PJVK (Pejvakin) Gene
Encoding Pejvakin, a Protein Involved in Auditory Function and Associated with Deafness
Gene Information Card
| Symbol | PJVK |
|---|---|
| Full Name | pejvakin |
| Gene Type | protein-coding |
| Chromosomal Location | 2q31.2 |
| NCBI Gene ID | 494513 ncbi.nlm.nih.gov/gene/494513 |
| Ensembl ID | ENSG00000162949 |
| UniProt ID | Q96L91 |
| OMIM ID | 610219 |
| HGNC ID | 29222 |
| Aliases | DFNB59, Pejvakin |
Description
The PJVK gene (pejvakin) encodes a protein involved in auditory function, specifically in the hair cells of the inner ear. Mutations in this gene are associated with autosomal recessive nonsyndromic hearing loss (DFNB59), a form of auditory neuropathy. Pejvakin is thought to play a role in the development and maintenance of auditory pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive nonsyndromic hearing loss (DFNB59) | Loss-of-function mutations in PJVK disrupt pejvakin protein function, leading to auditory neuropathy and sensorineural hearing loss. | ClinVar, OMIM #610219 |
| Auditory neuropathy spectrum disorder | Mutations impair signal transmission from inner hair cells to auditory nerve, consistent with auditory neuropathy phenotype. | ClinVar, NCBI GeneReviews |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cochlea | Not available | High (RNA expression in inner ear) |
| Brain | Not available | Moderate (RNA expression in brain regions) |
| Testis | Not available | Low (RNA expression) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | Not available | Used in functional studies |
| Inner hair cell lines | Not available | Endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.547C>T (p.Arg183Trp) | Missense | Rare | Loss of function; associated with DFNB59 |
| c.988G>A (p.Gly330Arg) | Missense | Rare | Loss of function; associated with auditory neuropathy |
| c.125delG (p.Gly42ValfsTer19) | Frameshift | Rare | Loss of function; truncation of pejvakin |
Mutation functional classification
Loss of Function (LOF)
Most PJVK mutations are loss-of-function, leading to reduced or absent pejvakin protein, causing auditory neuropathy.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • sensory perception of sound (GO:0007605) | • response to stimulus (GO:0050896) |
| • cytoplasm (GO:0005737) | • protein binding (GO:0005515) |
Pathways
• Auditory neuropathy pathway
• Inner ear development and function
Protein Summary
Pejvakin is a 352-amino acid protein expressed in the inner ear, particularly in hair cells and spiral ganglion neurons. It is involved in auditory signal transduction and maintenance of auditory neurons. Mutations cause autosomal recessive deafness DFNB59.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PJVK Knockout HEK293 Cell Line | EDJ-KQ2149 | Human | 494513 | Details Get a Quote |
| PJVK Knockout A-549 Cell Line | EDJ-KQ22335 | Human | 494513 | Details Get a Quote |
| PJVK Knockout HCT 116 Cell Line | EDJ-KQ22336 | Human | 494513 | Details Get a Quote |
| PJVK Knockout HeLa Cell Line | EDJ-KQ22337 | Human | 494513 | Details Get a Quote |
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