DPY19L2 Chromosome 12
Dpy-19 like 2
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What This Gene Does
The protein encoded by this gene belongs to the dpy-19 family. It is highly expressed in testis, and is required for sperm head elongation and acrosome formation during spermatogenesis. Mutations in this gene are associated with an infertility disorder, spermatogenic failure type 9 (SPGF9). [provided by RefSeq, Dec 2011]
Associated Conditions (4)
Spermatogenic failure 9
Thyroid cancer
nonmedullary
1
Key Variants
RS147579680
Pathogenic
Spermatogenic failure 9, Thyroid cancer, nonmedullary
Health Risk
RS587777205
Pathogenic
Spermatogenic failure 9, Spermatogenic failure 9
Health Risk
RS587777206
Pathogenic
Spermatogenic failure 9, Spermatogenic failure 9
Health Risk
RS751879424
Pathogenic
Spermatogenic failure 9, Spermatogenic failure 9
Health Risk
RS752764341
Pathogenic
Spermatogenic failure 9, Spermatogenic failure 9
Health Risk
RS868256749
Pathogenic
Spermatogenic failure 9, Spermatogenic failure 9
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147579680 | Health Risk | Pathogenic | Spermatogenic failure 9, Thyroid cancer, nonmedullary |
| RS587777205 | Health Risk | Pathogenic | Spermatogenic failure 9, Spermatogenic failure 9 |
| RS587777206 | Health Risk | Pathogenic | Spermatogenic failure 9, Spermatogenic failure 9 |
| RS751879424 | Health Risk | Pathogenic | Spermatogenic failure 9, Spermatogenic failure 9 |
| RS752764341 | Health Risk | Pathogenic | Spermatogenic failure 9, Spermatogenic failure 9 |
| RS868256749 | Health Risk | Pathogenic | Spermatogenic failure 9, Spermatogenic failure 9 |