GPR160

protein-coding

G protein-coupled receptor 160, the group of G protein-coupled receptors, Class A orphans

Gene summary

Predicted to enable G protein-coupled receptor activity. Predicted to be involved in G protein-coupled receptor signaling pathway. Located in plasma membrane. Part of signaling receptor complex. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_014373.3

Inheritance

—

ClinVar variants

U:35B:3

Top phenotype

GPR160-related disorder

gnomAD constraint

pLI —, LoF o/e 0.64

Max pathogenic AF

—

Genomic locus

chr3:170,037,995-170,085,392

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~47.4 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to GPR160 variants in ClinVar

2 Conditions Cataloged
not specifiedTotal: 37
GPR160-related disorderTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014373.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
0
missense
35
clinvar
2
clinvar
1
clinvar
38
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total00352138
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 103 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_014373.3RefSeqNP_055188.11MANE Select
ENST00000355897.10EnsemblENSP00000348161.51MANE Select
ENST00000473675.1EnsemblENSP00000420751.11Standard
ENST00000482710.1EnsemblENSP00000419400.11Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

  • G protein-coupled receptor signaling pathway

Molecular Function

  • G protein-coupled receptor activity

Cellular Component

  • plasma membrane
  • integral component of membrane
  • receptor complex

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000355897
Coding exons
1
Length
47475
Individuals with no LoFs
125507
Homozygous LoFs
0
Heterozygous LoFs
164
Defined
125671
p
0.000653
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense0.2111541620.9530.000007212221
Missense (PolyPhen)3737.6830.98187579
Synonymous0.6345157.10.8930.00000252631
Loss of Function1.0269.360.6413.89e-7142

Population LoF Frequency

PopulationCAFp-valueStatus
African0.000250.00025rare
Latino/Admixed American0.000620.00061rare
Ashkenazi Jewish00.0absent
East Asian0.000270.00027rare
Finnish0.0000930.000092rare
European (Non-Finnish)0.000380.00038rare
South Asian0.00310.0028notable
Other0.000500.00049rare

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Orphan receptor.;

Recessive Scores

pRec
0.0827

Intolerance Scores

LoFtool
0.574
RVIS EVS
0.37
RVIS percentile EVS
75.12

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
N
Indispensability score
0.366

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.