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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes FDA approved drug targets Human disease related genes Plasma proteins Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
18
Cytoband
q21.33
Chromosome location (bp)
63123346 - 63320128
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Suppresses apoptosis in a variety of cell systems including factor-dependent lymphohematopoietic and neural cells 1,2. Regulates cell death by controlling the mitochondrial membrane permeability 3. Appears to function in a feedback loop system with caspases 4. 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) 5. Also acts as an inhibitor of autophagy: interacts with BECN1 and AMBRA1 during non-starvation conditions and inhibits their autophagy function 6,7,8. May attenuate inflammation by impairing NLRP1-inflammasome activation, hence CASP1 activation and IL1B release 9....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Apoptosis, Autophagy
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Transporters Transporter channels and pores Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 2TM proteins predicted by MDM Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cancers Head and neck cancers Cancers of the lung and pleura Cancers of soft tissues and bone Cancers of the breast and female genital organs Cancers of haematopoietic and lymphoid tissues Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000082[G1/S transition of mitotic cell cycle] GO:0000209[protein polyubiquitination] GO:0000278[mitotic cell cycle] GO:0000902[cell morphogenesis] GO:0001503[ossification] GO:0001541[ovarian follicle development] GO:0001656[metanephros development] GO:0001657[ureteric bud development] GO:0001658[branching involved in ureteric bud morphogenesis] GO:0001662[behavioral fear response] GO:0001776[leukocyte homeostasis] GO:0001782[B cell homeostasis] GO:0001783[B cell apoptotic process] GO:0001822[kidney development] GO:0001836[release of cytochrome c from mitochondria] GO:0001952[regulation of cell-matrix adhesion] GO:0002020[protease binding] GO:0002260[lymphocyte homeostasis] GO:0002320[lymphoid progenitor cell differentiation] GO:0002326[B cell lineage commitment] GO:0002360[T cell lineage commitment] GO:0002520[immune system development] GO:0002903[negative regulation of B cell apoptotic process] GO:0002931[response to ischemia] GO:0003014[renal system process] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005829[cytosol] GO:0006470[protein dephosphorylation] GO:0006582[melanin metabolic process] GO:0006808[regulation of nitrogen utilization] GO:0006874[cellular calcium ion homeostasis] GO:0006915[apoptotic process] GO:0006959[humoral immune response] GO:0006974[cellular response to DNA damage stimulus] GO:0006979[response to oxidative stress] GO:0007015[actin filament organization] GO:0007409[axonogenesis] GO:0007565[female pregnancy] GO:0008283[cell population proliferation] GO:0008284[positive regulation of cell population proliferation] GO:0008285[negative regulation of cell population proliferation] GO:0008584[male gonad development] GO:0008625[extrinsic apoptotic signaling pathway via death domain receptors] GO:0008630[intrinsic apoptotic signaling pathway in response to DNA damage] GO:0008631[intrinsic apoptotic signaling pathway in response to oxidative stress] GO:0008637[apoptotic mitochondrial changes] GO:0009314[response to radiation] GO:0009410[response to xenobiotic stimulus] GO:0009605[response to external stimulus] GO:0009636[response to toxic substance] GO:0009791[post-embryonic development] GO:0009887[animal organ morphogenesis] GO:0010039[response to iron ion] GO:0010224[response to UV-B] GO:0010332[response to gamma radiation] GO:0010468[regulation of gene expression] GO:0010506[regulation of autophagy] GO:0010507[negative regulation of autophagy] GO:0010523[negative regulation of calcium ion transport into cytosol] GO:0010559[regulation of glycoprotein biosynthetic process] GO:0014031[mesenchymal cell development] GO:0014042[positive regulation of neuron maturation] GO:0014070[response to organic cyclic compound] GO:0014909[smooth muscle cell migration] GO:0014911[positive regulation of smooth muscle cell migration] GO:0015267[channel activity] GO:0016020[membrane] GO:0016248[channel inhibitor activity] GO:0016477[cell migration] GO:0018105[peptidyl-serine phosphorylation] GO:0018107[peptidyl-threonine phosphorylation] GO:0019903[protein phosphatase binding] GO:0021747[cochlear nucleus development] GO:0022612[gland morphogenesis] GO:0022898[regulation of transmembrane transporter activity] GO:0030097[hemopoiesis] GO:0030183[B cell differentiation] GO:0030217[T cell differentiation] GO:0030279[negative regulation of ossification] GO:0030307[positive regulation of cell growth] GO:0030308[negative regulation of cell growth] GO:0030318[melanocyte differentiation] GO:0030336[negative regulation of cell migration] GO:0030890[positive regulation of B cell proliferation] GO:0031069[hair follicle morphogenesis] GO:0031103[axon regeneration] GO:0031625[ubiquitin protein ligase binding] GO:0031647[regulation of protein stability] GO:0031965[nuclear membrane] GO:0031966[mitochondrial membrane] GO:0032469[endoplasmic reticulum calcium ion homeostasis] GO:0032835[glomerulus development] GO:0032848[negative regulation of cellular pH reduction] GO:0032880[regulation of protein localization] GO:0032991[protein-containing complex] GO:0033028[myeloid cell apoptotic process] GO:0033033[negative regulation of myeloid cell apoptotic process] GO:0033077[T cell differentiation in thymus] GO:0033138[positive regulation of peptidyl-serine phosphorylation] GO:0033687[osteoblast proliferation] GO:0033689[negative regulation of osteoblast proliferation] GO:0034097[response to cytokine] GO:0035094[response to nicotine] GO:0035265[organ growth] GO:0040008[regulation of growth] GO:0040018[] GO:0042100[B cell proliferation] GO:0042149[cellular response to glucose starvation] GO:0042542[response to hydrogen peroxide] GO:0042551[neuron maturation] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0042981[regulation of apoptotic process] GO:0043029[T cell homeostasis] GO:0043065[positive regulation of apoptotic process] GO:0043066[negative regulation of apoptotic process] GO:0043067[regulation of programmed cell death] GO:0043085[positive regulation of catalytic activity] GO:0043200[response to amino acid] GO:0043209[myelin sheath] GO:0043375[CD8-positive, alpha-beta T cell lineage commitment] GO:0043473[pigmentation] GO:0043524[negative regulation of neuron apoptotic process] GO:0043565[sequence-specific DNA binding] GO:0043583[ear development] GO:0045069[regulation of viral genome replication] GO:0045636[positive regulation of melanocyte differentiation] GO:0045930[negative regulation of mitotic cell cycle] GO:0046666[retinal cell programmed cell death] GO:0046671[negative regulation of retinal cell programmed cell death] GO:0046902[regulation of mitochondrial membrane permeability] GO:0046930[pore complex] GO:0046982[protein heterodimerization activity] GO:0048041[focal adhesion assembly] GO:0048066[developmental pigmentation] GO:0048070[regulation of developmental pigmentation] GO:0048087[positive regulation of developmental pigmentation] GO:0048536[spleen development] GO:0048538[thymus development] GO:0048545[response to steroid hormone] GO:0048546[digestive tract morphogenesis] GO:0048589[developmental growth] GO:0048599[oocyte development] GO:0048741[skeletal muscle fiber development] GO:0048743[positive regulation of skeletal muscle fiber development] GO:0048753[pigment granule organization] GO:0048864[stem cell development] GO:0048873[homeostasis of number of cells within a tissue] GO:0050790[regulation of catalytic activity] GO:0050853[B cell receptor signaling pathway] GO:0051384[response to glucocorticoid] GO:0051402[neuron apoptotic process] GO:0051434[BH3 domain binding] GO:0051607[defense response to virus] GO:0051649[establishment of localization in cell] GO:0051721[protein phosphatase 2A binding] GO:0051726[regulation of cell cycle] GO:0051881[regulation of mitochondrial membrane potential] GO:0051902[negative regulation of mitochondrial depolarization] GO:0051924[regulation of calcium ion transport] GO:0060090[molecular adaptor activity] GO:0060218[hematopoietic stem cell differentiation] GO:0060402[calcium ion transport into cytosol] GO:0070059[intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress] GO:0070227[lymphocyte apoptotic process] GO:0070229[negative regulation of lymphocyte apoptotic process] GO:0070231[T cell apoptotic process] GO:0070233[negative regulation of T cell apoptotic process] GO:0070997[neuron death] GO:0071310[cellular response to organic substance] GO:0071456[cellular response to hypoxia] GO:0072593[reactive oxygen species metabolic process] GO:0097048[dendritic cell apoptotic process] GO:0097049[motor neuron apoptotic process] GO:0097138[BAD-BCL-2 complex] GO:0097192[extrinsic apoptotic signaling pathway in absence of ligand] GO:0098609[cell-cell adhesion] GO:0140297[DNA-binding transcription factor binding] GO:1901215[negative regulation of neuron death] GO:1902166[negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator] GO:1904019[epithelial cell apoptotic process] GO:1904036[negative regulation of epithelial cell apoptotic process] GO:2000134[negative regulation of G1/S transition of mitotic cell cycle] GO:2000378[negative regulation of reactive oxygen species metabolic process] GO:2000669[negative regulation of dendritic cell apoptotic process] GO:2000672[negative regulation of motor neuron apoptotic process] GO:2000811[negative regulation of anoikis] GO:2001233[regulation of apoptotic signaling pathway] 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]
Transporters Transporter channels and pores Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 2TM proteins predicted by MDM Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cancers Head and neck cancers Cancers of the lung and pleura Cancers of soft tissues and bone Cancers of the breast and female genital organs Cancers of haematopoietic and lymphoid tissues Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000209[protein polyubiquitination] GO:0001836[release of cytochrome c from mitochondria] GO:0002020[protease binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0006915[apoptotic process] GO:0006959[humoral immune response] GO:0006974[cellular response to DNA damage stimulus] GO:0007565[female pregnancy] GO:0008284[positive regulation of cell population proliferation] 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:0009410[response to xenobiotic stimulus] GO:0009605[response to external stimulus] GO:0009636[response to toxic substance] GO:0010039[response to iron ion] GO:0010507[negative regulation of autophagy] GO:0015267[channel activity] GO:0016020[membrane] GO:0016248[channel inhibitor activity] GO:0022898[regulation of transmembrane transporter activity] GO:0030307[positive regulation of cell growth] GO:0030890[positive regulation of B cell proliferation] GO:0031625[ubiquitin protein ligase binding] GO:0031965[nuclear membrane] GO:0032469[endoplasmic reticulum calcium ion homeostasis] GO:0032848[negative regulation of cellular pH reduction] GO:0032991[protein-containing complex] GO:0034097[response to cytokine] GO:0035094[response to nicotine] GO:0042100[B cell proliferation] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0042981[regulation of apoptotic process] GO:0043065[positive regulation of apoptotic process] GO:0043066[negative regulation of apoptotic process] GO:0043524[negative regulation of neuron apoptotic process] GO:0043565[sequence-specific DNA binding] GO:0046902[regulation of mitochondrial membrane permeability] GO:0046930[pore complex] GO:0046982[protein heterodimerization activity] GO:0050853[B cell receptor signaling pathway] GO:0051402[neuron apoptotic process] GO:0051434[BH3 domain binding] 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:0060090[molecular adaptor activity] GO:0070059[intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress] GO:0097138[BAD-BCL-2 complex] GO:0097192[extrinsic apoptotic signaling pathway in absence of ligand] GO:0140297[DNA-binding transcription factor binding] GO:1902166[negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator] GO:2000811[negative regulation of anoikis] GO:2001233[regulation of apoptotic signaling pathway] 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]
Transporters Transporter channels and pores MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cancers Head and neck cancers Cancers of the lung and pleura Cancers of soft tissues and bone Cancers of the breast and female genital organs Cancers of haematopoietic and lymphoid tissues Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000209[protein polyubiquitination] GO:0001836[release of cytochrome c from mitochondria] GO:0002020[protease binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0006915[apoptotic process] GO:0006959[humoral immune response] GO:0006974[cellular response to DNA damage stimulus] GO:0007565[female pregnancy] GO:0008284[positive regulation of cell population proliferation] 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:0009410[response to xenobiotic stimulus] GO:0009605[response to external stimulus] GO:0009636[response to toxic substance] GO:0010039[response to iron ion] GO:0010507[negative regulation of autophagy] GO:0015267[channel activity] GO:0016020[membrane] GO:0016248[channel inhibitor activity] GO:0022898[regulation of transmembrane transporter activity] GO:0030307[positive regulation of cell growth] GO:0030890[positive regulation of B cell proliferation] GO:0031625[ubiquitin protein ligase binding] GO:0031965[nuclear membrane] GO:0032469[endoplasmic reticulum calcium ion homeostasis] GO:0032848[negative regulation of cellular pH reduction] GO:0032991[protein-containing complex] GO:0034097[response to cytokine] GO:0035094[response to nicotine] GO:0042100[B cell proliferation] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0042981[regulation of apoptotic process] GO:0043065[positive regulation of apoptotic process] GO:0043066[negative regulation of apoptotic process] GO:0043524[negative regulation of neuron apoptotic process] GO:0043565[sequence-specific DNA binding] GO:0046902[regulation of mitochondrial membrane permeability] GO:0046930[pore complex] GO:0046982[protein heterodimerization activity] GO:0050853[B cell receptor signaling pathway] GO:0051402[neuron apoptotic process] GO:0051434[BH3 domain binding] 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:0060090[molecular adaptor activity] GO:0070059[intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress] GO:0097138[BAD-BCL-2 complex] GO:0097192[extrinsic apoptotic signaling pathway in absence of ligand] GO:0140297[DNA-binding transcription factor binding] GO:1902166[negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator] GO:2000811[negative regulation of anoikis] GO:2001233[regulation of apoptotic signaling pathway] 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]
MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Head and neck cancers Cancers of the lung and pleura Cancers of soft tissues and bone Cancers of the breast and female genital organs Cancers of haematopoietic and lymphoid tissues Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Head and neck cancers Cancers of the lung and pleura Cancers of soft tissues and bone Cancers of the breast and female genital organs Cancers of haematopoietic and lymphoid tissues Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins