Homo sapiens Protein: BCL2
Summary
InnateDB Protein IDBP-4356.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BCL2
Protein Name B-cell CLL/lymphoma 2
Synonyms Bcl-2; PPP1R50;
Species Homo sapiens
Ensembl Protein ENSP00000329623
InnateDB Gene IDBG-4354 (BCL2)
Protein Structure
UniProt Annotation
Function Suppresses apoptosis in a variety of cell systems including factor-dependent lymphohematopoietic and neural cells. Regulates cell death by controlling the mitochondrial membrane permeability. Appears to function in a feedback loop system with caspases. Inhibits caspase activity either by preventing the release of cytochrome c from the mitochondria and/or by binding to the apoptosis-activating factor (APAF-1). {ECO:0000269PubMed:18570871}.
Subcellular Localization Mitochondrion outer membrane {ECO:0000269PubMed:2250705}; Single-pass membrane protein {ECO:0000269PubMed:2250705}. Nucleus membrane {ECO:0000269PubMed:2250705}; Single-pass membrane protein {ECO:0000269PubMed:2250705}. Endoplasmic reticulum membrane {ECO:0000269PubMed:2250705}; Single-pass membrane protein {ECO:0000269PubMed:2250705}.
Disease Associations Note=A chromosomal aberration involving BCL2 has been found in chronic lymphatic leukemia. Translocation t(14;18)(q32;q21) with immunoglobulin gene regions. BCL2 mutations found in non-Hodgkin lymphomas carrying the chromosomal translocation could be attributed to the Ig somatic hypermutation mechanism resulting in nucleotide transitions.
Tissue Specificity Expressed in a variety of tissues.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 196 experimentally validated interaction(s) in this database.
They are also associated with 44 interaction(s) predicted by orthology.
Experimentally validated
Total 196 [view]
Protein-Protein 179 [view]
Protein-DNA 14 [view]
Protein-RNA 0
DNA-DNA 3 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 44 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0002020 protease binding
GO:0005515 protein binding
GO:0015267 channel activity
GO:0016248 channel inhibitor activity
GO:0031625 ubiquitin protein ligase binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0043565 sequence-specific DNA binding
GO:0046982 protein heterodimerization activity
GO:0051434 BH3 domain binding
Biological Process
GO:0000209 protein polyubiquitination
GO:0001836 release of cytochrome c from mitochondria
GO:0006915 apoptotic process
GO:0006959 humoral immune response
GO:0006974 cellular response to DNA damage stimulus
GO:0007565 female pregnancy
GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage
GO:0009314 response to radiation
GO:0009636 response to toxic substance
GO:0010039 response to iron ion
GO:0010507 negative regulation of autophagy
GO:0022898 regulation of transmembrane transporter activity
GO:0030307 positive regulation of cell growth
GO:0030890 positive regulation of B cell proliferation
GO:0032469 endoplasmic reticulum calcium ion homeostasis
GO:0032848 negative regulation of cellular pH reduction
GO:0034097 response to cytokine
GO:0035094 response to nicotine
GO:0035872 nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway
GO:0042100 B cell proliferation
GO:0042493 response to drug
GO:0042981 regulation of apoptotic process
GO:0043066 negative regulation of apoptotic process
GO:0043496 regulation of protein homodimerization activity
GO:0043497 regulation of protein heterodimerization activity
GO:0043524 negative regulation of neuron apoptotic process
GO:0045087 innate immune response (InnateDB)
GO:0046902 regulation of mitochondrial membrane permeability
GO:0050853 B cell receptor signaling pathway
GO:0051402 neuron apoptotic process
GO:0051607 defense response to virus
GO:0051881 regulation of mitochondrial membrane potential
GO:0051902 negative regulation of mitochondrial depolarization
GO:0051924 regulation of calcium ion transport
GO:0055085 transmembrane transport
GO:0070059 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
GO:0097193 intrinsic apoptotic signaling pathway
GO:1900740 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway
GO:2000811 negative regulation of anoikis
GO:2001234 negative regulation of apoptotic signaling pathway
GO:2001240 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
GO:2001243 negative regulation of intrinsic apoptotic signaling pathway
GO:2001244 positive regulation of intrinsic apoptotic signaling pathway
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0031965 nuclear membrane
GO:0046930 pore complex
Protein Structure and Domains
PDB ID
InterPro IPR002475 Bcl2-like
IPR003093 Apoptosis regulator, Bcl-2 protein, BH4
IPR004725 Apoptosis regulator, Bcl-2/ BclX
IPR013278 Apoptosis regulator, Bcl-2
IPR013279 Apoptosis regulator, Bcl-X
IPR026298 Blc2 family
PFAM PF02180
PF00452
PRINTS PR01863
PR01864
PR01862
PIRSF
SMART SM00265
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P10415
PhosphoSite PhosphoSite-P10415
TrEMBL Q96PA0
UniProt Splice Variant
Entrez Gene 596
UniGene Hs.709992
RefSeq
HUGO HGNC:990
OMIM 151430
CCDS CCDS11981
HPRD 01045
IMGT
EMBL AC021803 AC022726 AF401211 AY220759 BC027258 CH471096 M13994 M13995 M14745 S72602 X06487
GenPept AAA35591 AAA51813 AAA51814 AAD14111 AAH27258 AAL02169 AAO26045 CAA29778 EAW63136 EAW63137 EAW63138