GIPC3: A Key Regulator in Hearing and Vision
Comprehensive genomic and functional analysis of GIPC3, associated with sensorineural hearing loss and retinal degeneration.
Gene Information Card
| Symbol | GIPC3 |
|---|---|
| Full Name | GIPC PDZ domain containing family member 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 126326 ncbi.nlm.nih.gov/gene/126326 |
| Ensembl ID | ENSG00000179855 |
| UniProt ID | Q8TF64 |
| OMIM ID | 608792 |
| HGNC ID | 18185 |
| Aliases | DFNB15, DFNB72, GIPC3, PDZ domain protein GIPC3 |
Description
GIPC3 encodes a PDZ domain-containing protein involved in intracellular trafficking and signaling. It is essential for the maintenance of sensory hair cells in the inner ear and photoreceptor cells in the retina. Mutations in GIPC3 cause autosomal recessive nonsyndromic hearing loss (DFNB15/DFNB72) and are associated with retinal degeneration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive nonsyndromic hearing loss (DFNB15/DFNB72) | Loss-of-function mutations disrupt PDZ-mediated protein interactions in cochlear hair cells, leading to progressive sensorineural hearing loss. | ClinVar, OMIM |
| Retinal degeneration | GIPC3 variants impair trafficking of proteins essential for photoreceptor survival, causing progressive vision loss. | UniProt, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cochlea | 12.5 | High |
| Retina | 15.3 | High |
| Brain | 3.2 | Low |
| Kidney | 1.8 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.7 | Moderate expression |
| HeLa | 4.2 | Low expression |
| SH-SY5Y | 6.1 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.265C>T (p.Arg89Ter) | Nonsense | Rare | Loss of function; truncation of PDZ domain |
| c.112G>A (p.Gly38Arg) | Missense | Rare | Impaired protein stability and interaction |
| c.454_455del (p.Leu152ValfsTer5) | Frameshift | Rare | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Most reported GIPC3 mutations are loss-of-function, leading to haploinsufficiency or complete loss of protein function in sensory cells.
Gain of Function (GOF)
No gain-of-function mutations have been reported for GIPC3.
Dominant Negative (DN)
No dominant-negative effects have been described for GIPC3 mutations.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cell differentiation (GO:0030154) |
| • sensory perception of sound (GO:0007605) | • visual perception (GO:0007601) |
| • plasma membrane (GO:0005886) |
Pathways
• PDZ domain-mediated protein trafficking
• Inner ear development and function
• Photoreceptor cell maintenance
Protein Summary
GIPC3 is a 333-amino acid protein containing a single PDZ domain. It localizes to the plasma membrane and interacts with various transmembrane proteins, facilitating their trafficking and signaling. In the inner ear, it is critical for hair cell survival; in the retina, it supports photoreceptor integrity. Loss of GIPC3 function leads to progressive hearing loss and retinal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GIPC3 Knockout HEK293 Cell Line | EDJ-KQ8122 | Human | 126326 | Details Get a Quote |
| GIPC3 Knockout HeLa Cell Line | EDJ-KQ35239 | Human | 126326 | Details Get a Quote |
| GIPC3 Knockout A-549 Cell Line | EDJ-KQ66661 | Human | 126326 | Details Get a Quote |
| GIPC3 Knockout HCT 116 Cell Line | EDJ-KQ75079 | Human | 126326 | Details Get a Quote |
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