GPR84

protein-coding

G protein-coupled receptor 84, the group of G protein-coupled receptors, Class A orphans

Gene summary

Predicted to enable urotensin II receptor activity. Predicted to be involved in neuropeptide signaling pathway. Part of signaling receptor complex. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_020370.3

Inheritance

—

ClinVar variants

U:42B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.01

Max pathogenic AF

—

Genomic locus

chr12:54,362,445-54,364,487

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~2.0 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 GPR84 variants in ClinVar

1 Conditions Cataloged
not specifiedTotal: 44

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_020370.3. 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
42
clinvar
2
clinvar
44
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total00422044
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 8 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_020370.3RefSeqNP_065103.11MANE Select
ENST00000267015.4EnsemblENSP00000267015.31MANE Select
ENST00000551809.1EnsemblENSP00000450310.11Standard
ENST00000879277.1EnsemblENSP00000549336.11Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • GPCRs, Other
  • Signaling by GPCR
  • Neutrophil degranulation
  • Signal Transduction
  • Innate Immune System

Biological Process

  • G protein-coupled receptor signaling pathway
  • neuropeptide signaling pathway
  • biological_process
  • neutrophil degranulation

Molecular Function

  • urotensin II receptor activity
  • G protein-coupled peptide receptor activity

Cellular Component

  • plasma membrane
  • integral component of plasma membrane
  • specific granule membrane
  • receptor complex
  • tertiary granule membrane

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000551809
Coding exons
1
Length
2043
Individuals with no LoFs
0
Homozygous LoFs
0
Heterozygous LoFs
0
Defined
0
p
0.00
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense0.4042112280.9250.00001302546
Missense (PolyPhen)6172.6410.83974811
Synonymous0.9337990.30.8750.00000466875
Loss of Function-0.01881312.91.019.81e-7112

Population LoF Frequency

PopulationCAFp-valueStatus
African00.0absent
Latino/Admixed American00.0absent
Ashkenazi Jewish00.0absent
East Asian00.0absent
Finnish00.0absent
European (Non-Finnish)00.0absent
South Asian00.0absent
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Receptor for medium-chain free fatty acid (FFA) with carbon chain lengths of C9 to C14. Capric acid (C10:0), undecanoic acid (C11:0) and lauric acid (C12:0) are the most potent agonists. Not activated by short-chain and long-chain saturated and unsaturated FFAs. Activation by medium-chain free fatty acid is coupled to a pertussis toxin sensitive G(i/o) protein pathway. May have important roles in processes from fatty acid metabolism to regulation of the immune system. {ECO:0000269|PubMed:16966319}.;

Recessive Scores

pRec
0.0863

Intolerance Scores

LoFtool
0.765
RVIS EVS
0.09
RVIS percentile EVS
60.47

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
N
Indispensability score
0.0759

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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