YBX2: Y-Box Binding Protein 2 – A Key Regulator of Germ Cell Development and Male Fertility
Comprehensive gene card for YBX2 (MSY2, CONT) – structure, function, expression, mutations, and clinical relevance
Gene Information Card
| Symbol | YBX2 |
|---|---|
| Full Name | Y-box binding protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 51087 ncbi.nlm.nih.gov/gene/51087 |
| Ensembl ID | ENSG00000108379 |
| UniProt ID | Q9Y2T7 |
| OMIM ID | 611447 |
| HGNC ID | 28946 |
| Aliases | MSY2, CONT |
Description
YBX2 (Y-box binding protein 2), also known as MSY2 or CONT, encodes a member of the Y-box binding protein family. This protein is a DNA/RNA-binding factor that regulates transcription and translation, playing a critical role in germ cell development, particularly in spermatogenesis. It is highly expressed in testis and is essential for male fertility. YBX2 binds to Y-box elements in promoters and to mRNA, influencing mRNA storage, stability, and translation in germ cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (azoospermia, oligozoospermia) | Loss of YBX2 disrupts spermatogenesis, leading to reduced or absent sperm production | Case-control studies; mouse knockout models (Yang et al., 2005) |
| Spermatogenic failure | YBX2 mutations impair mRNA regulation in germ cells, causing meiotic arrest | Exome sequencing in infertile men (PMID: 25620204) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 89.2 | High |
| Fallopian tube | 1.8 | Low |
| Prostate | 1.2 | Low |
| Ovary | 0.9 | Low |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 12.5 | Germ cell tumor model |
| Embryonic stem cells (H1) | 0.3 | Low expression |
| HeLa | 0.1 | Not significant |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.293C>T (p.Pro98Leu) | Missense | Rare (0.0004) | Altered RNA-binding affinity; associated with spermatogenic failure |
| c.416_417del (p.Lys139Argfs*12) | Frameshift | Very rare | Loss of function; predicted to cause premature truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein lead to loss of RNA-binding and regulatory functions, impairing germ cell development.
Gain of Function (GOF)
No gain-of-function mutations reported for YBX2.
Dominant Negative (DN)
No dominant-negative mutations described; YBX2 likely acts as a monomer.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • DNA binding (GO:0003677) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • spermatogenesis (GO:0007283) | • oogenesis (GO:0048477) |
| • regulation of translation (GO:0006417) |
Pathways
• mRNA surveillance pathway
• Germ cell development
• Translational regulation in spermatogenesis
Protein Summary
YBX2 is a 364-amino acid protein containing a cold-shock domain (CSD) that mediates nucleic acid binding. It shuttles between nucleus and cytoplasm, binding to Y-box sequences in DNA and to mRNA. In testis, YBX2 is essential for the post-transcriptional regulation of germ cell-specific mRNAs, including those required for meiotic and post-meiotic stages. Loss of YBX2 leads to defective spermatogenesis and male infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| YBX2 Knockout HEK293 Cell Line | EDJ-KQ2774 | Human | 51087 | Details Get a Quote |
| YBX2 Knockout A-549 Cell Line | EDJ-KQ25073 | Human | 51087 | Details Get a Quote |
| YBX2 Knockout HCT 116 Cell Line | EDJ-KQ25075 | Human | 51087 | Details Get a Quote |
| YBX2 Knockout HeLa Cell Line | EDJ-KQ56226 | Human | 51087 | Details Get a Quote |
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