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.

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 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
Contact Us
*
*
*
How did you hear about us: