TMBIM6

Chr 12

transmembrane BAX inhibitor motif containing 6

Also known as: BAXI1, BI-1, TEGT

Enables endoribonuclease inhibitor activity and ubiquitin protein ligase binding activity. Involved in several processes, including negative regulation of RNA splicing; negative regulation of intracellular signal transduction; and response to L-glutamate. Acts upstream of or within negative regulation of calcium ion transport into cytosol. Located in endoplasmic reticulum membrane. Biomarker of cervical squamous cell carcinoma and prostate carcinoma. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
25
Pubs (1 yr)
P/LP submissions
P/LP missense
0.70
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?
0.70LOEUF
pLI 0.015
Z-score 2.45
OE 0.36 (0.190.70)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.59Z-score
OE missense 0.87 (0.761.00)
143 obs / 164.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.36 (0.190.70)
00.351.4
Missense OE?0.87 (0.761.00)
00.61.4
Synonymous OE?0.97
01.21.6
LoF obs/exp: 6 / 16.8Missense obs/exp: 143 / 164.4Syn Z: 0.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TMBIM6 · 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.

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