TNP2: Transition Protein 2
A key spermatid-specific nuclear protein involved in chromatin condensation during spermiogenesis
Gene Information Card
| Symbol | TNP2 |
|---|---|
| Full Name | Transition Protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.13 |
| NCBI Gene ID | 7142 ncbi.nlm.nih.gov/gene/7142 |
| Ensembl ID | ENSG00000130724 |
| UniProt ID | P11396 |
| OMIM ID | 190231 |
| HGNC ID | 11950 |
| Aliases | TP2, STP2 |
Description
TNP2 encodes transition protein 2, a basic nuclear protein expressed specifically in haploid spermatids during spermiogenesis. It replaces histones and facilitates chromatin condensation, ultimately being replaced by protamines. TNP2 is critical for proper sperm head formation and male fertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Altered TNP2 expression or mutations disrupt chromatin condensation, leading to abnormal sperm morphology and reduced fertility. | ClinVar, OMIM |
| Oligozoospermia | Deficient TNP2 levels impair histone-to-protamine transition, resulting in reduced sperm count. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.3 | High |
| Fallopian tube | 0.2 | Not detected |
| Prostate | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatid (round) | 27.3 | High expression in haploid spermatids |
| Spermatozoa | 0.5 | Low or absent after protamine replacement |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Likely loss of start codon, reduced protein expression |
| c.79C>T (p.Arg27Trp) | Missense | <0.01% | Altered DNA binding affinity, associated with infertility |
Mutation functional classification
Loss of Function (LOF)
Mutations that abolish TNP2 expression or disrupt its DNA-binding ability impair chromatin condensation, leading to spermatogenic failure.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects; TNP2 acts in a haploinsufficient manner.
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • nucleosome assembly (GO:0006334) |
| • spermatogenesis (GO:0007283) | • DNA binding (GO:0003677) |
| • nucleosome (GO:0000786) |
Pathways
• Spermatogenesis (Reactome: R-HSA-1500620)
• Chromatin condensation during spermiogenesis
Protein Summary
Transition protein 2 (TNP2) is a 13.5 kDa basic nuclear protein expressed in elongating spermatids. It binds DNA and facilitates the replacement of histones by protamines, essential for sperm chromatin compaction. TNP2 contains a central DNA-binding domain rich in arginine and lysine residues. Its expression is tightly regulated during spermiogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TNP2 Knockout HEK293 Cell Line | EDJ-KQ5953 | Human | 7142 | Details Get a Quote |
| TNP2 Knockout HeLa Cell Line | EDJ-KQ54683 | Human | 7142 | Details Get a Quote |
| TNP2 Knockout A-549 Cell Line | EDJ-KQ63166 | Human | 7142 | Details Get a Quote |
| TNP2 Knockout HCT 116 Cell Line | EDJ-KQ71640 | Human | 7142 | Details Get a Quote |
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