Gene Gene information from NCBI Gene database.
Entrez ID 27113
Gene name BCL2 binding component 3
Gene symbol BBC3
Synonyms (NCBI Gene)
JFY-1JFY1PUMA
Chromosome 19
Chromosome location 19q13.32
Summary 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
miRNA miRNA information provided by mirtarbase database.
501
miRTarBase ID miRNA Experiments Reference
MIRT004500 hsa-miR-483-3p qRT-PCRLuciferase reporter assayWestern blotNorthern blot 20388800
MIRT003367 hsa-miR-221-3p ImmunohistochemistryIn situ hybridizationLuciferase reporter assayNorthern blotWestern blot 20813046
MIRT005369 hsa-miR-222-3p ImmunohistochemistryIn situ hybridizationLuciferase reporter assayNorthern blotWestern blot 20813046
MIRT005915 hsa-miR-125b-5p Luciferase reporter assayqRT-PCRWestern blot 20886540
MIRT006683 hsa-miR-296-5p Luciferase reporter assayqRT-PCRWestern blot 21633093
Transcription factors Transcription factors information provided by TRRUST V2 database.
8
Transcription factor Regulation Reference
CTCF Unknown 20818159
E2F1 Activation 17263886
ETV6 Activation 16828711
FOXO3 Unknown 21654193
TCF3 Repression 23684607
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
52
GO ID Ontology Definition Evidence Reference
GO:0001836 Process Release of cytochrome c from mitochondria IBA
GO:0001836 Process Release of cytochrome c from mitochondria IDA 11463392
GO:0005515 Function Protein binding IPI 11463391, 11463392, 15694340, 16151013, 16608847, 16697956, 17177603, 17289999, 20153921, 20627101, 22516262, 26212789, 26431330, 28514442, 32296183
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605854 17868 ENSG00000105327
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96PG8
Protein name Bcl-2-binding component 3, isoforms 3/4 (JFY-1) (p53 up-regulated modulator of apoptosis)
Protein function [Isoform 3]: Does not affect cell growth.
Family and domains
Sequence
MKFGMGSAQACPCQVPRAASTTWVPCQICGPRERHGPRTPGGQLPGARRGPGPRRPAPLP
ARPPGALGSVLRPLRARPGCRPRRPHPAARCLPLRPHRPTRRHRRPGGFPLAWGSPQPAP
RPAPGRSSALALAGGAAPGVARAQRPGGSGGRSHPGGPGSPRGGGTVGPGDRGPAAADGG
RPQRTVRAAETRGAAAAPPLTLEGPVQSHHGTPALTQGPQSPRDGAQLGACTRPVDVRDS
GGRPLPPPDTLASAGDFLCTM
Sequence length 261
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BXH1
Protein name Bcl-2-binding component 3, isoforms 1/2 (JFY-1) (p53 up-regulated modulator of apoptosis)
Protein function Essential mediator of p53/TP53-dependent and p53/TP53-independent apoptosis (PubMed:11463391, PubMed:23340338). Promotes partial unfolding of BCL2L1 and dissociation of BCL2L1 from p53/TP53, releasing the bound p53/TP53 to induce apoptosis (PubM
PDB 2M04 , 4BPI , 4BPJ , 4BPK , 4HNJ , 5UUL , 6QFM , 6QG8 , 6TQP , 7DVD , 7P0S , 7P9W , 7QTX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15826 PUMA 2 193 Bcl-2-binding component 3, p53 upregulated modulator of apoptosis Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:11463391}.
Sequence
Sequence length 193
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Platinum drug resistance
p53 signaling pathway
Apoptosis
Apoptosis - multiple species
Hippo signaling pathway
Huntington disease
Measles
Pathways in cancer
Colorectal cancer
  BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
Activation of PUMA and translocation to mitochondria
TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
FOXO-mediated transcription of cell death genes
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN ISCHEMIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BURKITT LYMPHOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 17267315
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 17267315
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 28277192
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 21859927 Associate
★☆☆☆☆
Found in Text Mining only
Adult Hepatocellular Carcinoma Liver carcinoma BEFREE 17934815
★☆☆☆☆
Found in Text Mining only
African Burkitt`s lymphoma African Burkitt`s Lymphoma CTD_human_DG 18573879
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 21859927, 28277192
★☆☆☆☆
Found in Text Mining only
AICARDI-GOUTIERES SYNDROME Aicardi Goutieres Syndrome BEFREE 17149756
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 28682312
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 23321162, 28803777
★☆☆☆☆
Found in Text Mining only