TECTB Gene - Beta-Tectorin
Essential Component of the Tectorial Membrane in the Inner Ear
Gene Information Card
| Symbol | TECTB |
|---|---|
| Full Name | Tectorin Beta |
| Gene Type | Protein coding |
| Chromosomal Location | 10q25.2 |
| NCBI Gene ID | 7007 ncbi.nlm.nih.gov/gene/7007 |
| Ensembl ID | ENSG00000119950 |
| UniProt ID | Q96PL2 |
| OMIM ID | 602697 |
| HGNC ID | 11720 |
| Aliases | DKFZp686M0520, MGC138206 |
Description
The TECTB gene encodes beta-tectorin, a major non-collagenous glycoprotein component of the tectorial membrane in the inner ear. The tectorial membrane is an extracellular matrix structure that overlies the hair cells of the cochlea and is essential for normal hearing. Beta-tectorin interacts with alpha-tectorin (TECTA) and other matrix proteins to form the striated-sheet matrix of the tectorial membrane. Mutations in TECTB are associated with both autosomal dominant and autosomal recessive forms of nonsyndromic hearing loss.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal dominant nonsyndromic hearing loss (DFNA12) | Missense mutations in TECTB disrupt the structural integrity of the tectorial membrane, altering its mechanical properties and impairing sound transduction. | ClinVar, OMIM |
| Autosomal recessive nonsyndromic hearing loss (DFNB21) | Loss-of-function mutations in TECTB prevent normal assembly of the tectorial membrane, leading to sensorineural hearing loss. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cochlea | Not available (tissue-specific) | High |
| Testis | 0.3 | Low |
| Thyroid | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.0 | No detectable expression |
| K562 | 0.0 | No detectable expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.103C>T (p.Arg35Cys) | Missense | Rare | Dominant; alters protein folding and tectorial membrane structure |
| c.586C>T (p.Arg196*) | Nonsense | Rare | Recessive; leads to premature truncation and loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg196*) cause complete loss of beta-tectorin, leading to recessive hearing loss (DFNB21).
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg35Cys) act in a dominant-negative manner, disrupting the assembly of the tectorial membrane and causing dominant hearing loss (DFNA12).
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • extracellular matrix (GO:0031012) |
| • sensory perception of sound (GO:0007605) | • tectorial membrane assembly (GO:0003344) |
Pathways
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• Tectorial membrane assembly (Reactome: R-HSA-9662360)
Protein Summary
Beta-tectorin is a 328-amino acid glycoprotein that localizes to the tectorial membrane of the cochlea. It contains a zona pellucida (ZP) domain and a von Willebrand factor type D (VWD) domain, which mediate protein-protein interactions essential for matrix assembly. Beta-tectorin forms homodimers and heterodimers with alpha-tectorin, contributing to the striated-sheet matrix that provides mechanical coupling between the tectorial membrane and hair cell stereocilia. Defects in this protein lead to hearing loss by disrupting the normal vibratory response of the tectorial membrane.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TECTB Knockout HEK293 Cell Line | EDJ-KQ5910 | Human | 6975 | Details Get a Quote |
| TECTB Knockout HeLa Cell Line | EDJ-KQ54631 | Human | 6975 | Details Get a Quote |
| TECTB Knockout A-549 Cell Line | EDJ-KQ63113 | Human | 6975 | Details Get a Quote |
| TECTB Knockout HCT 116 Cell Line | EDJ-KQ71584 | Human | 6975 | Details Get a Quote |
