ODF2
Chr 9outer dense fiber of sperm tails 2
Also known as: CT134, ODF2/1, ODF2/2, ODF84
ODF2 encodes a major component of sperm tail outer dense fibers that maintains elastic structure and motility, and also functions as a scaffold protein at mother centrioles required for centrosome formation and microtubule organizing centers. Mutations cause primary male infertility with abnormal sperm morphology, following an autosomal recessive inheritance pattern. The gene is highly constrained against loss-of-function variants (LOEUF 0.464), suggesting that biallelic mutations are required for disease manifestation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is dominant-negative.
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
ODF2 · 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 →External Resources
Links to major genomics databases and tools