CD9
Chr 12CD9 molecule
Also known as: BTCC-1, DRAP-27, MIC3, MRP-1, TSPAN-29, TSPAN29
The CD9 protein is a tetraspanin family member that regulates cell adhesion, sperm-egg fusion, platelet activation, and paranodal junction formation by organizing multiprotein complexes at cell surfaces. Mutations cause autosomal recessive oocyte/sperm/zygote-associated proteins deficiency, leading to female infertility. This gene is not highly constrained against loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CD9 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Training Induced Muscle-Adipose EV Communication
NOT YET RECRUITINGChildhood B-acute Lymphoblastic Leukaemia and Role of CD9 Gene Regulation in Relapse
RECRUITINGExternal Resources
Links to major genomics databases and tools