chronic lymphocytic leukemia chronic myeloid leukemia lymphocytic leukemia myeloid leukemia

ulcerative colitis rheumatoid arthritis huntington's disease colorectal cancer

measles leukemia myeloma ataxia

hepatocellular carcinoma seizures colon cancer arthritis

6 Novoseek 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)

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 160):
(articles sorted by number of sources associating them with BBC3)

Utopia: connect your pdf to the dynamic
world of online information

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)
PUMA, a novel proapoptotic gene, is induced by p53. (PubMed id 11463392)^{1, 2, 3} Nakano K. and Wousden K.H. (2001)
PUMA induces the rapid apoptosis of colorectal cancer cells. (PubMed id 11463391)^{1, 2, 9} Yu J.... Vogelstein B. (2001)
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)
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)
PUMA Dissociates Bax and Bcl-X(L) to induce apoptosis in colon cancer cells. (PubMed id 16608847)^{1, 9} Ming L....Zhang L. (2006)
BBC3 mediates fenretinide-induced cell death in neuroblastoma. (PubMed id 16091745)^{1, 9} Wei J.S....Khan J. (2005)
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)
PUMA mediates the apoptotic response to p53 in colorectal cancer cells. (PubMed id 12574499)^{1, 9} Yu J....Zhang L. (2003)
p73 Induces apoptosis via PUMA transactivation and Bax mitochondrial translocation. (PubMed id 14634023)^{1, 9} Melino G....Vousden K.H. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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)
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(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

Name	Description
PharmGKB entry for BBC3	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for BBC3	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for BBC3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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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

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBC3

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ThermoFisher Antibody for BBC3

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BBC3

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