SYCP2: Synaptonemal Complex Protein 2
A key meiotic structural protein essential for homologous chromosome pairing and recombination.
Gene Information Card
| Symbol | SYCP2 |
|---|---|
| Full Name | Synaptonemal Complex Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.33 |
| NCBI Gene ID | 10388 ncbi.nlm.nih.gov/gene/10388 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9BX26 |
| OMIM ID | 604759 |
| HGNC ID | 11490 |
| Aliases | SCYP2, SCP-2, SCP2 |
Description
SYCP2 (Synaptonemal Complex Protein 2) encodes a major structural component of the synaptonemal complex, a protein scaffold that holds homologous chromosomes together during prophase I of meiosis. SYCP2 localizes to the lateral elements of the complex and is essential for proper chromosome synapsis, crossover formation, and meiotic progression. Loss of SYCP2 function leads to meiotic arrest and infertility in males.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-obstructive azoospermia (NOA) | SYCP2 mutations disrupt synaptonemal complex assembly, causing meiotic arrest at the zygotene/pachytene stage and failure to produce mature sperm. | PMID: 25788567; ClinVar |
| Spermatogenic failure 1 (SPGF1) | Biallelic loss-of-function variants in SYCP2 result in complete meiotic arrest and azoospermia. | OMIM #604759; PMID: 25788567 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Ovary | 4.2 | Low |
| Lymph node | 0.8 | Not detected |
| Brain | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 15.2 | Meiotic germ cell model |
| HEK293 | 0.1 | Non-meiotic control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Premature stop; loss of protein function |
| c.1567_1568del (p.Leu523fs) | Frameshift | Rare | Frameshift; truncated protein |
| c.2101G>A (p.Gly701Arg) | Missense | Rare | Likely damaging; disrupts coiled-coil domain |
Mutation functional classification
Loss of Function (LOF)
Biallelic truncating or frameshift mutations cause complete loss of SYCP2 function, leading to meiotic arrest and azoospermia.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Meiotic synapsis (Reactome: R-HSA-912446)
• Meiotic recombination (Reactome: R-HSA-1500620)
Protein Summary
SYCP2 is a 1,530-amino-acid protein that forms the lateral elements of the synaptonemal complex. It contains a central coiled-coil domain and interacts with SYCP3 to stabilize the complex. During meiosis, SYCP2 is essential for tethering homologous chromosomes and facilitating crossover formation. In humans, SYCP2 is predominantly expressed in testis and ovary, with highest levels in spermatocytes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYCP2 Knockout HEK293 Cell Line | EDJ-KQ7037 | Human | 10388 | Details Get a Quote |
| SYCP2L Knockout HEK293 Cell Line | EDJ-KQ8872 | Human | 221711 | Details Get a Quote |
| SYCP2L Knockout A-549 Cell Line | EDJ-KQ35191 | Human | 221711 | Details Get a Quote |
| SYCP2L Knockout HCT 116 Cell Line | EDJ-KQ35192 | Human | 221711 | Details Get a Quote |
| SYCP2 Knockout A-549 Cell Line | EDJ-KQ31798 | Human | 10388 | Details Get a Quote |
| SYCP2 Knockout HeLa Cell Line | EDJ-KQ31799 | Human | 10388 | Details Get a Quote |
| SYCP2L Knockout HeLa Cell Line | EDJ-KQ59176 | Human | 221711 | Details Get a Quote |
| SYCP2 Knockout HCT 116 Cell Line | EDJ-KQ72335 | Human | 10388 | Details Get a Quote |
