SYCP2L
Synaptonemal Complex Protein 2 Like
Gene Information Card
| Symbol | SYCP2L |
|---|---|
| Full Name | Synaptonemal Complex Protein 2 Like |
| Gene Type | protein-coding |
| Chromosomal Location | 6p12.1 |
| NCBI Gene ID | 221711 ncbi.nlm.nih.gov/gene/221711 |
| Ensembl ID | ENSG00000146374 |
| UniProt ID | Q5T3J3 |
| OMIM ID | 611413 |
| HGNC ID | 26985 |
| Aliases | SYCP2-like, C6orf179 |
Description
SYCP2L (Synaptonemal Complex Protein 2 Like) is a protein-coding gene located on chromosome 6p12.1. It encodes a component of the synaptonemal complex, a protein structure that mediates homologous chromosome pairing and recombination during meiosis. SYCP2L is specifically expressed in germ cells, particularly in oocytes, and is essential for female fertility. Mutations in SYCP2L have been associated with premature ovarian failure (POF) and non-obstructive azoospermia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Premature Ovarian Failure 17 (POF17) | Loss-of-function mutations impair synaptonemal complex assembly, leading to meiotic arrest and oocyte depletion. | OMIM #619146; ClinVar |
| Non-obstructive Azoospermia | Defective meiotic pairing in spermatocytes due to SYCP2L variants. | PubMed: 31474318 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | 12.5 | Medium |
| Testis | 8.2 | Low |
| Fallopian Tube | 3.1 | Low |
| Endometrium | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Ovary (Ovarian cancer cell line) | 5.0 | Moderate expression |
| Testis (Seminoma cell line) | 2.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.589C>T (p.Arg197*) | Nonsense | Rare | Loss of function; truncation of SYCP2L protein |
| c.1042_1043del (p.Leu348Glufs*2) | Frameshift | Rare | Loss of function; premature stop codon |
| c.1465G>A (p.Gly489Arg) | Missense | Rare | Likely damaging; disrupts protein structure |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent SYCP2L protein, impairing synaptonemal complex formation and meiotic progression.
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 assembly (GO:0007130) | • meiotic chromosome pairing (GO:0007129) |
| • meiotic cell cycle (GO:0051321) | • protein binding (GO:0005515) |
| • nucleus (GO:0005634) |
Pathways
• Meiosis (Reactome: R-HSA-1500620)
• Synaptonemal complex formation (Reactome: R-HSA-912446)
Protein Summary
SYCP2L is a 1,200-amino acid protein that localizes to the synaptonemal complex during meiotic prophase I. It interacts with SYCP2 and SYCP3 to form the lateral elements of the complex, facilitating homologous chromosome synapsis and crossover. The protein is predominantly expressed in germ cells, with highest levels in oocytes. Loss of SYCP2L leads to meiotic arrest and apoptosis of germ cells, resulting in infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| 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 |
| SYCP2L Knockout HeLa Cell Line | EDJ-KQ59176 | Human | 221711 | Details Get a Quote |
