TEX12 (Testis Expressed 12)
A meiotic recombination and synaptonemal complex component gene
Gene Information Card
| Symbol | TEX12 |
|---|---|
| Full Name | Testis Expressed 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q22.3 |
| NCBI Gene ID | 56158 ncbi.nlm.nih.gov/gene/56158 |
| Ensembl ID | ENSG00000149091 |
| UniProt ID | Q9BXU0 |
| OMIM ID | 617745 |
| HGNC ID | 11738 |
| Aliases | MGC12966, SPGF46 |
Description
TEX12 encodes a component of the synaptonemal complex, a protein structure that mediates homologous chromosome pairing and recombination during meiosis. The protein localizes to the central element of the synaptonemal complex and is essential for meiotic progression in germ cells. Expression is predominantly in testis, with lower levels in ovary and other tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure 46 (SPGF46) | Loss-of-function mutations in TEX12 disrupt synaptonemal complex assembly, leading to meiotic arrest and azoospermia. | OMIM #619145; PMID: 32098966 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Ovary | 2.1 | Low |
| Fallopian tube | 1.8 | Low |
| Prostate | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 15.3 | Testicular germ cell tumor model |
| HEK293 | 0.2 | Low expression |
| K562 | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense / start loss | Rare | Loss of protein expression; associated with SPGF46 |
| c.238C>T (p.Arg80*) | Nonsense | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations cause loss of TEX12 protein, impairing synaptonemal complex formation and meiotic recombination.
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 (GO:0000794) | • nucleus (GO:0005634) |
| • reciprocal meiotic recombination (GO:0007131) | • oogenesis (GO:0048477) |
| • spermatogenesis (GO:0007283) |
Pathways
• Meiotic recombination (Reactome: R-HSA-912446)
• Synaptonemal complex assembly (Reactome: R-HSA-1500620)
Protein Summary
TEX12 is a 167-amino acid protein (18.6 kDa) localized to the central element of the synaptonemal complex. It interacts with other synaptonemal complex proteins (e.g., SYCE1, SYCE2) to stabilize homologous chromosome pairing during prophase I of meiosis. The protein contains a coiled-coil domain that mediates oligomerization and complex assembly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TEX12 Knockout HEK293 Cell Line | EDJ-KQ15691 | Human | 56158 | Details Get a Quote |
| TEX12 Knockout HeLa Cell Line | EDJ-KQ56713 | Human | 56158 | Details Get a Quote |
| TEX12 Knockout A-549 Cell Line | EDJ-KQ65219 | Human | 56158 | Details Get a Quote |
| TEX12 Knockout HCT 116 Cell Line | EDJ-KQ73656 | Human | 56158 | Details Get a Quote |
