BIRC5

Chr 17

baculoviral IAP repeat containing 5

Also known as: API4, EPR-1

NCBI Gene: 332UniProt: O15392

This gene is a member of the inhibitor of apoptosis (IAP) gene family, which encode negative regulatory proteins that prevent apoptotic cell death. IAP family members usually contain multiple baculovirus IAP repeat (BIR) domains, but this gene encodes proteins with only a single BIR domain. The encoded proteins also lack a C-terminus RING finger domain. Gene expression is high during fetal development and in most tumors, yet low in adult tissues. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

43
ClinVar variants
14
Pathogenic / LP
0.06
pLI score
8
Active trials
Clinical Summary— BIRC5
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.06) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
14 Pathogenic / Likely Pathogenic· 20 VUS of 43 total submissions
💊
Clinical Trials
8 active or recruiting trials — potential therapeutic options may be available
Some data sources returned errors (1)

ensembl: Error: Ensembl fetch failed: 500 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/BIRC5?content-type=application/json&expand=1

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.
1.04LOEUF
pLI 0.056
Z-score 1.51
OE 0.40 (0.18–1.04)
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.
0.47Z-score
OE missense 0.86 (0.71–1.04)
73 obs / 85.3 exp
Tolerant

Mild missense constraint

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.0.40 (0.18–1.04)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.86 (0.71–1.04)
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.0.94
0≤1.21.6
LoF obs/exp: 3 / 7.4Missense obs/exp: 73 / 85.3Syn Z: 0.27

ClinVar Variant Classifications

43 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic13
Likely Pathogenic1
VUS20
Likely Benign8
Benign1
13
Pathogenic
1
Likely Pathogenic
20
VUS
8
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
13
0
13
Likely Pathogenic
0
0
1
0
1
VUS
0
19
1
0
20
Likely Benign
0
4
3
1
8
Benign
0
1
0
0
1
Total02418143

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

BIRC5 · 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
📖
GeneReview available — BIRC5
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Molecular targeting therapies for neuroblastoma: Progress and challenges.
Zafar A et al.·Med Res Rev
2021Review
Deep Learning-Based Multi-Omics Integration Robustly Predicts Survival in Liver Cancer.
Chaudhary K et al.·Clin Cancer Res
2018
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Piché J et al.·Cell Cycle
2019Review
IGF2BP1 induces neuroblastoma via a druggable feedforward loop with MYCN promoting 17q oncogene expression.
Hagemann S et al.·Mol Cancer
2023
A comprehensive review and in silico analysis of the role of survivin (BIRC5) in hepatocellular carcinoma hallmarks: A step toward precision.
Mohamed NM et al.·Int J Biol Macromol
2025Review
Single-Cell Profiling of the Microenvironment in High-Risk Neuroblastoma.
Xu Y et al.·IUBMB Life
2025
The Tumor-Suppressive Human Circular RNA CircITCH Sponges miR-330-5p to Ameliorate Doxorubicin-Induced Cardiotoxicity Through Upregulating SIRT6, Survivin, and SERCA2a.
Han D et al.·Circ Res
2020
Exosomal Gene Biomarkers in Osteosarcoma: Mifepristone as a Targeted Therapeutic Revealed by Multi-Omics Analysis.
Li Z et al.·FASEB J
2025
What is the impact of BIRC5 gene polymorphisms on urinary cancer susceptibility? Evidence from 9348 subjects.
Xu M et al.·Gene
2020Meta-analysis
A novel predictive model and therapeutic potential of quercetin derivatives in chronic kidney disease progression.
Xing J et al.·Biochem Pharmacol
2025Functional
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
Acute Myeloid LeukemiaMyelodysplastic Syndrome

Administration of Donor Multi TAA-Specific T Cells for AML or MDS (ADSPAM)

ACTIVE NOT RECRUITING
NCT02494167Phase PHASE1Baylor College of MedicineStarted 2016-02
MultiTAA-specific T cells
Multiple Myeloma

Tumor-Associated Antigen-Specific Cytotoxic T-Lymphocytes for Multiple Myeloma

RECRUITING
NCT02291848Phase PHASE1Baylor College of MedicineStarted 2015-04
TAA-specific CTLsTAA-specific CTLs- fixed dose
Colorectal Cancer PreventionColorectal Adenoma

BILe Acid-gut Microbiome Axis MODification Through Diet Education for Colorectal Cancer Prevention

NOT YET RECRUITING
NCT07162337Phase NAMassachusetts General HospitalStarted 2026-03-01
Increased Plant-Based Diet and Decreased Animal-Based Diet
Hodgkin LymphomaNon-Hodgkin LymphomaHodgkin Disease

Administration of TAA-Specific CTLs; Hodgkin or Non-Hodgkin Lymphoma; TACTAL

ACTIVE NOT RECRUITING
NCT01333046Phase PHASE1Baylor College of MedicineStarted 2012-01
Antigen-Escalation StageDose-Escalation Stageazacytidine and multiTAA T cells Stage
Coronary Artery DiseaseMenopauseEndothelial Dysfunction

The Effects of Resveratrol on Sirtuins and Apoptosis Biomarkers

RECRUITING
NCT05808387Phase NAInCor Heart InstituteStarted 2023-03-06
ResveratrolPlacebo
AcromegalyGigantismFamilial Isolated Pituitary Adenoma

Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPA

RECRUITING
NCT00461188Barts & The London NHS TrustStarted 2007-03-01
Breast NeoplasmTriple Negative Breast Cancer (TNBC)HRD

PHOENIX DDR/Anti-PD-L1 Trial: A Pre-surgical Window of Opportunity and Post-surgical Adjuvant Biomarker Study of DNA Damage Response Inhibition With or Without Anti-PD-L1 Immunotherapy in Patients With Neoadjuvant Treatment Resistant Residual Triple Negative Breast Cancer

RECRUITING
NCT03740893Phase PHASE2Institute of Cancer Research, United KingdomStarted 2019-10-15
AZD6738OlaparibDurvalumab
Glioblastoma

Targeted Survivin DC Cell Injection for the Treatment of GBM

NOT YET RECRUITING
NCT06524063Phase PHASE1Beijing Tricision Biotherapeutics IncStarted 2024-08-01
Survivin-loaded dendritic cell injection

External Resources

Links to major genomics databases and tools