OTOGL: Otogelin-Like Gene in Hearing and Vestibular Function
Comprehensive genomic and proteomic overview of OTOGL, associated with autosomal recessive hearing loss.
Gene Information Card
| Symbol | OTOGL |
|---|---|
| Full Name | otogelin-like |
| Gene Type | protein-coding |
| Chromosomal Location | 12q21.31 |
| NCBI Gene ID | 283310 ncbi.nlm.nih.gov/gene/283310 |
| Ensembl ID | ENSG00000165895 |
| UniProt ID | Q6ZRI0 |
| OMIM ID | 614925 |
| HGNC ID | 34788 |
| Aliases | DFNB84B, MGC138290, MGC138292 |
Description
OTOGL (otogelin-like) is a protein-coding gene located on chromosome 12q21.31. It encodes a secreted glycoprotein that is a component of the acellular membranes of the inner ear, including the tectorial membrane. OTOGL is essential for normal hearing and vestibular function. Mutations in OTOGL cause autosomal recessive nonsyndromic hearing loss (DFNB84B). The protein contains multiple von Willebrand factor type D domains and is structurally related to otogelin (OTOG).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive nonsyndromic hearing loss (DFNB84B) | Loss-of-function mutations in OTOGL disrupt tectorial membrane integrity, impairing mechanotransduction in cochlear hair cells. | ClinVar, OMIM (614925) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cochlea | Not available in GTEx | High (RNA-seq from inner ear) |
| Testis | 0.3 | Low |
| Thyroid | 0.2 | Low |
| Esophagus | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | Not detected | No endogenous expression |
| Inner ear hair cell lines | Not available | Expected expression based on tissue data |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2074C>T (p.Arg692*) | Nonsense | Rare | Loss of function; associated with DFNB84B |
| c.3343C>T (p.Arg1115*) | Nonsense | Rare | Loss of function; associated with DFNB84B |
| c.4966C>T (p.Arg1656*) | Nonsense | Rare | Loss of function; associated with DFNB84B |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature stop codons are the primary mechanism, resulting in truncated or absent protein and disrupted tectorial membrane structure.
Gain of Function (GOF)
No evidence of gain-of-function mutations for OTOGL.
Dominant Negative (DN)
No evidence of dominant-negative effects; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Inner ear morphogenesis (Reactome: R-HSA-9660825)
• Extracellular matrix organization (Reactome: R-HSA-1474244)
Protein Summary
Otogelin-like (OTOGL) is a secreted glycoprotein of approximately 230 kDa, containing multiple von Willebrand factor type D (VWD) domains and a C-terminal cysteine knot domain. It is a component of the tectorial membrane in the inner ear, where it interacts with other extracellular matrix proteins to maintain the structural integrity required for mechanotransduction. OTOGL is essential for normal hearing and balance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OTOGL Knockout HEK293 Cell Line | EDJ-KQ14641 | Human | 283310 | Details Get a Quote |
| OTOGL Knockout HeLa Cell Line | EDJ-KQ59388 | Human | 283310 | Details Get a Quote |
| OTOGL Knockout A-549 Cell Line | EDJ-KQ67853 | Human | 283310 | Details Get a Quote |
| OTOGL Knockout HCT 116 Cell Line | EDJ-KQ76236 | Human | 283310 | Details Get a Quote |
