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BCL2 BCL2 apoptosis regulator [ Homo sapiens (human) ]

Gene ID: 596, updated on 5-Jan-2025

Summary

Official Symbol
BCL2provided by HGNC
Official Full Name
BCL2 apoptosis regulatorprovided by HGNC
Primary source
HGNC:HGNC:990
See related
Ensembl:ENSG00000171791 MIM:151430; AllianceGenome:HGNC:990
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Bcl-2; PPP1R50
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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Expression
Broad expression in thyroid (RPKM 21.9), spleen (RPKM 9.1) and 20 other tissues See more
Orthologs
NEW
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Try the new Transcript table

Genomic context

See BCL2 in Genome Data Viewer
Location:
18q21.33
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (63123346..63320090, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (63326497..63525122, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (60790579..60987002, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372160 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:60427134-60428104 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:60428105-60429074 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13437 Neighboring gene PH domain and leucine rich repeat protein phosphatase 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:60539365-60539866 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:60544855-60545355 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:60546255-60546756 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:60546757-60547256 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_49136 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9521 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr18:60565763-60566264 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:60573152-60573764 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:60573765-60574376 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:60609220-60610419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13438 Neighboring gene Sharpr-MPRA regulatory region 4133 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13439 Neighboring gene uncharacterized LOC105372161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13441 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13442 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13445 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13446 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:60805026-60805892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13448 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13449 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:60813609-60814109 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:60813108-60813608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13450 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13451 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13453 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13455 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13457 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13458 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13461 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13462 Neighboring gene uncharacterized LOC124904379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13463 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:60881329-60881829 Neighboring gene Sharpr-MPRA regulatory region 13227 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13466 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9522 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9523 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9524 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13467 Neighboring gene uncharacterized LOC124904317 Neighboring gene Sharpr-MPRA regulatory region 13815 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:61033863-61034810 Neighboring gene 3-ketodihydrosphingosine reductase Neighboring gene KDSR divergent transcript

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.
EBI GWAS Catalog
Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.
EBI GWAS Catalog
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
EBI GWAS Catalog

HIV-1 interactions

Protein interactions

Items 1 - 20 of 24
Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Treatment of monocyte-derived dendritic cells with HIV-1 gp120 downregulates the expression of the anti-apoptotic molecules BCL-2 and BCL-xL PubMed
env Binding of HIV-1 gp120 to CD4 downregulates Bcl-2 protein in CD4+ T lymphocytes and facilitates Fas/Fas-ligand triggered apoptosis; addition of IL-2 rescues CD4+ T cells from CD4/gp120-induced Bcl-2 down modulation and apoptosis induction PubMed
env Binding of HIV-1 envelope protein gp120 to CD4 downregulates Bcl-2 expression; this effect is inhibited by gp17/GCDFP-15, which blocks the ability of CD4 to interact with gp120, leading to moderate up-regulation of Bcl-2 PubMed
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160-induced apoptosis is affected in part by the release of TNF-alpha and is associated with attenuated Bcl-2 mRNA expression PubMed
Nef nef Recombinant HIV-1 Nef upregulates expression of antiapoptotic proteins BCL2, AKT1, and XIAP in THP-1 cells and primary blood macrophages PubMed
nef HIV-1 Nef enhances apoptosis in CD4+ human lymphoblastoid cell lines through mechanisms that include the downregulation of the anti-apoptotic proteins Bcl-2 and Bcl-XL PubMed
Tat tat HIV-1 Tat induces apoptosis of human blood-retinal barrier-associated cells by downregulation of BCL2 and upregulation of BAK, BAX, and cytochrome c in a dose-dependent manner PubMed
tat HIV-1 clade B and C Tat downregulate the expression of BCL2 in primary glia PubMed
tat HIV-1 Tat inhibits IL7-induced upregulation of BCL-2 in CD4 T-cells PubMed
tat HIV-1 Tat upregulates Bcl-2 expression in a variety of cell types (PBMC, MDM, Jurkat, HeLa, etc.), an effect that is linked to the ability of Tat to inhibit apoptosis PubMed
tat HIV-1 Tat modulates BCL2 expression in neuron cells PubMed
tat FasL-induced cleavage of BID/p22 and BCL-2 proteins is inhibited in HIV-1 Tat101-expressing Jurkat cells PubMed
tat PDGF-BB protects neurons against HIV-1 Tat and morphine-induced apoptosis by promoting Bcl2 and inhibiting Bax expression PubMed
tat HIV-1 Tat-induced apoptosis through increased expression of anti-apoptotic protein Bcl-2, proapoptotic protein Bax and activation of caspases CASP3 and CASP9 is inhibited by estrogen receptor beta (ER)-mediated estrogen treatment PubMed
tat Expression of HIV-1 Tat in hematopoietic cells results in downregulation of Bcl-2 and induction of apoptosis PubMed
tat Tat-expressing EBV-positive B cells show downregulation of Bcl-2, and in serum starvation conditions display the Retinoblastoma (Rb) hyper-phosphorylated form, progress throughout the cell cycle, and retain the ability to grow in small clumps PubMed
tat A fusion protein between HIV-1 Tat and a Bcl-2 construct with the loop domain deleted (TAT-Bcl-2Deltaloop) binds to neural cell and rat brain mitochondria to increase the survival of cortical neurons PubMed
tat Tumor protein p73 interferes with Tat-mediated apoptosis by preventing the up-regulation of Bax and down-regulation of Bcl-2 proteins in astrocytes PubMed
Vpr vpr Treatment of human PBMCs with HIV-1 Vpr peptide (amino acids 52-96) significantly downregulates expression of Bcl-2 PubMed
vpr Constitutive expression of HIV-1 Vpr in Jurkat cells or transgenic mice resulted in upregulation of Bcl-2, providing evidence for the role of Vpr in the regulation of apoptosis during HIV-1 replication PubMed
vpr Bcl-2 inhibits or reduces HIV-1 Vpr mediated cytotoxicity, induction of mitochondrial membrane permeabilization and apoptosis PubMed
retropepsin gag-pol Protein/protein interactions of virus/autophagy-associated proteins by yeast two-hybrid array reveals the interaction between HIV-1 PR and BCL2 PubMed
gag-pol Purified bcl-2 is cleaved by HIV-1 protease between phenylalanine 112 and alanine 113 PubMed
gag-pol HIV-1 protease depletes infected cells of bcl-2, leading to oxidative stress-dependent activation of NF kappa B, a cellular factor required for HIV transcription, and ultimately to cell death PubMed
Items 1 - 20 of 24

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables BH3 domain binding PubMed 
enables DNA-binding transcription factor binding PubMed 
enables channel activity  
enables channel activity PubMed 
enables channel inhibitor activity PubMed 
enables identical protein binding PubMed 
enables molecular adaptor activity PubMed 
enables protease binding PubMed 
enables protein binding PubMed 
enables protein heterodimerization activity PubMed 
enables protein phosphatase 2A binding  
enables sequence-specific DNA binding PubMed 
enables ubiquitin protein ligase binding PubMed 
Items 1 - 25 of 135
Process Evidence Code Pubs
involved_in B cell apoptotic process  
involved_in B cell homeostasis  
involved_in B cell lineage commitment  
acts_upstream_of_or_within B cell proliferation PubMed 
involved_in B cell receptor signaling pathway PubMed 
involved_in CD8-positive, alpha-beta T cell lineage commitment  
involved_in DNA damage response PubMed 
involved_in G1/S transition of mitotic cell cycle  
involved_in T cell apoptotic process  
involved_in T cell differentiation in thymus  
involved_in T cell homeostasis  
involved_in actin filament organization  
acts_upstream_of_or_within apoptotic process PubMed 
involved_in autophagy  
involved_in axon regeneration  
involved_in axonogenesis  
involved_in behavioral fear response  
involved_in branching involved in ureteric bud morphogenesis  
involved_in calcium ion transport into cytosol  
involved_in cell-cell adhesion  
involved_in cellular response to glucose starvation  
involved_in cellular response to hypoxia  
involved_in cochlear nucleus development  
involved_in defense response to virus PubMed 
involved_in dendritic cell apoptotic process  
involved_in digestive tract morphogenesis  
involved_in ear development  
involved_in endoplasmic reticulum calcium ion homeostasis PubMed 
involved_in epithelial cell apoptotic process  
involved_in establishment of localization in cell  
involved_in extrinsic apoptotic signaling pathway in absence of ligand  
acts_upstream_of_or_within extrinsic apoptotic signaling pathway via death domain receptors PubMed 
involved_in female pregnancy PubMed 
involved_in focal adhesion assembly  
involved_in gland morphogenesis  
involved_in glomerulus development  
involved_in hair follicle morphogenesis  
involved_in hematopoietic stem cell differentiation  
involved_in homeostasis of number of cells within a tissue  
involved_in humoral immune response PubMed 
involved_in intrinsic apoptotic signaling pathway in response to DNA damage  
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress PubMed 
involved_in intrinsic apoptotic signaling pathway in response to oxidative stress  
involved_in lymphoid progenitor cell differentiation  
involved_in male gonad development  
involved_in melanin metabolic process  
involved_in melanocyte differentiation  
involved_in mesenchymal cell development  
involved_in metanephros development  
involved_in motor neuron apoptotic process  
involved_in myeloid cell apoptotic process  
involved_in negative regulation of B cell apoptotic process  
involved_in negative regulation of G1/S transition of mitotic cell cycle  
involved_in negative regulation of T cell apoptotic process  
involved_in negative regulation of anoikis PubMed 
acts_upstream_of_or_within negative regulation of apoptotic process PubMed 
involved_in negative regulation of apoptotic process PubMed 
involved_in negative regulation of apoptotic process PubMed 
acts_upstream_of_or_within negative regulation of apoptotic process PubMed 
involved_in negative regulation of apoptotic process PubMed 
involved_in negative regulation of apoptotic signaling pathway PubMed 
involved_in negative regulation of autophagy PubMed 
involved_in negative regulation of autophagy PubMed 
involved_in negative regulation of calcium ion transport into cytosol  
involved_in negative regulation of cell growth  
involved_in negative regulation of cell migration  
involved_in negative regulation of cellular pH reduction PubMed 
involved_in negative regulation of dendritic cell apoptotic process  
involved_in negative regulation of epithelial cell apoptotic process  
acts_upstream_of_or_within negative regulation of extrinsic apoptotic signaling pathway in absence of ligand PubMed 
involved_in negative regulation of intrinsic apoptotic signaling pathway PubMed 
involved_in negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator PubMed 
involved_in negative regulation of mitochondrial depolarization PubMed 
involved_in negative regulation of motor neuron apoptotic process  
involved_in negative regulation of myeloid cell apoptotic process  
acts_upstream_of_or_within negative regulation of neuron apoptotic process PubMed 
involved_in negative regulation of ossification  
involved_in negative regulation of osteoblast proliferation  
involved_in negative regulation of reactive oxygen species metabolic process  
involved_in negative regulation of retinal cell programmed cell death  
involved_in neuron apoptotic process PubMed 
involved_in neuron maturation  
involved_in oocyte development  
involved_in organ growth  
involved_in ossification  
involved_in osteoblast proliferation  
involved_in ovarian follicle development  
involved_in pigment granule organization  
involved_in positive regulation of B cell proliferation PubMed 
involved_in positive regulation of apoptotic process  
involved_in positive regulation of apoptotic process PubMed 
acts_upstream_of_or_within positive regulation of cell growth PubMed 
involved_in positive regulation of cell population proliferation PubMed 
involved_in positive regulation of melanocyte differentiation  
involved_in positive regulation of multicellular organism growth  
involved_in positive regulation of neuron maturation  
involved_in positive regulation of skeletal muscle fiber development  
involved_in positive regulation of smooth muscle cell migration  
involved_in post-embryonic development  
acts_upstream_of_or_within protein polyubiquitination PubMed 
involved_in reactive oxygen species metabolic process  
acts_upstream_of_or_within regulation of calcium ion transport PubMed 
involved_in regulation of cell-matrix adhesion  
involved_in regulation of gene expression  
involved_in regulation of glycoprotein biosynthetic process  
involved_in regulation of mitochondrial membrane permeability PubMed 
involved_in regulation of mitochondrial membrane potential PubMed 
involved_in regulation of nitrogen utilization  
involved_in regulation of protein localization  
involved_in regulation of protein stability  
involved_in regulation of transmembrane transporter activity PubMed 
involved_in regulation of viral genome replication  
involved_in release of cytochrome c from mitochondria  
involved_in release of cytochrome c from mitochondria PubMed 
involved_in release of cytochrome c from mitochondria PubMed 
involved_in renal system process  
involved_in response to UV-B  
acts_upstream_of_or_within response to cytokine PubMed 
involved_in response to gamma radiation  
involved_in response to glucocorticoid  
involved_in response to hydrogen peroxide  
involved_in response to iron ion PubMed 
involved_in response to ischemia  
involved_in response to nicotine PubMed 
involved_in response to radiation PubMed 
acts_upstream_of_or_within response to toxic substance PubMed 
involved_in response to toxic substance PubMed 
acts_upstream_of_or_within response to xenobiotic stimulus PubMed 
involved_in response to xenobiotic stimulus PubMed 
involved_in retinal cell programmed cell death  
involved_in skeletal muscle fiber development  
involved_in smooth muscle cell migration  
involved_in spleen development  
involved_in stem cell development  
involved_in thymus development  
Items 1 - 25 of 135
Component Evidence Code Pubs
part_of BAD-BCL-2 complex PubMed 
located_in cytoplasm PubMed 
located_in cytosol  
located_in endoplasmic reticulum PubMed 
is_active_in endoplasmic reticulum membrane PubMed 
located_in membrane PubMed 
is_active_in mitochondrial outer membrane  
is_active_in mitochondrial outer membrane PubMed 
located_in mitochondrial outer membrane PubMed 
located_in mitochondrial outer membrane  
located_in mitochondrion PubMed 
located_in mitochondrion PubMed 
located_in myelin sheath  
located_in nuclear membrane PubMed 
located_in nucleus PubMed 
part_of pore complex PubMed 
part_of protein-containing complex PubMed 

General protein information

Preferred Names
apoptosis regulator Bcl-2
Names
B-cell CLL/lymphoma 2
protein phosphatase 1, regulatory subunit 50

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009361.1 RefSeqGene

    Range
    4612..201035
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1113

mRNA and Protein(s)

  1. NM_000633.3NP_000624.2  apoptosis regulator Bcl-2 isoform alpha

    See identical proteins and their annotated locations for NP_000624.2

    Status: REVIEWED

    Source sequence(s)
    AC021803, AC022726
    Consensus CDS
    CCDS11981.1
    UniProtKB/Swiss-Prot
    C9JHD5, P10415, P10416, Q13842, Q16197
    UniProtKB/TrEMBL
    A9QXG9
    Related
    ENSP00000329623.3, ENST00000333681.5
    Conserved Domains (1) summary
    TIGR00865
    Location:1239
    bcl-2; apoptosis regulator
  2. NM_000657.3NP_000648.2  apoptosis regulator Bcl-2 isoform beta

    See identical proteins and their annotated locations for NP_000648.2

    Status: REVIEWED

    Source sequence(s)
    AC021803
    Consensus CDS
    CCDS45882.1
    UniProtKB/TrEMBL
    A0A1L4AQQ4
    Related
    ENSP00000466417.1, ENST00000589955.2
    Conserved Domains (1) summary
    TIGR00865
    Location:1195
    bcl-2; apoptosis regulator

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    63123346..63320090 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047437733.1XP_047293689.1  apoptosis regulator Bcl-2 isoform X1

    UniProtKB/Swiss-Prot
    C9JHD5, P10415, P10416, Q13842, Q16197
    UniProtKB/TrEMBL
    A9QXG9
    Related
    ENSP00000381185.1, ENST00000398117.1
  2. XM_047437734.1XP_047293690.1  apoptosis regulator Bcl-2 isoform X3

    UniProtKB/TrEMBL
    A0A1L4AQQ4, A0A7I2V3S7
    Related
    ENSP00000503628.1, ENST00000678134.1
  3. XM_017025917.3XP_016881406.1  apoptosis regulator Bcl-2 isoform X3

    UniProtKB/TrEMBL
    A0A1L4AQQ4, A0A7I2V3S7
  4. XM_011526135.4XP_011524437.1  apoptosis regulator Bcl-2 isoform X2

    UniProtKB/TrEMBL
    A0A1L4AQQ4
    Conserved Domains (3) summary
    smart00265
    Location:733
    BH4; BH4 Bcl-2 homology region 4
    cd06845
    Location:86201
    Bcl-2_like; Apoptosis regulator proteins of the Bcl-2 family, named after B-cell lymphoma 2. This alignment model spans what have been described as Bcl-2 homology regions BH1, BH2, BH3, and BH4. Many members of this family have an additional C-terminal transmembrane ...
    TIGR00865
    Location:1203
    bcl-2; apoptosis regulator

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    63326497..63525122 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054318967.1XP_054174942.1  apoptosis regulator Bcl-2 isoform X3

    UniProtKB/TrEMBL
    A0A1L4AQQ4, A0A7I2V3S7
  2. XM_054318966.1XP_054174941.1  apoptosis regulator Bcl-2 isoform X2

    UniProtKB/TrEMBL
    A0A1L4AQQ4

RNA

  1. XR_008485021.1 RNA Sequence

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