BCL2L13

Chr 22

BCL2 like 13

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

NCBI Gene: 23786ENSG00000099968UniProt: Q9BXK5OMIM: 619822

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]

OMIMResearchGenerating clinical summary…
0
Active trials
18
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.80
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.80LOEUF
pLI 0.002
Z-score 2.15
OE 0.43 (0.24–0.80)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.30Z-score
OE missense 0.95 (0.85–1.05)
244 obs / 257.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.43 (0.24–0.80)
0≤0.351.4
Missense OE?0.95 (0.85–1.05)
0≤0.61.4
Synonymous OE?1.12
0≤1.21.6
LoF obs/exp: 7 / 16.4Missense obs/exp: 244 / 257.6Syn Z: -1.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

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

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