SYCE3: Synaptonemal Complex Central Element Protein 3
A key meiotic protein essential for synaptonemal complex assembly and homologous chromosome pairing during spermatogenesis and oogenesis.
Gene Information Card
| Symbol | SYCE3 |
|---|---|
| Full Name | Synaptonemal Complex Central Element Protein 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.33 |
| NCBI Gene ID | 84246 ncbi.nlm.nih.gov/gene/84246 |
| Ensembl ID | ENSG00000100290 |
| UniProt ID | Q8IZU0 |
| OMIM ID | 611259 |
| HGNC ID | HGNC:28268 |
| Aliases | C14orf39, C14orf40, SPGF26, POF16 |
Description
SYCE3 (Synaptonemal Complex Central Element Protein 3) encodes a component of the synaptonemal complex central element, which is essential for homologous chromosome pairing and recombination during meiosis. The protein localizes to the central element of the synaptonemal complex and interacts with other central element proteins (SYCE1, SYCE2, TEX12) to form a transverse filament network. Loss of SYCE3 function disrupts synapsis, leading to meiotic arrest and infertility in both males and females.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-obstructive azoospermia (SPGF26) | Biallelic loss-of-function mutations cause meiotic arrest at zygotene/pachytene, preventing sperm formation. | PMID: 29304345, 30368668 |
| Premature ovarian failure 16 (POF16) | Biallelic mutations disrupt oocyte synapsis, leading to ovarian insufficiency and early menopause. | PMID: 29304345, 30368668 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Ovary | 3.2 | Medium |
| Fallopian tube | 0.8 | Low |
| Endometrium | 0.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes | 18.0 | Enriched in meiotic cells |
| Oocytes | 6.5 | Detected in fetal and adult ovary |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.550C>T (p.Arg184Ter) | Nonsense | Rare | Loss of function; truncation of C-terminal domain |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no protein translation |
| c.382_383del (p.Leu128GlufsTer2) | Frameshift | Rare | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations (nonsense, frameshift, start loss) cause meiotic arrest and infertility.
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)
| • synaptonemal complex (GO:0000794) | • reciprocal meiotic recombination (GO:0007131) |
| • synapsis (GO:0007129) | • nucleus (GO:0005634) |
Pathways
• Meiotic synapsis (Reactome: R-HSA-912446)
• Synaptonemal complex assembly (Reactome: R-HSA-1500620)
Protein Summary
SYCE3 is a 213-amino acid protein (UniProt Q8IZU0) that localizes to the central element of the synaptonemal complex. It contains a coiled-coil domain and interacts with SYCE1, SYCE2, and TEX12 to form a stable central element structure. The protein is essential for homologous chromosome synapsis and crossover formation during meiosis I. Expression is predominantly in testis and ovary, with highest levels in spermatocytes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYCE3 Knockout HEK293 Cell Line | EDJ-KQ15578 | Human | 644186 | Details Get a Quote |
| SYCE3 Knockout HCT 116 Cell Line | EDJ-KQ46447 | Human | 644186 | Details Get a Quote |
| SYCE3 Knockout HeLa Cell Line | EDJ-KQ60568 | Human | 644186 | Details Get a Quote |
| SYCE3 Knockout A-549 Cell Line | EDJ-KQ69038 | Human | 644186 | Details Get a Quote |
