TMEM102
Chr 17transmembrane protein 102
Also known as: CBAP, D2B
The protein regulates mitochondrial outer membrane permeabilization during apoptosis, particularly in response to cytokine deprivation, and is involved in T cell migration and cell adhesion. Mutations cause autosomal recessive intellectual disability with seizures and hypotonia. This gene shows minimal constraint against loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TMEM102 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools