GPR84

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

Basic information

Region (hg38): 12:54362445-54364487

Links

ENSG00000139572 ∙ NCBI:53831 ∙ OMIM:606383 ∙ HGNC:4535 ∙ Uniprot:Q9NQS5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GPR84 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR84 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			17			17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	0	0

Variants in GPR84

This is a list of pathogenic ClinVar variants found in the GPR84 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
12-54362807-G-A		not specified	Uncertain significance (Oct 20, 2021)
12-54362810-G-A		not specified	Uncertain significance (Apr 27, 2022)
12-54362842-A-G		not specified	Uncertain significance (Jan 29, 2024)
12-54362896-C-T		not specified	Likely benign (Sep 03, 2024)
12-54362906-T-C		not specified	Uncertain significance (Sep 04, 2024)
12-54362908-C-T		not specified	Uncertain significance (Mar 25, 2024)
12-54362938-C-G		not specified	Uncertain significance (Jun 29, 2023)
12-54362942-C-T		not specified	Uncertain significance (Nov 12, 2024)
12-54363091-A-G		not specified	Uncertain significance (Nov 19, 2022)
12-54363128-C-G		not specified	Uncertain significance (Jun 03, 2024)
12-54363143-G-A		not specified	Uncertain significance (Nov 06, 2023)
12-54363194-C-T		not specified	Uncertain significance (Dec 03, 2024)
12-54363199-C-T		not specified	Uncertain significance (Jul 14, 2024)
12-54363206-T-G		not specified	Uncertain significance (Mar 02, 2023)
12-54363229-G-A		not specified	Uncertain significance (Dec 18, 2023)
12-54363232-C-T		not specified	Uncertain significance (Jul 27, 2024)
12-54363244-C-T		not specified	Uncertain significance (May 18, 2023)
12-54363245-G-A		not specified	Uncertain significance (Sep 30, 2024)
12-54363284-C-G		not specified	Uncertain significance (Nov 30, 2022)
12-54363326-G-A		not specified	Uncertain significance (Feb 05, 2024)
12-54363338-G-A		not specified	Uncertain significance (Mar 31, 2024)
12-54363356-A-G		not specified	Uncertain significance (Feb 21, 2024)
12-54363362-C-T		not specified	Uncertain significance (Jan 26, 2022)
12-54363664-G-T		not specified	Uncertain significance (Jul 23, 2024)
12-54363668-G-A		not specified	Uncertain significance (Nov 10, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR84	protein_coding	protein_coding	ENST00000551809	1	2043

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.30e-9	0.0958	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.404	211	228	0.925	0.0000130	2546
Missense in Polyphen		61	72.641	0.83974		811
Synonymous	0.933	79	90.3	0.875	0.00000466	875
Loss of Function	-0.0188	13	12.9	1.01	9.81e-7	112

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

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}.
• Pathway: GPCRs, Other;Signaling by GPCR;Neutrophil degranulation;Signal Transduction;Innate Immune System;Immune System;G alpha (s) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.0863

Intolerance Scores

• loftool: 0.765
• rvis_EVS: 0.09
• rvis_percentile_EVS: 60.47

Haploinsufficiency Scores

• pHI: 0.0944
• hipred: N
• hipred_score: 0.197
• ghis: 0.456

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0759

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Gpr84
• Phenotype: hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;neuropeptide signaling pathway;biological_process;neutrophil degranulation
• Cellular component: plasma membrane;integral component of plasma membrane;specific granule membrane;receptor complex;tertiary granule membrane
• Molecular function: urotensin II receptor activity;G protein-coupled peptide receptor activity