GCNA Chromosome X
Germ cell nuclear acidic peptidase
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What This Gene Does
Enables SUMO polymer binding activity. Involved in protein-DNA covalent cross-linking repair. Located in PML body. Implicated in X-linked spermatogenic failure 4. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (8)
Thyroid cancer
nonmedullary
1
Non-obstructive azoospermia
Spermatogenic failure
X-linked
4
Azoospermia
Key Variants
RS756523292
Conflicting classifications of pathogenicity
Thyroid cancer, nonmedullary, 1
Health Risk
RS2147727146
Likely pathogenic
Non-obstructive azoospermia, Spermatogenic failure, X-linked
Health Risk
RS2147728009
Pathogenic
Spermatogenic failure, X-linked, 4
Health Risk
RS2147729149
Pathogenic
Non-obstructive azoospermia, Spermatogenic failure, X-linked
Health Risk
RS2147732931
Pathogenic
Azoospermia, Spermatogenic failure, X-linked
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS756523292 | Health Risk | Conflicting classifications of pathogenicity | Thyroid cancer, nonmedullary, 1 |
| RS2147727146 | Health Risk | Likely pathogenic | Non-obstructive azoospermia, Spermatogenic failure, X-linked |
| RS2147728009 | Health Risk | Pathogenic | Spermatogenic failure, X-linked, 4 |
| RS2147729149 | Health Risk | Pathogenic | Non-obstructive azoospermia, Spermatogenic failure, X-linked |
| RS2147732931 | Health Risk | Pathogenic | Azoospermia, Spermatogenic failure, X-linked |