SUN5
Chr 20ARSad1 and UNC84 domain containing 5
Also known as: SPAG4L, SPGF16, TSARG4, dJ726C3.1
SUN5 encodes a protein that anchors the sperm head to the tail by attaching the coupling apparatus to the sperm nuclear envelope during spermatogenesis. Mutations cause autosomal recessive spermatogenic failure, specifically acephalic spermatozoa syndrome where sperm heads detach from tails. This gene is not highly constrained in the general population and primarily affects male fertility rather than causing neurological disease.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
90 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 3 | 16 | 0 | 19 |
Likely Pathogenic | 1 | 1 | 5 | 0 | 7 |
VUS | 0 | 53 | 3 | 1 | 57 |
Likely Benign | 0 | 1 | 1 | 1 | 3 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 1 | 58 | 26 | 2 | 87 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SUN5 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools