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GeneE
9 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GPR156
G protein-coupled receptor 156
Chromosome 3 Β· 3q13.33
NCBI Gene: 165829Ensembl: ENSG00000175697.12HGNC: HGNC:20844UniProt: Q8NFN8
11PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Receptor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
plasma membraneprotein bindingG protein-coupled receptor heterodimeric complexG protein-coupled GABA receptor activityhearing loss, autosomal recessive 121sensorineural hearing lossSensorineural hearing impairmentdeafness
✦AI Summary

GPR156 is a class C orphan G protein-coupled receptor essential for auditory and vestibular function. Its primary role is regulating hair cell orientation in the inner ear by triggering a 180-degree reversal in stereociliary bundle orientation, creating a line of polarity reversal (LPR) across sensory organs 1. Mechanistically, GPR156 exhibits constitutive activity through a unique mechanism lacking a large extracellular domain 2. High constitutive activity is maintained through homodimeric TM5/6-TM5/6 interface formation, with endogenous phospholipid molecules within transmembrane domains serving as transducers for sustained G protein (Gi/o) signaling 32. In hair cells expressing EMX2, GPR156 is apically enriched at cell junctions and reverses core planar cell polarity interpretation 1. Loss-of-function variants in GPR156 cause autosomal recessive congenital hearing impairment and non-syndromic moderate sensorineural hearing loss 45. Conditional hair cell-specific GPR156 inactivation recapitulates cochlear and utricular misorientation with auditory and vestibular dysfunction, demonstrating that sensory deficits primarily result from impaired hair cell orientation 1. Additionally, a rare missense variant (c.1599G>T, p.Glu533Asp) in GPR156 is associated with increased major depressive disorder risk in founder populations, implicating GPR156 in mood regulation through medial habenula function 6.

Sources cited
1
GPR156 maintains high constitutive activity through dimerization and Gi2/3 coupling, with structural basis involving TM5/6 interface and C-terminus dual role in G protein binding
PMID: 39638804
2
Loss-of-function variants in GPR156 cause recessive congenital hearing impairment, confirmed through genetic association analysis
PMID: 36928819
3
GPR156 is an orphan class C GPCR demonstrating constitutive Gi/o coupling detectable through sensitive luciferase reporter assays
PMID: 33784795
4
GPR156 lacks a large extracellular domain and contains endogenous phospholipid molecules in transmembrane domains that serve as transducers for constitutive activation
PMID: 38332368
5
Rare missense variant in GPR156 (c.1599G>T) associated with two-fold increased risk of major depressive disorder through medial habenula dysfunction
PMID: 40228124
6
Novel GPR156 variants (c.600G>A splicing disruption and c.1863dupG frameshift) cause moderate non-syndromic sensorineural hearing loss in autosomal recessive inheritance
PMID: 37814107
7
GPR156 is required in sensory hair cells for proper auditory and vestibular function by reversing hair cell orientation through Gi protein signaling; conditional hair cell deletion causes misorientation and sensory deficits
PMID: 41547998
Disease Associationsβ“˜21
hearing loss, autosomal recessive 121Open Targets
0.46Moderate
Sensorineural hearing impairmentOpen Targets
0.37Weak
sensorineural hearing lossOpen Targets
0.37Weak
deafnessOpen Targets
0.32Weak
hearing loss, autosomal recessiveOpen Targets
0.32Weak
Graves diseaseOpen Targets
0.25Weak
pyogenic granulomaOpen Targets
0.06Suggestive
Benign familial choreaOpen Targets
0.05Suggestive
Hearing impairmentOpen Targets
0.01Suggestive
COVID-19Open Targets
0.01Suggestive
Crohn's diseaseOpen Targets
0.01Suggestive
depressive disorderOpen Targets
0.01Suggestive
hearing lossOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
gliomaOpen Targets
0.01Suggestive
adult T-cell leukemia/lymphomaOpen Targets
0.01Suggestive
asthmaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
nodular sclerosis Hodgkin lymphomaOpen Targets
0.00Suggestive
esophageal squamous cell carcinomaOpen Targets
0.00Suggestive
Deafness, autosomal recessive, 121UniProt
Pathogenic Variants5
NM_153002.3(GPR156):c.474+1delLikely pathogenic
Hearing loss, autosomal recessive 121
β˜…β˜†β˜†β˜†2026
NM_153002.3(GPR156):c.696+1G>TLikely pathogenic
Hearing loss, autosomal recessive 121
β˜…β˜†β˜†β˜†2025
NM_153002.3(GPR156):c.1924del (p.Ser642fs)Likely pathogenic
Hearing loss, autosomal recessive 121
β˜…β˜†β˜†β˜†2024β†’ Residue 642
NM_153002.3(GPR156):c.1863dup (p.His622fs)Pathogenic
Hearing loss, autosomal recessive|Hearing loss, autosomal recessive 121
β˜†β˜†β˜†β˜†2023β†’ Residue 622
NM_153002.3(GPR156):c.600G>A (p.Thr200=)Pathogenic
Hearing loss, autosomal recessive|Hearing loss, autosomal recessive 121
β˜†β˜†β˜†β˜†2023β†’ Residue 200
View on ClinVar β†—
Related Genes
GABBR1Protein interaction93%GABBR2Protein interaction65%SHISA7Shared pathway25%GABRR3Shared pathway17%GABRQShared pathway17%GABRG1Shared pathway14%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
32%
Brain
25%
Lung
11%
Heart
10%
Liver
3%
Gene Interaction Network
Click a node to explore
GPR156GABBR1GABBR2SHISA7GABRR3GABRQGABRG1
PROTEIN STRUCTURE
Preparing viewer…
PDB8YK0 Β· 2.40 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.96LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.72 [0.55–0.96]
RankingsWhere GPR156 stands among ~20K protein-coding genes
  • #16,773of 20,598
    Most Researched11
  • #3,650of 5,498
    Most Pathogenic Variants5
  • #9,071of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedGPR156
Sources retrieved9 papers
Response timeβ€”
πŸ“„ Sources
9β–Ό
1
Molecular insights into the activation mechanism of GPR156 in maintaining auditory function.
PMID: 39638804
Nat Commun Β· 2024
1.00
2
Genetic association analysis of 77,539 genomes reveals rare disease etiologies.
PMID: 36928819
Nat Med Β· 2023
0.89
3
In vitro profiling of orphan G protein coupled receptor (GPCR) constitutive activity.
PMID: 33784795
Br J Pharmacol Β· 2021
0.78
4
Constitutive activation mechanism of a class C GPCR.
PMID: 38332368
Nat Struct Mol Biol Β· 2024
0.67
5
A rare variant in
PMID: 40228124
Proc Natl Acad Sci U S A Β· 2025
0.56