TEKT4: Tektin-4 – A Key Component of Ciliary and Flagellar Structure
Essential for microtubule stability in cilia, flagella, and sperm motility; implicated in primary ciliary dyskinesia and cancer.
Gene Information Card
| Symbol | TEKT4 |
|---|---|
| Full Name | tektin 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p16.1 |
| NCBI Gene ID | 143684 ncbi.nlm.nih.gov/gene/143684 |
| Ensembl ID | ENSG00000162931 |
| UniProt ID | Q8WW24 |
| OMIM ID | 615171 |
| HGNC ID | 28895 |
| Aliases | Tektin-4, MGC10744 |
Description
TEKT4 encodes tektin-4, a member of the tektin family of filament-forming proteins that associate with microtubules in ciliary and flagellar axonemes. Tektin-4 is essential for microtubule stability, ciliary motility, and sperm flagellar function. Mutations in TEKT4 are associated with primary ciliary dyskinesia (PCD) and have been implicated in certain cancers through altered expression and somatic mutations.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | Loss-of-function mutations disrupt axonemal microtubule stability, impairing ciliary motility. | ClinVar, OMIM |
| Spermatogenic Failure / Asthenozoospermia | Defects in tektin-4 lead to abnormal sperm flagellar structure and reduced motility. | NCBI Gene, OMIM |
| Breast Cancer | Somatic mutations and altered expression of TEKT4 may contribute to tumor progression. | COSMIC |
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 | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HAP1 | 0.0 | No expression (CRISPR knockout line) |
| HeLa | 0.5 | Very low |
| A549 | 1.2 | Low |
| MCF7 | 0.8 | Low |
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; associated with PCD |
| c.832G>A (p.Glu278Lys) | Missense | Rare | Likely damaging; reported in ClinVar |
| c.1045_1046del (p.Leu349Valfs*2) | Frameshift | Rare | Loss of function; PCD |
| c.1234A>G (p.Ile412Val) | Missense | 0.001% (gnomAD) | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg148*, p.Leu349Valfs*2) cause premature truncation, leading to loss of tektin-4 function and ciliary dyskinesia.
Gain of Function (GOF)
No gain-of-function mutations reported for TEKT4.
Dominant Negative (DN)
No dominant-negative mutations described; TEKT4 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cilium Assembly (Reactome: R-HSA-5617833)
• Axoneme formation (Reactome: R-HSA-5620920)
• Spermatogenesis (KEGG: hsa04750)
Protein Summary
Tektin-4 is a 48 kDa protein that forms coiled-coil filaments along microtubules in ciliary and flagellar axonemes. It interacts with other tektins and microtubule-associated proteins to stabilize the axonemal structure. In humans, TEKT4 is highly expressed in testis and ciliated tissues. Loss of function leads to primary ciliary dyskinesia and male infertility due to impaired sperm motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TEKT4 Knockout HEK293 Cell Line | EDJ-KQ11302 | Human | 150483 | Details Get a Quote |
| TEKT4 Knockout HeLa Cell Line | EDJ-KQ58664 | Human | 150483 | Details Get a Quote |
| TEKT4 Knockout A-549 Cell Line | EDJ-KQ67146 | Human | 150483 | Details Get a Quote |
| TEKT4 Knockout HCT 116 Cell Line | EDJ-KQ75551 | Human | 150483 | Details Get a Quote |
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