GPR156: G Protein-Coupled Receptor 156
Orphan GPCR Involved in Auditory and Vestibular Function
Gene Information Card
| Symbol | GPR156 |
|---|---|
| Full Name | G protein-coupled receptor 156 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q13.33 |
| NCBI Gene ID | 165829 ncbi.nlm.nih.gov/gene/165829 |
| Ensembl ID | ENSG00000175697 |
| UniProt ID | Q8NFN8 |
| OMIM ID | 618531 |
| HGNC ID | 23684 |
| Aliases | GABABL, GPR156, MGC138499 |
Description
GPR156 encodes an orphan G protein-coupled receptor (GPCR) that is highly expressed in the brain and inner ear. It is involved in auditory and vestibular function, and mutations in this gene are associated with autosomal recessive nonsyndromic hearing loss. The receptor is thought to signal through G proteins, though its endogenous ligand remains unknown.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive nonsyndromic hearing loss (DFNB66) | Loss-of-function mutations in GPR156 disrupt hair cell function in the cochlea, leading to sensorineural hearing loss. | ClinVar, OMIM |
| Vestibular dysfunction | GPR156 knockout mice exhibit balance deficits; human mutations may contribute to vestibular impairment. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Inner ear (cochlea) | 8.2 | Medium |
| Testis | 3.1 | Low |
| Kidney | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 6.8 | Neuronal expression |
| HEK293 (embryonic kidney) | 2.3 | Low expression |
| Hair cell-like cell lines | 9.1 | Inner ear model |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338*) | Nonsense | Rare | Loss of function; truncation of receptor |
| c.1543G>A (p.Gly515Arg) | Missense | Rare | Likely loss of function; impaired protein folding |
| c.2005delC | Frameshift | Rare | Loss of function; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense mutations that reduce or abolish receptor expression or signaling.
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)
| • G protein-coupled receptor signaling pathway | • plasma membrane |
| • signal transduction | • sensory perception of sound |
| • vestibular receptor cell development |
Pathways
• GPCR signaling (orphan receptor)
• cAMP signaling pathway (predicted)
Protein Summary
GPR156 is a 7-transmembrane domain orphan GPCR of 1018 amino acids. It shares homology with GABA-B receptors but does not bind GABA. The protein is localized to the plasma membrane and is essential for normal hair cell function in the inner ear. Its C-terminal domain contains potential phosphorylation sites for receptor regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GPR156 Knockout HEK293 Cell Line | EDJ-KQ13668 | Human | 165829 | Details Get a Quote |
| GPR156 Knockout HeLa Cell Line | EDJ-KQ43362 | Human | 165829 | Details Get a Quote |
| GPR156 Knockout A-549 Cell Line | EDJ-KQ67382 | Human | 165829 | Details Get a Quote |
| GPR156 Knockout HCT 116 Cell Line | EDJ-KQ75774 | Human | 165829 | Details Get a Quote |