BCL2L13

Chr 22

BCL2 like 13

Also known as: BCL-RAMBO, Bcl2-L-13, MIL1

NCBI Gene: 23786ENSG00000099968UniProt: Q9BXK5

This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]

169
ClinVar variants
65
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— BCL2L13
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
65 Pathogenic / Likely Pathogenic· 77 VUS of 169 total submissions

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.
0.80LOEUF
pLI 0.002
Z-score 2.15
OE 0.43 (0.24–0.80)
Tolerant

Typical tolerance to LoF variation

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.
0.30Z-score
OE missense 0.95 (0.85–1.05)
244 obs / 257.6 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.0.43 (0.24–0.80)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.95 (0.85–1.05)
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.1.12
0≤1.21.6
LoF obs/exp: 7 / 16.4Missense obs/exp: 244 / 257.6Syn Z: -1.02

ClinVar Variant Classifications

169 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic64
Likely Pathogenic1
VUS77
Likely Benign9
Benign5
64
Pathogenic
1
Likely Pathogenic
77
VUS
9
Likely Benign
5
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
64
0
64
Likely Pathogenic
0
0
1
0
1
VUS
0
73
4
0
77
Likely Benign
0
8
1
0
9
Benign
0
2
3
0
5
Total083730156

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

View in ClinVar →

Protein Context — Lollipop Plot

BCL2L13 · 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
BCL2-LIKE 13; BCL2L13
MIM #619822 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
BCL2L13 promotes mitophagy through DNM1L-mediated mitochondrial fission in glioblastoma.
Wang J et al.·Cell Death Dis
2023
MG53 deficiency mediated skeletal muscle dysfunction in chronic obstructive pulmonary disease via impairing mitochondrial fission.
Liao L et al.·Redox Biol
2025
Bcl2L13 is a ceramide synthase inhibitor in glioblastoma.
Jensen SA et al.·Proc Natl Acad Sci U S A
2014
Expression and prognostic significance of the apoptotic genes BCL2L13, Livin, and CASP8AP2 in childhood acute lymphoblastic leukemia.
Yang YL et al.·Leuk Res
2010
Clinical and molecular cytogenetic findings of cat eye syndrome and a 2-year-old patient with congenital aural atresia and hearing loss.
Xu L et al.·BMC Pediatr
2024Review
In silico prioritisation of microRNA-associated common variants in multiple sclerosis.
Fashina IA et al.·Hum Genomics
2023
PLK1 as a cooperating partner for BCL2-mediated antiapoptotic program in leukemia.
Shah K et al.·Blood Cancer J
2023
Anti-VEGF Drugs Influence Epigenetic Regulation and AMD-Specific Molecular Markers in ARPE-19 Cells.
Hamid MA et al.·Cells
2021
PGAM5 interacts with Bcl-rambo and regulates apoptosis and mitophagy.
Hashino T et al.·Exp Cell Res
2022
RNA-binding proteins potentially regulate the alternative splicing of apoptotic genes during knee osteoarthritis progression.
Zhang Z et al.·BMC Genomics
2024
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

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools