BCL2

Chr 18

BCL2 apoptosis regulator

Also known as: Bcl-2, PPP1R50

NCBI Gene: 596ENSG00000171791UniProt: P10415

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]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
12
Active trials
2816
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.71
LOEUF
GOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.71LOEUF
pLI 0.559
Z-score 2.03
OE 0.15 (0.05–0.71)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint?
1.40Z-score
OE missense 0.67 (0.56–0.79)
94 obs / 140.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.15 (0.05–0.71)
0≤0.351.4
Missense OE?0.67 (0.56–0.79)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 1 / 6.7Missense obs/exp: 94 / 140.6Syn Z: -0.28

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BCL2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
CML,Blast Phase

Olverembatinib Combined With Venetoclax and Azacitidine in Blast Phase Ph Chromosome-positive CML

RECRUITING
NCT06757855Phase PHASE1, PHASE2Institute of Hematology & Blood Diseases Hospital, ChinaStarted 2025-01-26
OlverembatinibVenetoclaxAzacitidine
Acute Myeloid LeukemiaNPM1 MutationIDH1 Mutation

Study on the Efficacy and Safety of VA Regimen Compared to "3+7" Regimen in Newly Diagnosed AML With NPM1 or IDH1/IDH2 Mutations

NOT YET RECRUITING
NCT07664839Phase PHASE2Shen yangStarted 2026-07-01
VEN combined with azacitidineCytarabine plus Daunorubicin
Dilated Cardiomyopathy (DCM)

A Phase 1 AAV Gene Therapy Trial Evaluating Safety and Preliminary Efficacy of RP-A701 in Subjects With BAG3 Dilated Cardiomyopathy

RECRUITING
NCT07137338Phase PHASE1Rocket Pharmaceuticals Inc.Started 2026-06
RP-A701 is a recombinant viral vector composed of an AAV serotype rh.74 (AAVrh.74) capsid encapsulating the transgene, BCL2-associated Athanogene 3 (BAG3)
B-cell Non-Hodgkin's Lymphoma

A Phase 1/2 Study of CT120 in Patient With Relapsed/Refractory B-cell Non-Hodgkin's Lymphoma

NOT YET RECRUITING
NCT05091541Phase PHASE1, PHASE2Nanjing IASO Biotechnology Co., Ltd.Started 2021-10-20
Fully Human Anti-CD19/CD22 Dual Target Chimeric Antigen Receptor Autologous T Cell Injection
Diffuse Large B-Cell LymphomaDiffuse Large B-Cell Lymphoma, Not Otherwise SpecifiedDouble-Expressor Lymphoma

Testing the Addition of a New Anti-cancer Drug, Venetoclax, to Usual Chemotherapy for High Grade B-cell Lymphomas

ACTIVE NOT RECRUITING
NCT03984448Phase PHASE2, PHASE3National Cancer Institute (NCI)Started 2019-10-22
Biospecimen CollectionBone Marrow BiopsyComputed Tomography
Type1diabetes

Crosstalk Between Mucosal-Associated Invariant T (MAIT) Cells and the Gut Microbiota and Mucosa in the Development of Type 1 Diabetes in Children

RECRUITING
NCT05054361Institut National de la Santé Et de la Recherche Médicale, FranceStarted 2022-01-01
MAIT cells analysisMAIT cytokines production analysisLactulose/Mannitol Test
Dilated Cardiomyopathy (DCM)BAG3 Mutation Associated Dilated Cardiomyopathy

An AAV Gene Therapy Trial of AFTX-201 in Adults With BAG3-Associated Dilated Cardiomyopathy (DCM)

RECRUITING
NCT07426419Phase PHASE1, PHASE2Affinia TherapeuticsStarted 2026-09
AFTX-201
Menin InhibitorsAcute LeukemiaPost Hematopoietic Stem Cell Transplantation

A Real-world Study on the Efficacy and Safety of Menin Inhibitors as Maintenance After Allo-HSCT

RECRUITING
NCT07559695The First Affiliated Hospital of Soochow UniversityStarted 2025-11-01
High Grade Serous CarcinomaTriple Negative Breast CancerOvarian Cancer

Combination of Olaparib and Navitoclax in Women with HGSC and TNBC

ACTIVE NOT RECRUITING
NCT05358639Phase PHASE1Sunnybrook Health Sciences CentreStarted 2022-11-09
Olaparib tabletNavitoclax
Acute Myeloid Leukemia

Comparing New Treatments for People With Newly Diagnosed Acute Myeloid Leukemia That Has an IDH2 Gene Change (A MyeloMATCH Treatment Trial)

RECRUITING
NCT06672146Phase PHASE2National Cancer Institute (NCI)Started 2025-05-16
Biospecimen CollectionBone Marrow AspirationBone Marrow Biopsy
Rheumatoid ArthritisOsteoarthritisSarcopenia

Effect of Exercise Type on Muscle Quality in Patients With OA, SARC and RA: an Explorative Study

NOT YET RECRUITING
NCT06480643Phase NAAmsterdam UMC, location VUmcStarted 2024-12-01
High load exercise typeLow load exercise type
Diffuse Large B-cell-lymphoma

Venetoclax Plus R-ICE Chemotherapy for Relapsed/Refractory Diffuse Large B-Cell Lymphoma

ACTIVE NOT RECRUITING
NCT03064867Phase PHASE1, PHASE2Molly GalloglyStarted 2017-06-26
VenetoclaxRituximabIfosfamide

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients