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BCL2 BCL2 apoptosis regulator [ Homo sapiens (human) ]

Gene ID: 596, updated on 2-Nov-2024

Summary

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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: mouse all
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Genomic context

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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_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ETFDH mutation involves excessive apoptosis and neurite outgrowth defect via Bcl2 pathway.
Title: ETFDH mutation involves excessive apoptosis and neurite outgrowth defect via Bcl2 pathway.
Toll-like receptor signaling in multiple myeloma cells promotes the expression of pro-survival genes B-cell lymphoma 2 and MYC and modulates the expression of B-cell maturation antigen.
Title: Toll-like receptor signaling in multiple myeloma cells promotes the expression of pro-survival genes B-cell lymphoma 2 and MYC and modulates the expression of B-cell maturation antigen.
BCL-2 and BOK regulate apoptosis by interaction of their C-terminal transmembrane domains.
Title: BCL-2 and BOK regulate apoptosis by interaction of their C-terminal transmembrane domains.
Two recurrent types of IGH::5' BCL2 breakpoints representing cytogenetic ins(14;18)(q32;q21q21) and t(14;18)(q32;q21), mediated by the VDJ and class switch recombination processes, respectively.
Title: Two recurrent types of IGH::5' BCL2 breakpoints representing cytogenetic ins(14;18)(q32;q21q21) and t(14;18)(q32;q21), mediated by the VDJ and class switch recombination processes, respectively.
miR-181d targets BCL2 to regulate HCT-8 cell apoptosis and parasite burden in response to Cryptosporidium parvum infection via the intrinsic apoptosis pathway.
Title: miR-181d targets BCL2 to regulate HCT-8 cell apoptosis and parasite burden in response to Cryptosporidium parvum infection via the intrinsic apoptosis pathway.
Bcl-2 dependent modulation of Hippo pathway in cancer cells.
Title: Bcl-2 dependent modulation of Hippo pathway in cancer cells.
Bcl-2 Up-Regulation Mediates Taxane Resistance Downstream of APC Loss.
Title: Bcl-2 Up-Regulation Mediates Taxane Resistance Downstream of APC Loss.
Combinatorial Inhibition of Complement Factor D and BCL2 for Early-Onset Colorectal Cancer.
Title: Combinatorial Inhibition of Complement Factor D and BCL2 for Early-Onset Colorectal Cancer.
HPV infection and its correlation with p53 and Bcl-2 among pregnant mothers and their infants.
Title: HPV infection and its correlation with p53 and Bcl-2 among pregnant mothers and their infants.
GPX4 inhibits apoptosis of thyroid cancer cells through regulating the FKBP8/Bcl-2 axis.
Title: GPX4 inhibits apoptosis of thyroid cancer cells through regulating the FKBP8/Bcl-2 axis.

Submit: New GeneRIF Correction See all GeneRIFs (1857)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

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

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH78390 (e-PCR)
- UniSTS:73233

GDB:214797 (e-PCR)
- UniSTS:156183

STS-AA007401 (e-PCR)
- UniSTS:6945

G10613 (e-PCR)
- UniSTS:71716

BCL2_50 (e-PCR)
- UniSTS:277028

GDB:216623 (e-PCR)
- UniSTS:156210

D18S1264 (e-PCR)
- UniSTS:8767

RH91234 (e-PCR)
- UniSTS:89171

GDB:193042 (e-PCR)
- UniSTS:155736

GDB:193086 (e-PCR)
- UniSTS:155739

GDB:193087 (e-PCR)
- UniSTS:155740

D18S379 (e-PCR)
- UniSTS:44409

PMC125347P1 (e-PCR)
- UniSTS:270490

RH119070 (e-PCR)
- UniSTS:138399

SHGC-37391 (e-PCR)
- UniSTS:19875

RH47111 (e-PCR)
- UniSTS:12986

RH68699 (e-PCR)
- UniSTS:18898

PMC137064P1 (e-PCR)
- UniSTS:270815

Bcl2 (e-PCR), detects polymorphism
- UniSTS:266976

GDB:182296 (e-PCR)
- UniSTS:155362

SHGC-77927 (e-PCR)
- UniSTS:101351

PMC16825P1 (e-PCR)
- UniSTS:271602

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables BH3 domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables channel activity	IDA Inferred from Direct Assay more info	PubMed
enables channel inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables molecular adaptor activity	EXP Inferred from Experiment more info	PubMed
enables protease binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase 2A binding	IEA Inferred from Electronic Annotation more info
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in B cell homeostasis	IEA Inferred from Electronic Annotation more info
involved_in B cell lineage commitment	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within B cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in B cell receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in CD8-positive, alpha-beta T cell lineage commitment	IEA Inferred from Electronic Annotation more info
involved_in DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in G1/S transition of mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in T cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in T cell differentiation in thymus	IEA Inferred from Electronic Annotation more info
involved_in T cell homeostasis	IEA Inferred from Electronic Annotation more info
involved_in actin filament organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in autophagy	IEA Inferred from Electronic Annotation more info
involved_in axon regeneration	IEA Inferred from Electronic Annotation more info
involved_in axonogenesis	IEA Inferred from Electronic Annotation more info
involved_in behavioral fear response	IEA Inferred from Electronic Annotation more info
involved_in branching involved in ureteric bud morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in calcium ion transport into cytosol	IEA Inferred from Electronic Annotation more info
involved_in cell-cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to glucose starvation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in cochlear nucleus development	IEA Inferred from Electronic Annotation more info
involved_in defense response to virus	IDA Inferred from Direct Assay more info	PubMed
involved_in dendritic cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in digestive tract morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in ear development	IEA Inferred from Electronic Annotation more info
involved_in endoplasmic reticulum calcium ion homeostasis	TAS Traceable Author Statement more info	PubMed
involved_in epithelial cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in extrinsic apoptotic signaling pathway in absence of ligand	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within extrinsic apoptotic signaling pathway via death domain receptors	IDA Inferred from Direct Assay more info	PubMed
involved_in female pregnancy	NAS Non-traceable Author Statement more info	PubMed
involved_in focal adhesion assembly	IEA Inferred from Electronic Annotation more info
involved_in gland morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in glomerulus development	IEA Inferred from Electronic Annotation more info
involved_in hair follicle morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in hematopoietic stem cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in homeostasis of number of cells within a tissue	IEA Inferred from Electronic Annotation more info
involved_in humoral immune response	TAS Traceable Author Statement more info	PubMed
involved_in intrinsic apoptotic signaling pathway in response to DNA damage	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IDA Inferred from Direct Assay more info	PubMed
involved_in intrinsic apoptotic signaling pathway in response to oxidative stress	IEA Inferred from Electronic Annotation more info
involved_in lymphoid progenitor cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in male gonad development	IEA Inferred from Electronic Annotation more info
involved_in melanin metabolic process	IEA Inferred from Electronic Annotation more info
involved_in melanocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in mesenchymal cell development	IEA Inferred from Electronic Annotation more info
involved_in metanephros development	IEA Inferred from Electronic Annotation more info
involved_in motor neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in myeloid cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of B cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of G1/S transition of mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of T cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of anoikis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of autophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of autophagy	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of calcium ion transport into cytosol	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell growth	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell migration	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cellular pH reduction	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of dendritic cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of epithelial cell apoptotic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of intrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of mitochondrial depolarization	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of motor neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of myeloid cell apoptotic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of neuron apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of ossification	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of osteoblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of reactive oxygen species metabolic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of retinal cell programmed cell death	IEA Inferred from Electronic Annotation more info
involved_in neuron apoptotic process	TAS Traceable Author Statement more info	PubMed
involved_in neuron maturation	IEA Inferred from Electronic Annotation more info
involved_in oocyte development	IEA Inferred from Electronic Annotation more info
involved_in organ growth	IEA Inferred from Electronic Annotation more info
involved_in ossification	IEA Inferred from Electronic Annotation more info
involved_in osteoblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in ovarian follicle development	IEA Inferred from Electronic Annotation more info
involved_in pigment granule organization	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of B cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of apoptotic process	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within positive regulation of cell growth	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of melanocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron maturation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of skeletal muscle fiber development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of smooth muscle cell migration	IEA Inferred from Electronic Annotation more info
involved_in post-embryonic development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within protein polyubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in reactive oxygen species metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of calcium ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell-matrix adhesion	IEA Inferred from Electronic Annotation more info
involved_in regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in regulation of glycoprotein biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of mitochondrial membrane permeability	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of mitochondrial membrane potential	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of nitrogen utilization	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein localization	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein stability	IEA Inferred from Electronic Annotation more info
involved_in regulation of transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of viral genome replication	IEA Inferred from Electronic Annotation more info
involved_in release of cytochrome c from mitochondria	IBA Inferred from Biological aspect of Ancestor more info
involved_in release of cytochrome c from mitochondria	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in release of cytochrome c from mitochondria	NAS Non-traceable Author Statement more info	PubMed
involved_in renal system process	IEA Inferred from Electronic Annotation more info
involved_in response to UV-B	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within response to cytokine	IDA Inferred from Direct Assay more info	PubMed
involved_in response to gamma radiation	IEA Inferred from Electronic Annotation more info
involved_in response to glucocorticoid	IEA Inferred from Electronic Annotation more info
involved_in response to hydrogen peroxide	IEA Inferred from Electronic Annotation more info
involved_in response to iron ion	IDA Inferred from Direct Assay more info	PubMed
involved_in response to ischemia	IEA Inferred from Electronic Annotation more info
involved_in response to nicotine	IDA Inferred from Direct Assay more info	PubMed
involved_in response to radiation	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within response to toxic substance	IDA Inferred from Direct Assay more info	PubMed
involved_in response to toxic substance	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within response to xenobiotic stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in response to xenobiotic stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retinal cell programmed cell death	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle fiber development	IEA Inferred from Electronic Annotation more info
involved_in smooth muscle cell migration	IEA Inferred from Electronic Annotation more info
involved_in spleen development	IEA Inferred from Electronic Annotation more info
involved_in stem cell development	IEA Inferred from Electronic Annotation more info
involved_in thymus development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of BAD-BCL-2 complex	IPI Inferred from Physical Interaction more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitochondrial outer membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in mitochondrial outer membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial outer membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial outer membrane	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in myelin sheath	IEA Inferred from Electronic Annotation more info
located_in nuclear membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of pore complex	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: apoptosis regulator Bcl-2

Names: B-cell CLL/lymphoma 2; protein phosphatase 1, regulatory subunit 50

NCBI Reference Sequences (RefSeq)

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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

NG_009361.1 RefSeqGene

Range

4612..201035

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1113

mRNA and Protein(s)

NM_000633.3 → NP_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:1 → 239

bcl-2; apoptosis regulator
NM_000657.3 → NP_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:1 → 195

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

NC_000018.10 Reference GRCh38.p14 Primary Assembly

Range

63123346..63320090 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

C9JHD5, P10415, P10416, Q13842, Q16197

Related

ENSP00000381185.1, ENST00000398117.1
XM_047437734.1 → XP_047293690.1 apoptosis regulator Bcl-2 isoform X3

UniProtKB/TrEMBL

A0A7I2V3S7

Related

ENSP00000503628.1, ENST00000678134.1
XM_017025917.3 → XP_016881406.1 apoptosis regulator Bcl-2 isoform X3

UniProtKB/TrEMBL

A0A1L4AQQ4, A0A7I2V3S7
XM_011526135.4 → XP_011524437.1 apoptosis regulator Bcl-2 isoform X2

UniProtKB/TrEMBL

A0A1L4AQQ4

Conserved Domains (3) summary

smart00265
Location:7 → 33

BH4; BH4 Bcl-2 homology region 4

cd06845
Location:86 → 201

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:1 → 203

bcl-2; apoptosis regulator

Alternate T2T-CHM13v2.0

Genomic

NC_060942.1 Alternate T2T-CHM13v2.0

Range

63326497..63525122 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A7I2V3S7
XM_054318966.1 → XP_054174941.1 apoptosis regulator Bcl-2 isoform X2