SUN5 Chromosome 20
Sad1 and UNC84 domain containing 5
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What This Gene Does
The protein encoded by this gene appears to play a role in the meiotic stage of spermatogenesis. The encoded protein localizes to the junction between the sperm head and body and may be involved in nuclear envelope reconstitution and nuclear migration. Mutations in this gene have been implicated in acephalic spermatozoa syndrome. [provided by RefSeq, May 2017]
Gene Info
Gene Group
SUN family
Locus Type
gene with protein product
Location
20q11.21
Ensembl
ENSG00000167098
Associated Conditions (1)
Spermatogenic failure 16
Key Variants
RS754130052
Likely pathogenic
Spermatogenic failure 16, Spermatogenic failure 16
Health Risk
RS756459525
Pathogenic
Spermatogenic failure 16, Spermatogenic failure 16
Health Risk
RS886041023
Pathogenic
Spermatogenic failure 16, Spermatogenic failure 16
Health Risk
RS886041024
Pathogenic
Spermatogenic failure 16, Spermatogenic failure 16
Health Risk
RS886041025
Pathogenic
Spermatogenic failure 16, Spermatogenic failure 16
Health Risk
RS781693813
Pathogenic/Likely pathogenic
Spermatogenic failure 16, Spermatogenic failure 16
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS754130052 | Health Risk | Likely pathogenic | Spermatogenic failure 16, Spermatogenic failure 16 |
| RS756459525 | Health Risk | Pathogenic | Spermatogenic failure 16, Spermatogenic failure 16 |
| RS886041023 | Health Risk | Pathogenic | Spermatogenic failure 16, Spermatogenic failure 16 |
| RS886041024 | Health Risk | Pathogenic | Spermatogenic failure 16, Spermatogenic failure 16 |
| RS886041025 | Health Risk | Pathogenic | Spermatogenic failure 16, Spermatogenic failure 16 |
| RS781693813 | Health Risk | Pathogenic/Likely pathogenic | Spermatogenic failure 16, Spermatogenic failure 16 |