ENSG00000171791


Homo sapiens

Features
Gene ID: ENSG00000171791
  
Biological name :BCL2
  
Synonyms : BCL2 / BCL2, apoptosis regulator / P10415
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 18
Strand: -1
Band: q21.33
Gene start: 63123346
Gene end: 63320128
  
Corresponding Affymetrix probe sets: 203684_s_at (Human Genome U133 Plus 2.0 Array)   203685_at (Human Genome U133 Plus 2.0 Array)   207004_at (Human Genome U133 Plus 2.0 Array)   207005_s_at (Human Genome U133 Plus 2.0 Array)   244035_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000329623
Ensembl peptide - ENSP00000466417
Ensembl peptide - ENSP00000381185
NCBI entrez gene - 596     See in Manteia.
OMIM - 151430
RefSeq - NM_000657
RefSeq - NM_000633
RefSeq Peptide - NP_000624
RefSeq Peptide - NP_000648
swissprot - P10415
swissprot - A0A024R2C4
swissprot - A0A024R2B3
Ensembl - ENSG00000171791
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bcl2aENSDARG00000094704Danio rerio
 bcl2bENSDARG00000089109Danio rerio
 BCL2ENSGALG00000012885Gallus gallus
 Bcl2ENSMUSG00000057329Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
BCL2L1 / Q07817 / BCL2 like 1ENSG0000017155239
BCL2L2 / Q92843 / BCL2 like 2ENSG0000012947333
BAK1 / Q16611 / BCL2 antagonist/killer 1ENSG0000003011018


Protein motifs (from Interpro)
Interpro ID Name
 IPR002475  Bcl2-like
 IPR003093  Apoptosis regulator, Bcl-2 protein, BH4
 IPR004725  Apoptosis regulator, Bcl-2/ BclX
 IPR013278  Apoptosis regulator, Bcl-2
 IPR020717  Apoptosis regulator, Bcl-2, BH1 motif, conserved site
 IPR020726  Apoptosis regulator, Bcl-2, BH2 motif, conserved site
 IPR020728  Apoptosis regulator, Bcl-2, BH3 motif, conserved site
 IPR020731  Apoptosis regulator, Bcl-2, BH4 motif, conserved site
 IPR026298  Blc2 family
 IPR036834  Blc2-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000209 protein polyubiquitination IDA
 biological_processGO:0000902 cell morphogenesis IEA
 biological_processGO:0001503 ossification IEA
 biological_processGO:0001541 ovarian follicle development IEA
 biological_processGO:0001656 metanephros development IEA
 biological_processGO:0001657 ureteric bud development IEA
 biological_processGO:0001658 branching involved in ureteric bud morphogenesis IEA
 biological_processGO:0001662 behavioral fear response IEA
 biological_processGO:0001776 leukocyte homeostasis IEA
 biological_processGO:0001782 B cell homeostasis IEA
 biological_processGO:0001822 kidney development IEA
 biological_processGO:0001836 release of cytochrome c from mitochondria ISS
 biological_processGO:0001952 regulation of cell-matrix adhesion IEA
 biological_processGO:0002260 lymphocyte homeostasis IEA
 biological_processGO:0002320 lymphoid progenitor cell differentiation IEA
 biological_processGO:0002326 B cell lineage commitment IEA
 biological_processGO:0002360 T cell lineage commitment IEA
 biological_processGO:0002520 immune system development IEA
 biological_processGO:0002931 response to ischemia IEA
 biological_processGO:0003014 renal system process IEA
 biological_processGO:0006470 protein dephosphorylation IEA
 biological_processGO:0006582 melanin metabolic process IEA
 biological_processGO:0006808 regulation of nitrogen utilization IEA
 biological_processGO:0006874 cellular calcium ion homeostasis IEA
 biological_processGO:0006915 apoptotic process IDA
 biological_processGO:0006959 humoral immune response TAS
 biological_processGO:0006974 cellular response to DNA damage stimulus IMP
 biological_processGO:0006979 response to oxidative stress IEA
 biological_processGO:0007015 actin filament organization IEA
 biological_processGO:0007409 axonogenesis IEA
 biological_processGO:0007565 female pregnancy NAS
 biological_processGO:0007569 cell aging IEA
 biological_processGO:0008283 cell proliferation IEA
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0008285 negative regulation of cell proliferation IEA
 biological_processGO:0008584 male gonad development IEA
 biological_processGO:0008625 extrinsic apoptotic signaling pathway via death domain receptors IDA
 biological_processGO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage IBA
 biological_processGO:0008631 intrinsic apoptotic signaling pathway in response to oxidative stress IEA
 biological_processGO:0008637 apoptotic mitochondrial changes IEA
 biological_processGO:0009314 response to radiation NAS
 biological_processGO:0009636 response to toxic substance IDA
 biological_processGO:0009791 post-embryonic development IEA
 biological_processGO:0009887 animal organ morphogenesis IEA
 biological_processGO:0010039 response to iron ion IDA
 biological_processGO:0010224 response to UV-B IEA
 biological_processGO:0010332 response to gamma radiation IEA
 biological_processGO:0010468 regulation of gene expression IEA
 biological_processGO:0010506 regulation of autophagy IEA
 biological_processGO:0010507 negative regulation of autophagy TAS
 biological_processGO:0010523 negative regulation of calcium ion transport into cytosol IEA
 biological_processGO:0010559 regulation of glycoprotein biosynthetic process IEA
 biological_processGO:0014031 mesenchymal cell development IEA
 biological_processGO:0014042 positive regulation of neuron maturation IEA
 biological_processGO:0014911 positive regulation of smooth muscle cell migration IEA
 biological_processGO:0018105 peptidyl-serine phosphorylation IEA
 biological_processGO:0018107 peptidyl-threonine phosphorylation IEA
 biological_processGO:0019221 cytokine-mediated signaling pathway TAS
 biological_processGO:0021747 cochlear nucleus development IEA
 biological_processGO:0022612 gland morphogenesis IEA
 biological_processGO:0022898 regulation of transmembrane transporter activity IDA
 biological_processGO:0030097 hemopoiesis IEA
 biological_processGO:0030183 B cell differentiation IEA
 biological_processGO:0030217 T cell differentiation IEA
 biological_processGO:0030279 negative regulation of ossification IEA
 biological_processGO:0030307 positive regulation of cell growth IDA
 biological_processGO:0030308 negative regulation of cell growth IEA
 biological_processGO:0030318 melanocyte differentiation IEA
 biological_processGO:0030336 negative regulation of cell migration IEA
 biological_processGO:0030890 positive regulation of B cell proliferation IMP
 biological_processGO:0031069 hair follicle morphogenesis IEA
 biological_processGO:0031103 axon regeneration IEA
 biological_processGO:0031647 regulation of protein stability IEA
 biological_processGO:0032469 endoplasmic reticulum calcium ion homeostasis TAS
 biological_processGO:0032835 glomerulus development IEA
 biological_processGO:0032848 negative regulation of cellular pH reduction IDA
 biological_processGO:0032880 regulation of protein localization IEA
 biological_processGO:0033033 negative regulation of myeloid cell apoptotic process IEA
 biological_processGO:0033077 T cell differentiation in thymus IEA
 biological_processGO:0033138 positive regulation of peptidyl-serine phosphorylation IEA
 biological_processGO:0033689 negative regulation of osteoblast proliferation IEA
 biological_processGO:0034097 response to cytokine IDA
 biological_processGO:0035094 response to nicotine IDA
 biological_processGO:0035265 organ growth IEA
 biological_processGO:0040007 growth IEA
 biological_processGO:0040018 positive regulation of multicellular organism growth IEA
 biological_processGO:0042100 B cell proliferation IDA
 biological_processGO:0042149 cellular response to glucose starvation IEA
 biological_processGO:0042493 response to drug IDA
 biological_processGO:0042542 response to hydrogen peroxide IEA
 biological_processGO:0042981 regulation of apoptotic process IEA
 biological_processGO:0043029 T cell homeostasis IEA
 biological_processGO:0043066 negative regulation of apoptotic process IGI
 biological_processGO:0043067 regulation of programmed cell death IEA
 biological_processGO:0043085 positive regulation of catalytic activity IEA
 biological_processGO:0043375 CD8-positive, alpha-beta T cell lineage commitment IEA
 biological_processGO:0043473 pigmentation IEA
 biological_processGO:0043496 regulation of protein homodimerization activity IDA
 biological_processGO:0043497 regulation of protein heterodimerization activity IDA
 biological_processGO:0043524 negative regulation of neuron apoptotic process IDA
 biological_processGO:0043583 ear development IEA
 biological_processGO:0045069 regulation of viral genome replication IEA
 biological_processGO:0045636 positive regulation of melanocyte differentiation IEA
 biological_processGO:0045930 negative regulation of mitotic cell cycle IEA
 biological_processGO:0046671 negative regulation of retinal cell programmed cell death IEA
 biological_processGO:0046902 regulation of mitochondrial membrane permeability ISS
 biological_processGO:0048041 focal adhesion assembly IEA
 biological_processGO:0048066 developmental pigmentation IEA
 biological_processGO:0048070 regulation of developmental pigmentation IEA
 biological_processGO:0048087 positive regulation of developmental pigmentation IEA
 biological_processGO:0048536 spleen development IEA
 biological_processGO:0048538 thymus development IEA
 biological_processGO:0048545 response to steroid hormone IEA
 biological_processGO:0048546 digestive tract morphogenesis IEA
 biological_processGO:0048589 developmental growth IEA
 biological_processGO:0048599 oocyte development IEA
 biological_processGO:0048743 positive regulation of skeletal muscle fiber development IEA
 biological_processGO:0048753 pigment granule organization IEA
 biological_processGO:0048873 homeostasis of number of cells within a tissue IEA
 biological_processGO:0050790 regulation of catalytic activity IEA
 biological_processGO:0050853 B cell receptor signaling pathway IMP
 biological_processGO:0051384 response to glucocorticoid IEA
 biological_processGO:0051402 neuron apoptotic process TAS
 biological_processGO:0051607 defense response to virus IDA
 biological_processGO:0051726 regulation of cell cycle IEA
 biological_processGO:0051881 regulation of mitochondrial membrane potential ISS
 biological_processGO:0051902 negative regulation of mitochondrial depolarization TAS
 biological_processGO:0051924 regulation of calcium ion transport IDA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0070059 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IDA
 biological_processGO:0071310 cellular response to organic substance IEA
 biological_processGO:0071456 cellular response to hypoxia IEA
 biological_processGO:0072593 reactive oxygen species metabolic process IEA
 biological_processGO:0097192 extrinsic apoptotic signaling pathway in absence of ligand IEA
 biological_processGO:0098609 cell-cell adhesion IEA
 biological_processGO:1900740 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway TAS
 biological_processGO:2000134 negative regulation of G1/S transition of mitotic cell cycle IEA
 biological_processGO:2000378 negative regulation of reactive oxygen species metabolic process IEA
 biological_processGO:2000811 negative regulation of anoikis IMP
 biological_processGO:2001234 negative regulation of apoptotic signaling pathway IMP
 biological_processGO:2001240 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IGI
 biological_processGO:2001243 negative regulation of intrinsic apoptotic signaling pathway IDA
 biological_processGO:2001244 positive regulation of intrinsic apoptotic signaling pathway TAS
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005741 mitochondrial outer membrane TAS
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031965 nuclear membrane IEA
 cellular_componentGO:0031966 mitochondrial membrane IEA
 cellular_componentGO:0032991 protein-containing complex IMP
 cellular_componentGO:0043209 myelin sheath IEA
 cellular_componentGO:0046930 pore complex IDA
 molecular_functionGO:0002020 protease binding IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008134 transcription factor binding IEA
 molecular_functionGO:0015267 channel activity IDA
 molecular_functionGO:0016248 channel inhibitor activity IDA
 molecular_functionGO:0019903 protein phosphatase binding IEA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IPI
 molecular_functionGO:0043565 sequence-specific DNA binding IDA
 molecular_functionGO:0046982 protein heterodimerization activity IPI
 molecular_functionGO:0051434 BH3 domain binding IPI
 molecular_functionGO:0051721 protein phosphatase 2A binding IEA


Pathways (from Reactome)
Pathway description
Activation of BAD and translocation to mitochondria
BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
Interleukin-4 and Interleukin-13 signaling
The NLRP1 inflammasome
Estrogen-dependent gene expression


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0001004 Lymphedema 
Show

 HP:0001287 Meningitis 
Show

 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
Show

 HP:0001824 Weight loss 
Show

 HP:0001945 Fever 
Show

 HP:0002202 Pleural effusion "The presence of an excessive amount of fluid in the pleural cavity." [HPO:curators]
Show

 HP:0002585 Abnormality of the peritoneum 
Show

 HP:0002665 Lymphoma "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [HPO:curators]
Show

 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
Show

 HP:0030166 Night sweats "Occurence of excessive sweating during sleep." [HPO:probinson, pmid:23136329]
Show

 HP:0100721 Mediastinal lymphadenopathy 
Show

 HP:0200036 skin nodules "Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat." [HPO:SKOEHLER]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000091592 NLRP1 / Q9C000 / NLR family pyrin domain containing 1  / complex / reaction
 ENSG00000002330 BAD / Q92934 / BCL2 associated agonist of cell death  / complex / reaction
 ENSG00000153094 O43521 / BCL2L11 / BCL2 like 11  / reaction / complex
 ENSG00000105327 BBC3 / Q96PG8 / Q9BXH1 / BCL2 binding component 3  / reaction / complex
 ENSG00000015475 BID / P55957 / BH3 interacting domain death agonist  / complex / reaction
 ENSG00000104081 BMF / Q96LC9 / Bcl2 modifying factor  / complex / reaction






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr