TECTA Gene: Alpha-Tectorin in Hearing and Deafness
Comprehensive genomic and proteomic analysis of TECTA, a key component of the tectorial membrane in the inner ear.
Gene Information Card
| Symbol | TECTA |
|---|---|
| Full Name | tectorin alpha |
| Gene Type | protein-coding |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 7007 ncbi.nlm.nih.gov/gene/7007 |
| Ensembl ID | ENSG00000109927 |
| UniProt ID | O75443 |
| OMIM ID | 602574 |
| HGNC ID | 11720 |
| Aliases | DFNA12, DFNB21, alpha-tectorin |
Description
The TECTA gene encodes alpha-tectorin, a major non-collagenous glycoprotein component of the tectorial membrane in the cochlea. This extracellular matrix structure overlies the hair cells of the inner ear and is critical for mechanotransduction of sound vibrations. Mutations in TECTA cause both autosomal dominant (DFNA12) and autosomal recessive (DFNB21) nonsyndromic hearing loss, with varying degrees of severity and age of onset.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nonsyndromic hearing loss, autosomal dominant (DFNA12) | Missense mutations in the zona pellucida (ZP) domain disrupt tectorial membrane assembly, leading to dominant-negative or gain-of-function effects. | ClinVar, OMIM |
| Nonsyndromic hearing loss, autosomal recessive (DFNB21) | Loss-of-function mutations (nonsense, frameshift, splice-site) result in absence or severe truncation of alpha-tectorin, causing congenital or prelingual hearing loss. | ClinVar, OMIM |
| Nonsyndromic hearing loss, autosomal dominant (DFNA8/12) | Allelic disorder with DFNA12; some mutations cause postlingual progressive hearing loss with variable penetrance. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cochlea | Not available (nTPM) | High (RNA-seq from GTEx shows very low expression in most tissues; cochlea-specific) |
| Testis | 0.2 | Low |
| Thyroid | 0.1 | Low |
| Adrenal Gland | 0.1 | Low |
| Brain (Cerebellum) | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.0 | No endogenous expression |
| HeLa | 0.0 | No endogenous expression |
| K562 | 0.0 | No endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3170G>A (p.Cys1057Tyr) | Missense | Rare | Dominant; disrupts disulfide bond in ZP domain, causing DFNA12 |
| c.559C>T (p.Arg187*) | Nonsense | Rare | Loss-of-function; recessive DFNB21 |
| c.2085delC (p.Val696Trpfs*5) | Frameshift | Rare | Loss-of-function; recessive DFNB21 |
| c.5335G>A (p.Gly1779Arg) | Missense | Rare | Dominant; DFNA12 with progressive hearing loss |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations that lead to premature termination codons or absence of functional alpha-tectorin; cause autosomal recessive hearing loss (DFNB21).
Gain of Function (GOF)
Not clearly established; some dominant missense mutations may confer altered protein interactions rather than simple gain-of-function.
Dominant Negative (DN)
Missense mutations in the ZP domain (e.g., p.Cys1057Tyr) interfere with multimerization and tectorial membrane assembly, exerting a dominant-negative effect in DFNA12.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• Tectorial membrane assembly (inferred from literature)
Protein Summary
Alpha-tectorin (UniProt O75443) is a 2155-amino-acid glycoprotein secreted by supporting cells of the cochlea. It contains an N-terminal entactin-like domain, multiple von Willebrand factor type D (VWD) repeats, and a C-terminal zona pellucida (ZP) domain. The ZP domain mediates polymerization into the non-collagenous matrix of the tectorial membrane. Alpha-tectorin interacts with beta-tectorin (TECTB) and collagen fibers to form a gel-like structure essential for frequency tuning and hair cell stimulation. Post-translational modifications include N-glycosylation and disulfide bond formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TECTA Knockout HEK293 Cell Line | EDJ-KQ5912 | Human | 7007 | Details Get a Quote |
| TECTA Knockout HeLa Cell Line | EDJ-KQ54639 | Human | 7007 | Details Get a Quote |
| TECTA Knockout A-549 Cell Line | EDJ-KQ63120 | Human | 7007 | Details Get a Quote |
| TECTA Knockout HCT 116 Cell Line | EDJ-KQ71592 | Human | 7007 | Details Get a Quote |
