SPEF2 Chromosome 5
Sperm flagellar and cilia associated 2
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What This Gene Does
Involved in sperm axoneme assembly. Located in cytosol; nuclear body; and sperm flagellum. Implicated in spermatogenic failure 43. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (4)
Inborn genetic diseases
SPEF2-related disorder
Spermatogenic failure 43
Primary ciliary dyskinesia
Key Variants
RS138022749
Conflicting classifications of pathogenicity
Health Risk
RS139580877
Conflicting classifications of pathogenicity
Health Risk
RS201712580
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS202045210
Conflicting classifications of pathogenicity
Inborn genetic diseases, SPEF2-related disorder, Inborn genetic diseases
Health Risk
RS371139224
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1239348737
Likely pathogenic
SPEF2-related disorder, SPEF2-related disorder
Health Risk
RS1754689321
Likely pathogenic
SPEF2-related disorder, SPEF2-related disorder
Health Risk
RS1230916222
Pathogenic
Spermatogenic failure 43, Spermatogenic failure 43
Health Risk
RS1375975527
Pathogenic
Spermatogenic failure 43, Spermatogenic failure 43
Health Risk
RS1391102782
Pathogenic
Spermatogenic failure 43, Spermatogenic failure 43
Health Risk
RS1580383744
Pathogenic
Spermatogenic failure 43, Spermatogenic failure 43
Health Risk
RS1580529760
Pathogenic
Spermatogenic failure 43, Spermatogenic failure 43
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138022749 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139580877 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201712580 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS202045210 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, SPEF2-related disorder, Inborn genetic diseases |
| RS371139224 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1239348737 | Health Risk | Likely pathogenic | SPEF2-related disorder, SPEF2-related disorder |
| RS1754689321 | Health Risk | Likely pathogenic | SPEF2-related disorder, SPEF2-related disorder |
| RS1230916222 | Health Risk | Pathogenic | Spermatogenic failure 43, Spermatogenic failure 43 |
| RS1375975527 | Health Risk | Pathogenic | Spermatogenic failure 43, Spermatogenic failure 43 |
| RS1391102782 | Health Risk | Pathogenic | Spermatogenic failure 43, Spermatogenic failure 43 |
| RS1580383744 | Health Risk | Pathogenic | Spermatogenic failure 43, Spermatogenic failure 43 |
| RS1580529760 | Health Risk | Pathogenic | Spermatogenic failure 43, Spermatogenic failure 43 |
| RS1580704451 | Health Risk | Pathogenic | Spermatogenic failure 43, Spermatogenic failure 43 |
| RS1580783651 | Health Risk | Pathogenic | Spermatogenic failure 43, Spermatogenic failure 43 |
| RS1739374011 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |