TEKT2: Tektin-2 – A Key Component of Ciliary and Flagellar Microtubules
Essential for sperm motility and respiratory cilia function; mutations linked to primary ciliary dyskinesia and male infertility.
Gene Information Card
| Symbol | TEKT2 |
|---|---|
| Full Name | tektin 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p34.3 |
| NCBI Gene ID | 27285 ncbi.nlm.nih.gov/gene/27285 |
| Ensembl ID | ENSG00000143322 |
| UniProt ID | Q9UIF3 |
| OMIM ID | 604894 |
| HGNC ID | 11700 |
| Aliases | Tektin-2, Tektin-t, Tektin2 |
Description
TEKT2 encodes tektin-2, a member of the tektin family of filament-forming proteins that associate with microtubules in ciliary and flagellar axonemes. Tektin-2 is essential for the structural integrity and stability of the axonemal microtubule doublets, playing a critical role in ciliary motility and sperm flagellar movement. Mutations in TEKT2 can disrupt ciliary function, leading to primary ciliary dyskinesia (PCD) and male infertility due to impaired sperm motility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | Loss-of-function mutations in TEKT2 disrupt axonemal microtubule stability, impairing mucociliary clearance and causing chronic respiratory infections. | ClinVar; PMID: 24891358 |
| Male Infertility (asthenozoospermia) | TEKT2 mutations lead to defective sperm flagellar axonemes, resulting in reduced or absent sperm motility. | OMIM; PMID: 24891358 |
| Situs Inversus | In some PCD cases, defective ciliary function during embryonic development can cause randomization of left-right body asymmetry. | ClinVar; PMID: 24891358 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Trachea | 12.8 | Medium |
| Lung | 8.5 | Medium |
| Fallopian Tube | 6.3 | Low |
| Brain (cerebellum) | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 (retinal pigment epithelium) | 15.0 | Ciliated cell line; high expression |
| BEAS-2B (bronchial epithelium) | 9.5 | Respiratory ciliated cells |
| HeLa (cervical carcinoma) | 1.2 | Non-ciliated; low expression |
| K562 (leukemia) | 0.5 | No cilia; negligible expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.442C>T (p.Arg148*) | Nonsense | Rare | Loss of function; premature truncation of tektin-2 |
| c.832G>A (p.Gly278Arg) | Missense | Rare | Likely damaging; disrupts microtubule binding |
| c.124_125del (p.Leu42Valfs*12) | Frameshift | Rare | Loss of function; early truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg148*, p.Leu42Valfs*12) cause premature termination, leading to loss of tektin-2 protein and defective axonemal structure.
Gain of Function (GOF)
No gain-of-function mutations reported for TEKT2.
Dominant Negative (DN)
No dominant-negative mutations reported; TEKT2-associated PCD follows autosomal recessive inheritance.
View complete mutation data：
Gene Ontology (GO)
| • microtubule (GO:0005874) | • axonemal dynein complex (GO:0005858) |
| • cilium movement (GO:0003341) | • axoneme assembly (GO:0035082) |
| • protein binding (GO:0005515) | • cilium (GO:0005929) |
Pathways
• Ciliary and flagellar motility (Reactome: R-HSA-5620920)
• Assembly of the axoneme (Reactome: R-HSA-5620916)
Protein Summary
Tektin-2 is a 55 kDa protein that forms coiled-coil filaments along the length of ciliary and flagellar axonemes. It binds to microtubules and stabilizes the doublet structure, interacting with other tektins and dynein complexes. The protein is highly expressed in tissues with motile cilia, particularly testis and respiratory epithelium. Loss of tektin-2 leads to axonemal disorganization and impaired motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TEKT2 Knockout HEK293 Cell Line | EDJ-KQ8748 | Human | 27285 | Details Get a Quote |
| TEKT2 Knockout HeLa Cell Line | EDJ-KQ56045 | Human | 27285 | Details Get a Quote |
| TEKT2 Knockout A-549 Cell Line | EDJ-KQ64531 | Human | 27285 | Details Get a Quote |
| TEKT2 Knockout HCT 116 Cell Line | EDJ-KQ72990 | Human | 27285 | Details Get a Quote |
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