BAK1

Chr 6

BCL2 antagonist/killer 1

Also known as: BAK, BAK-LIKE, BCL2L7, CDN1

The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form oligomers or heterodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein localizes to mitochondria, and functions to induce apoptosis. It interacts with and accelerates the opening of the mitochondrial voltage-dependent anion channel, which leads to a loss in membrane potential and the release of cytochrome c. This protein also interacts with the tumor suppressor P53 after exposure to cell stress. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
151
Pubs (1 yr)
P/LP submissions
P/LP missense
1.37
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.37LOEUF
pLI 0.000
Z-score 0.67
OE 0.79 (0.471.37)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.99Z-score
OE missense 0.76 (0.650.90)
102 obs / 134.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.79 (0.471.37)
00.351.4
Missense OE?0.76 (0.650.90)
00.61.4
Synonymous OE?0.85
01.21.6
LoF obs/exp: 9 / 11.4Missense obs/exp: 102 / 134.3Syn Z: 0.88

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

BAK1 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →