SYCP3: Synaptonemal Complex Protein 3
A key meiotic structural protein involved in chromosome synapsis and recombination; mutations are linked to male infertility and recurrent miscarriage.
Gene Information Card
| Symbol | SYCP3 |
|---|---|
| Full Name | Synaptonemal Complex Protein 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q23.2 |
| NCBI Gene ID | 50511 ncbi.nlm.nih.gov/gene/50511 |
| Ensembl ID | ENSG00000139352 |
| UniProt ID | Q8IZU3 |
| OMIM ID | 604759 |
| HGNC ID | 11467 |
| Aliases | SCP3, COR1 |
Description
SYCP3 encodes a major structural component of the synaptonemal complex, a protein scaffold that holds homologous chromosomes together during meiosis. It is essential for proper chromosome synapsis, recombination, and segregation in germ cells. Loss of SYCP3 function leads to meiotic arrest and infertility in males and increased risk of aneuploidy in females.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility with azoospermia | Homozygous or compound heterozygous loss-of-function mutations disrupt synaptonemal complex assembly, causing meiotic arrest at the pachytene stage. | ClinVar, OMIM #270960 |
| Recurrent miscarriage (susceptibility) | Heterozygous mutations may impair meiotic cohesion, leading to aneuploidy in oocytes and early pregnancy loss. | OMIM #604759, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 42.3 | High |
| Ovary | 5.1 | Low |
| Fallopian tube | 0.8 | Not detected |
| Prostate | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes | High | Enriched in meiotic cells |
| Oocytes | Moderate | Stage-specific expression |
| HEK293 | 0.1 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.643delA (p.Thr215Profs*7) | Frameshift | Rare | Loss of function; associated with azoospermia |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of protein; male infertility |
| c.482G>A (p.Arg161Gln) | Missense | <0.01% | Dominant-negative effect; linked to recurrent miscarriage |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations truncate the protein, preventing synaptonemal complex formation and causing meiotic arrest.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense variants (e.g., p.Arg161Gln) disrupt coiled-coil interactions, impairing complex assembly in heterozygotes.
View complete mutation data：
Gene Ontology (GO)
| • synaptonemal complex (GO:0000795) | • chromosome (GO:0005694) |
| • reciprocal meiotic recombination (GO:0007131) | • synapsis (GO:0007129) |
| • nucleus (GO:0005634) |
Pathways
• Meiotic synapsis (Reactome: R-HSA-912446)
• Meiotic recombination (Reactome: R-HSA-912446)
Protein Summary
SYCP3 (also known as SCP3 or COR1) is a 236-amino-acid protein that forms the lateral elements of the synaptonemal complex. It contains a coiled-coil domain that mediates homodimerization and interaction with SYCP2. During prophase I of meiosis, SYCP3 assembles along chromosome axes, facilitating homologous pairing and crossover formation. The protein is testis-enriched and essential for male fertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYCP3 Knockout HEK293 Cell Line | EDJ-KQ10764 | Human | 50511 | Details Get a Quote |
| SYCP3 Knockout HeLa Cell Line | EDJ-KQ56169 | Human | 50511 | Details Get a Quote |
| SYCP3 Knockout A-549 Cell Line | EDJ-KQ64659 | Human | 50511 | Details Get a Quote |
| SYCP3 Knockout HCT 116 Cell Line | EDJ-KQ73108 | Human | 50511 | Details Get a Quote |
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