PRM2 (Protamine 2)
A key sperm nuclear protein involved in chromatin condensation and male fertility.
Gene Information Card
| Symbol | PRM2 |
|---|---|
| Full Name | Protamine 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.13 |
| NCBI Gene ID | 5620 ncbi.nlm.nih.gov/gene/5620 |
| Ensembl ID | ENSG00000161999 |
| UniProt ID | P04554 |
| OMIM ID | 182890 |
| HGNC ID | 9448 |
| Aliases | CT94.2, P2 |
Description
PRM2 encodes protamine 2, a small arginine-rich nuclear protein that replaces histones during spermatogenesis, enabling tight packaging of sperm DNA. It is essential for normal sperm chromatin condensation, motility, and fertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Altered PRM2 expression or mutations disrupt chromatin condensation, leading to abnormal sperm morphology and reduced motility. | ClinVar, OMIM |
| Spermatogenic failure 1 (SPGF1) | Homozygous or compound heterozygous mutations in PRM2 cause complete or partial protamine deficiency. | OMIM #182890 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 125.8 | High |
| Fallopian tube | 0.2 | Not detected |
| Prostate | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatozoa (mature) | N/A | High expression; major nuclear protein |
| Testicular germ cells (round spermatids) | N/A | Expressed during spermiogenesis |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.248G>A (p.Arg83His) | Missense | Rare | Reduced DNA binding affinity; associated with infertility |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of protein expression; severe spermatogenic failure |
Mutation functional classification
Loss of Function (LOF)
Mutations that abolish protamine 2 expression or impair DNA binding (e.g., start loss, frameshift) lead to defective chromatin condensation and male infertility.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects; PRM2 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding (GO:0003677) | • nucleus (GO:0005634) |
| • spermatogenesis (GO:0007283) | • chromatin condensation (GO:0030261) |
| • male gamete generation (GO:0048232) |
Pathways
• Spermatogenesis (Reactome: R-HSA-1500620)
• Chromatin condensation in sperm (KEGG: hsa04912)
Protein Summary
Protamine 2 is a 57-amino acid basic nuclear protein expressed exclusively in the testis during spermiogenesis. It replaces histones and facilitates hypercondensation of sperm chromatin, protecting the paternal genome and enabling normal sperm motility. Defects in PRM2 are a known cause of male infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRM2 Knockout HEK293 Cell Line | EDJ-KQ5542 | Human | 5620 | Details Get a Quote |
| PRM2 Knockout HeLa Cell Line | EDJ-KQ54221 | Human | 5620 | Details Get a Quote |
| PRM2 Knockout A-549 Cell Line | EDJ-KQ62715 | Human | 5620 | Details Get a Quote |
| PRM2 Knockout HCT 116 Cell Line | EDJ-KQ71187 | Human | 5620 | Details Get a Quote |
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