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BCL2 B-cell CLL/lymphoma 2 [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_000633 Homo sapiens B-cell CLL/lymphoma 2 (BCL2), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA. Full Length $2921.40
ORF Sequence $208.80
NM_000657 Homo sapiens B-cell CLL/lymphoma 2 (BCL2), nuclear gene encoding mitochondrial protein, transcript variant beta, mRNA. Full Length $350.03
ORF Sequence $179.22


Gene Symbol BCL2
Entrez Gene ID 596
Full Name B-cell CLL/lymphoma 2
Synonyms Bcl-2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

18

18q21.33|18q21.3

Summary 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. Two transcript variants, produced by alternate splicing, differ in their C-terminal ends. [provided by RefSeq].
Disorder

MIM: 151430

Leukemia/lymphoma, B-cell, 2 (3)

mRNA NM_000633, 72198188
Protein NP_000624, 72198189
Product apoptosis regulator Bcl-2 alpha isoform
RefSeq Status REVIEWED
mRNA NM_000657, 72198345
Protein NP_000648, 72198346
Product apoptosis regulator Bcl-2 beta isoform
RefSeq Status REVIEWED
KEGG
hsa04141Protein processing in endoplasmic reticulum
hsa04210Apoptosis
hsa05222Small cell lung cancer
hsa05014Amyotrophic lateral sclerosis (ALS)
hsa04722Neurotrophin signaling pathway
hsa05145Toxoplasmosis
hsa05210Colorectal cancer
hsa05200Pathways in cancer
hsa05215Prostate cancer
hsa04510Focal adhesion
WikiPathways
WP615Senescence and Autophagy
WP254Apoptosis
WP712Estrogen signaling pathway
WP286IL-3 Signaling Pathway
WP23B Cell Receptor Signaling Pathway
WP306Focal Adhesion
WP49IL-2 Signaling Pathway
WP314FAS pathway and Stress induction of HSP regulation
Pathway Interaction Database
nfat_3pathwayRole of Calcineurin-dependent NFAT signaling in lymphocytes
hivnefpathwayHIV-1 Nef: Negative effector of Fas and TNF-alpha
il2_1pathwayIL2-mediated signaling events
cmyb_pathwayC-MYB transcription factor network
ceramide_pathwayCeramide signaling pathway
kitpathwaySignaling events mediated by Stem cell factor receptor (c-Kit)
atf2_pathwayATF-2 transcription factor network
il2_stat5pathwayIL2 signaling events mediated by STAT5
caspase_pathwayCaspase cascade in apoptosis
il2_pi3kpathwayIL2 signaling events mediated by PI3K
rxr_vdr_pathwayRXR and RAR heterodimerization with other nuclear receptor
epopathwayEPO signaling pathway
p53downstreampathwayDirect p53 effectors
myc_represspathwayValidated targets of C-MYC transcriptional repression
Reactome
REACT_578Apoptosis
REACT_330BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
REACT_549Activation of BAD and translocation to mitochondria
REACT_964Intrinsic Pathway for Apoptosis
REACT_697Activation of BH3-only proteins
Homo sapiens (human)BCL2NP_000624.2
Pan troglodytes (chimpanzee)BCL2XP_001145537.1
Canis lupus familiaris (dog)BCL2NP_001002949.1
Bos taurus (cattle)BCL2XP_586976.3
Mus musculus (house mouse)Bcl2NP_033871.2
Rattus norvegicus (Norway rat)Bcl2NP_058689.1
Gallus gallus (chicken)BCL2NP_990670.1
Process
IDNameEvidence
GO:0000082G1/S transition of mitotic cell cycleIEA
GO:0000209protein polyubiquitinationIDA
GO:0000902cell morphogenesisIEA
GO:0001541ovarian follicle developmentIEA
GO:0001656metanephros developmentIEA
GO:0001657ureteric bud developmentIEA
GO:0001658branching involved in ureteric bud morphogenesisIEA
GO:0001662behavioral fear responseIEA
GO:0001666response to hypoxiaIEA
GO:0001782B cell homeostasisIEA
GO:0001836release of cytochrome c from mitochondriaISS
GO:0001836release of cytochrome c from mitochondriaNAS
GO:0001952regulation of cell-matrix adhesionIEA
GO:0002320lymphoid progenitor cell differentiationIEA
GO:0002326B cell lineage commitmentIEA
GO:0002360T cell lineage commitmentIEA
GO:0002520immune system developmentIEA
GO:0003014renal system processIEA
GO:0006470protein dephosphorylationIEA
GO:0006582melanin metabolic processIEA
GO:0006808regulation of nitrogen utilizationIEA
GO:0006915apoptosisTAS
GO:0006916anti-apoptosisIDA
GO:0006959humoral immune responseTAS
GO:0006974response to DNA damage stimulusIMP
GO:0006979response to oxidative stressIEA
GO:0007015actin filament organizationIEA
GO:0007565female pregnancyNAS
GO:0007569cell agingIEA
GO:0007584response to nutrientIEA
GO:0008219cell deathIDA
GO:0008284positive regulation of cell proliferationIEA
GO:0008584male gonad developmentIEA
GO:0008629induction of apoptosis by intracellular signalsTAS
GO:0008633activation of pro-apoptotic gene productsEXP
GO:0008633activation of pro-apoptotic gene productsTAS
GO:0009314response to radiationNAS
GO:0009408response to heatIEA
GO:0009605response to external stimulusIEA
GO:0009636response to toxinIDA
GO:0009791post-embryonic developmentIEA
GO:0009887organ morphogenesisIEA
GO:0010035response to inorganic substanceIEA
GO:0010039response to iron ionIDA
GO:0010044response to aluminum ionIEA
GO:0010224response to UV-BIEA
GO:0010332response to gamma radiationIEA
GO:0010468regulation of gene expressionIEA
GO:0010523negative regulation of calcium ion transport into cytosolIEA
GO:0010559regulation of glycoprotein biosynthetic processIEA
GO:0014031mesenchymal cell developmentIEA
GO:0014042positive regulation of neuron maturationIEA
GO:0014911positive regulation of smooth muscle cell migrationIEA
GO:0016337cell-cell adhesionIEA
GO:0018107peptidyl-threonine phosphorylationIEA
GO:0021747cochlear nucleus developmentIEA
GO:0022612gland morphogenesisIEA
GO:0022898regulation of transmembrane transporter activityIDA
GO:0030097hemopoiesisIEA
GO:0030279negative regulation of ossificationIEA
GO:0030307positive regulation of cell growthIDA
GO:0030308negative regulation of cell growthIEA
GO:0030336negative regulation of cell migrationIEA
GO:0030890positive regulation of B cell proliferationIMP
GO:0031000response to caffeineIEA
GO:0031069hair follicle morphogenesisIEA
GO:0031103axon regenerationIEA
GO:0031647regulation of protein stabilityIEA
GO:0032469endoplasmic reticulum calcium ion homeostasisIEA
GO:0032835glomerulus developmentIEA
GO:0032848negative regulation of cellular pH reductionIDA
GO:0032868response to insulin stimulusIEA
GO:0032880regulation of protein localizationIEA
GO:0033033negative regulation of myeloid cell apoptosisIEA
GO:0033077T cell differentiation in thymusIEA
GO:0033138positive regulation of peptidyl-serine phosphorylationIEA
GO:0033591response to L-ascorbic acidIEA
GO:0033689negative regulation of osteoblast proliferationIEA
GO:0034097response to cytokine stimulusIDA
GO:0034349glial cell apoptosisIEA
GO:0035094response to nicotineIDA
GO:0035265organ growthIEA
GO:0040018positive regulation of multicellular organism growthIEA
GO:0042100B cell proliferationIDA
GO:0042493response to drugIDA
GO:0042493response to drugIMP
GO:0042542response to hydrogen peroxideIEA
GO:0043029T cell homeostasisIEA
GO:0043066negative regulation of apoptosisIDA
GO:0043085positive regulation of catalytic activityIEA
GO:0043375CD8-positive, alpha-beta T cell lineage commitmentIEA
GO:0043496regulation of protein homodimerization activityIDA
GO:0043497regulation of protein heterodimerization activityIDA
GO:0043524negative regulation of neuron apoptosisIDA
GO:0043583ear developmentIEA
GO:0043627response to estrogen stimulusIEA
GO:0045069regulation of viral genome replicationIEA
GO:0045471response to ethanolIEA
GO:0045636positive regulation of melanocyte differentiationIEA
GO:0045930negative regulation of mitotic cell cycleIEA
GO:0046671negative regulation of retinal cell programmed cell deathIEA
GO:0046688response to copper ionIEA
GO:0046902regulation of mitochondrial membrane permeabilityISS
GO:0048041focal adhesion assemblyIEA
GO:0048087positive regulation of developmental pigmentationIEA
GO:0048536spleen developmentIEA
GO:0048538thymus developmentIEA
GO:0048546digestive tract morphogenesisIEA
GO:0048589developmental growthIEA
GO:0048599oocyte developmentIEA
GO:0048743positive regulation of skeletal muscle fiber developmentIEA
GO:0048753pigment granule organizationIEA
GO:0048873homeostasis of number of cells within a tissueIEA
GO:0050853B cell receptor signaling pathwayIMP
GO:0051402neuron apoptosisTAS
GO:0051412response to corticosterone stimulusIEA
GO:0051593response to folic acidIEA
GO:0051607defense response to virusIDA
GO:0051726regulation of cell cycleIEA
GO:0051789response to protein stimulusIEA
GO:0051881regulation of mitochondrial membrane potentialISS
GO:0051902negative regulation of mitochondrial depolarizationTAS
GO:0051924regulation of calcium ion transportIDA
GO:0070059apoptosis in response to endoplasmic reticulum stressIDA
Component
IDNameEvidence
GO:0005622intracellularIEA
GO:0005624membrane fractionIEA
GO:0005634nucleusIDA
GO:0005737cytoplasmIDA
GO:0005739mitochondrionIDA
GO:0005741mitochondrial outer membraneEXP
GO:0005741mitochondrial outer membraneIDA
GO:0005741mitochondrial outer membraneTAS
GO:0005783endoplasmic reticulumIDA
GO:0005789endoplasmic reticulum membraneIEA
GO:0005792microsomeIEA
GO:0005829cytosolIEA
GO:0016020membraneIDA
GO:0031965nuclear membraneIDA
GO:0043209myelin sheathIEA
GO:0046930pore complexIDA
Function
IDNameEvidence
GO:0002020protease bindingIDA
GO:0005515protein bindingIPI
GO:0008134transcription factor bindingIEA
GO:0015267channel activityIDA
GO:0042802identical protein bindingIPI
GO:0042803protein homodimerization activityIPI
GO:0043565sequence-specific DNA bindingIDA
GO:0046982protein heterodimerization activityIPI
GO:0051434BH3 domain bindingIPI
GO:0051721protein phosphatase 2A bindingIEA
GeneCards BCL2
PDB 1YSW, 2XA0, 1G5M, 1GJH, 2O21, 2O2F, 2W3L, 2O22
UniProt C9JHD5, P10415
MIM 151430
Ensembl ENSG00000171791
HGNC 990
HPRD 01045

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