SYCP2 Chromosome 20
Synaptonemal complex protein 2
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What This Gene Does
The synaptonemal complex is a proteinaceous structure that links homologous chromosomes during the prophase of meiosis. The protein encoded by this gene is a major component of the synaptonemal complex and may bind DNA at scaffold attachment regions. The encoded protein requires synaptonemal complex protein 3, but not 1, for inclusion in the synaptonemal complex. [provided by RefSeq, Jul 2008]
Associated Conditions (5)
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Oligosynaptic infertility
Cryptozoospermia
Non-obstructive azoospermia
Spermatocyte maturation arrest
Key Variants
RS2517469276
Likely pathogenic
Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
Health Risk
RS2517481810
Likely pathogenic
Oligosynaptic infertility, Oligosynaptic infertility
Health Risk
RS1600840291
Pathogenic/Likely pathogenic
Oligosynaptic infertility, Cryptozoospermia, Non-obstructive azoospermia
Health Risk
RS1600877766
Pathogenic/Likely pathogenic
Oligosynaptic infertility, Cryptozoospermia, Non-obstructive azoospermia
Health Risk
RS753462162
Pathogenic/Likely pathogenic
Oligosynaptic infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2517469276 | Health Risk | Likely pathogenic | Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS2517481810 | Health Risk | Likely pathogenic | Oligosynaptic infertility, Oligosynaptic infertility |
| RS1600840291 | Health Risk | Pathogenic/Likely pathogenic | Oligosynaptic infertility, Cryptozoospermia, Non-obstructive azoospermia |
| RS1600877766 | Health Risk | Pathogenic/Likely pathogenic | Oligosynaptic infertility, Cryptozoospermia, Non-obstructive azoospermia |
| RS753462162 | Health Risk | Pathogenic/Likely pathogenic | Oligosynaptic infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |