TEX14 (Testis Expressed 14, Intercellular Bridge Forming Factor)
Essential regulator of germ cell intercellular bridge formation and male fertility
Gene Information Card
| Symbol | TEX14 |
|---|---|
| Full Name | Testis Expressed 14, Intercellular Bridge Forming Factor |
| Gene Type | Protein coding |
| Chromosomal Location | 17q22 |
| NCBI Gene ID | 56155 ncbi.nlm.nih.gov/gene/56155 |
| Ensembl ID | ENSG00000141510 |
| UniProt ID | Q8IWB6 |
| OMIM ID | 605792 |
| HGNC ID | 11737 |
| Aliases | FLJ10385, MGC138290, MGC138291 |
Description
TEX14 encodes a protein essential for the formation and stabilization of intercellular bridges between germ cells during spermatogenesis. These bridges allow cytoplasmic sharing and are critical for synchronous development of spermatids. Loss-of-function mutations in TEX14 cause non-obstructive azoospermia and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure 20 (SPGF20) | Loss of TEX14 disrupts intercellular bridge formation, leading to meiotic arrest and absence of mature spermatozoa. | OMIM #618145; ClinVar pathogenic variants |
| Non-obstructive azoospermia | Biallelic TEX14 mutations impair germ cell syncytium, resulting in azoospermia. | Case-control studies; NCBI GeneReviews |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.2 | High |
| Fallopian tube | 0.8 | Low |
| Ovary | 0.5 | Low |
| Prostate | 0.3 | Low |
| Other tissues | <0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes (primary) | High | Key site of intercellular bridge formation |
| Spermatids | High | Cytoplasmic bridges essential for differentiation |
| Sertoli cells | Low | Supporting role only |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.184C>T (p.Arg62*) | Nonsense | Rare | Premature stop; loss of protein function |
| c.1015G>A (p.Gly339Arg) | Missense | Rare | Disrupts bridge formation |
| c.1462_1463del (p.Leu488fs) | Frameshift | Rare | Loss of C-terminal domain |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations (nonsense, frameshift, splice-site) cause complete absence of intercellular bridges, leading to spermatogenic arrest.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data:
Gene Ontology (GO)
| • intercellular bridge | • spermatogenesis |
| • male meiosis I | • cytoplasmic transport |
| • cell-cell junction |
Pathways
• Intercellular bridge formation
• Spermatid development
• Germ cell syncytium
Protein Summary
TEX14 is a 1499-amino-acid protein localized to the germ cell intercellular bridge. It contains coiled-coil domains and interacts with other bridge components (e.g., CEP55, RAB11) to stabilize the ring-shaped structure. Without TEX14, bridges fail to form, and spermatogenesis halts at the meiotic stage.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TEX14 Knockout HEK293 Cell Line | EDJ-KQ14921 | Human | 56155 | Details Get a Quote |
| TEX14 Knockout HCT 116 Cell Line | EDJ-KQ46608 | Human | 56155 | Details Get a Quote |
| TEX14 Knockout HeLa Cell Line | EDJ-KQ56710 | Human | 56155 | Details Get a Quote |
| TEX14 Knockout A-549 Cell Line | EDJ-KQ65216 | Human | 56155 | Details Get a Quote |