BAG1

Chr 9

BAG cochaperone 1

Also known as: BAG-1, HAP, RAP46

NCBI Gene: 573ENSG00000107262UniProt: Q99933

The oncogene BCL2 is a membrane protein that blocks a step in a pathway leading to apoptosis or programmed cell death. The protein encoded by this gene binds to BCL2 and is referred to as BCL2-associated athanogene. It enhances the anti-apoptotic effects of BCL2 and represents a link between growth factor receptors and anti-apoptotic mechanisms. Multiple protein isoforms are encoded by this mRNA through the use of a non-AUG (CUG) initiation codon, and three alternative downstream AUG initiation codons. A related pseudogene has been defined on chromosome X. [provided by RefSeq, Feb 2010]

139
ClinVar variants
37
Pathogenic / LP
0.00
pLI score
4
Active trials
Clinical Summary— BAG1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
37 Pathogenic / Likely Pathogenic· 1 VUS of 139 total submissions
💊
Clinical Trials
4 active or recruiting trials — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.16LOEUF
pLI 0.000
Z-score 1.11
OE 0.69 (0.42–1.16)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.52Z-score
OE missense 1.11 (0.99–1.25)
198 obs / 178.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.69 (0.42–1.16)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.11 (0.99–1.25)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.01
0≤1.21.6
LoF obs/exp: 10 / 14.6Missense obs/exp: 198 / 178.4Syn Z: -0.04

ClinVar Variant Classifications

139 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic36
Likely Pathogenic1
VUS1
Benign1
36
Pathogenic
1
Likely Pathogenic
1
VUS
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————36
Likely Pathogenic
————1
VUS
————1
Likely Benign
————0
Benign
————1
Total—39

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

BAG1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
BAG COCHAPERONE 1; BAG1
MIM #601497 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Comparative analysis of BAG1 and BAG2: Insights into their structures, functions and implications in disease pathogenesis.
Hou M et al.·Int Immunopharmacol
2024Review
BAG-1 in carcinogenesis.
Sharp A et al.·Expert Rev Mol Med
2004Review
The obese inflammatory microenvironment may promote breast DCIS progression.
Habanjar O et al.·Front Immunol
2024
BAG-1, an anti-apoptotic tumour marker.
Tang SC·IUBMB Life
2002Review
Application of Toxoplasma gondii-specific SAG1, GRA7 and BAG1 proteins in serodiagnosis of animal toxoplasmosis.
Qi T et al.·Front Cell Infect Microbiol
2022
BAG-1 as a biomarker in early breast cancer prognosis: a systematic review with meta-analyses.
Papadakis ES et al.·Br J Cancer
2017Meta-analysis
Integrated case-control and somatic-germline interaction analyses of soft-tissue sarcoma.
Hu F et al.·J Med Genet
2021
Expression of BAG1 is associated with prognosis in kidney renal clear cell carcinoma based on bioinformatics.
Wu H et al.·BMC Cancer
2021
Development and Validation of a New BAG-1L-Specific Antibody to Quantify BAG-1L Protein Expression in Advanced Prostate Cancer.
Neeb A et al.·Lab Invest
2023
BAG-1 expression and function in human cancer.
Cutress RI et al.·Br J Cancer
2002Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Healthy Participants

Reality-monitoring & Stress

RECRUITING
NCT05595434Phase NAHôpital le VinatierStarted 2024-04-25
Acute Maastricht Stress Test (MAST), active condition.Acute Maastricht Stress Test (MAST), placebo condition
Dilated Cardiomyopathy (DCM)BAG3 Mutation Associated Dilated Cardiomyopathy

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

NOT YET RECRUITING
NCT07426419Phase PHASE1, PHASE2Affinia TherapeuticsStarted 2026-03
AFTX-201
Dilated Cardiomyopathy (DCM)

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

NOT YET 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)
Healthy

Effect of Transcranial Alternative Current Stimulation at Alpha Frequency (α-tACS) on Stressed Healthy Subjects

RECRUITING
NCT06229002Phase NAHôpital le VinatierStarted 2024-01-24
Transcranial alternative current stimulation (tACS) at alpha frequencySham stimulation

External Resources

Links to major genomics databases and tools