SYCE2: Synaptonemal Complex Central Element Protein 2
Key meiotic recombination protein involved in homologous chromosome pairing and synapsis
Gene Information Card
| Symbol | SYCE2 |
|---|---|
| Full Name | Synaptonemal Complex Central Element Protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 256126 ncbi.nlm.nih.gov/gene/256126 |
| Ensembl ID | ENSG00000161888 |
| UniProt ID | Q6P3W7 |
| OMIM ID | 611486 |
| HGNC ID | 28868 |
| Aliases | C19orf36, SPGF38 |
Description
SYCE2 (Synaptonemal Complex Central Element Protein 2) is a protein-coding gene located on chromosome 19p13.3. It encodes a component of the synaptonemal complex central element, which is critical for homologous chromosome pairing, synapsis, and recombination during meiosis. SYCE2 interacts with other central element proteins (SYCE1, SYCE3, TEX12) to form the transverse filaments that stabilize homologous chromosome alignment. Loss-of-function mutations in SYCE2 cause meiotic arrest and are associated with non-obstructive azoospermia and primary ovarian insufficiency.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-obstructive azoospermia (NOA) | Biallelic loss-of-function mutations disrupt synaptonemal complex assembly, leading to meiotic arrest and absence of sperm | ClinVar, OMIM |
| Primary ovarian insufficiency (POI) | Homozygous truncating variants impair oocyte meiosis, causing premature ovarian failure | ClinVar, OMIM |
| Spermatogenic failure 38 (SPGF38) | SYCE2 mutations cause meiotic arrest at zygotene/pachytene stage, resulting in azoospermia | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | High |
| Ovary | 4.8 | Medium |
| Fallopian tube | 2.1 | Low |
| Prostate | 1.3 | Low |
| Breast | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes (primary) | High | Enriched in meiotic cells |
| Oocytes | Medium | Detected in fetal and adult ovary |
| HEK293 | 0.2 | Minimal expression |
| K562 | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.238C>T (p.Arg80*) | Nonsense | Rare | Loss of function; truncated protein |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein translation |
| c.349_350del (p.Leu117Valfs*2) | Frameshift | Rare | Premature stop, loss of function |
| c.484C>T (p.Arg162Trp) | Missense | Rare | Likely damaging; disrupts protein interaction |
Mutation functional classification
Loss of Function (LOF)
Biallelic truncating or frameshift mutations cause complete loss of SYCE2 function, leading to meiotic arrest and infertility.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is recessive.
View complete mutation data：
Gene Ontology (GO)
| • synaptonemal complex assembly | • meiotic chromosome pairing |
| • homologous chromosome pairing at meiosis | • protein binding |
| • nucleus |
Pathways
• Meiotic synapsis (Reactome: R-HSA-1500620)
• Synaptonemal complex formation (KEGG: ko04113)
Protein Summary
SYCE2 is a 244-amino acid protein localized to the central element of the synaptonemal complex. It contains a coiled-coil domain that mediates homodimerization and interaction with SYCE1 and TEX12. The protein is essential for stabilizing the central element structure during meiotic prophase I. Without SYCE2, homologous chromosomes fail to synapse properly, leading to meiotic arrest and apoptosis of germ cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYCE2 Knockout HEK293 Cell Line | EDJ-KQ11817 | Human | 256126 | Details Get a Quote |
| SYCE2 Knockout HeLa Cell Line | EDJ-KQ40235 | Human | 256126 | Details Get a Quote |
| SYCE2 Knockout A-549 Cell Line | EDJ-KQ67760 | Human | 256126 | Details Get a Quote |
| SYCE2 Knockout HCT 116 Cell Line | EDJ-KQ76145 | Human | 256126 | Details Get a Quote |
