GPR83

protein-coding

G protein-coupled receptor 83, the group of G protein-coupled receptors, Class A orphans

Gene summary

Predicted to enable neuropeptide receptor activity. Predicted to be involved in neuropeptide signaling pathway and phospholipase C-activating G protein-coupled receptor signaling pathway. Predicted to act upstream of or within response to glucocorticoid. Located in cilium. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

GPR72

MANE transcript

NM_016540.4

Inheritance

—

ClinVar variants

U:84B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.75

Max pathogenic AF

—

Genomic locus

chr11:94,377,316-94,401,419

External References & Databases

Ensembl (ENSG00000123901)

Transcript & Mutation Effects

hg38 • Region Span ~24.1 kb

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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 GPR83 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 84

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_016540.4. 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.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			84 clinvar		1 clinvar	85
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	84	1	1	86

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_016540.4	RefSeq	NP_057624.3	4	MANE Select
ENST00000243673.7	Ensembl	ENSP00000243673.2	4	MANE Select
NM_001330345.2	RefSeq	NP_001317274.1	3	Standard
ENST00000539203.2	Ensembl	ENSP00000441550.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Neuroactive ligand-receptor interaction - Homo sapiens (human)
GPCRs, Other
GPCRs, Class A Rhodopsin-like
Signaling by GPCR
Signal Transduction

Biological Process

G protein-coupled receptor signaling pathway
neuropeptide signaling pathway
response to glucocorticoid

Molecular Function

G protein-coupled receptor activity
neuropeptide Y receptor activity

Cellular Component

plasma membrane
integral component of membrane
non-motile cilium

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000243673
Coding exons: 4
Length: 24109
Individuals with no LoFs: 125704
Homozygous LoFs: 0
Heterozygous LoFs: 44
Defined: 125748
p: 0.000175

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.556	272	247	1.10	0.0000131	2766
Missense (PolyPhen)		99	96.115	1.03		1103
Synonymous	-1.13	118	103	1.14	0.00000550	866
Loss of Function	0.895	11	14.7	0.748	6.67e-7	161

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00025	0.00025	rare
Latino/Admixed American	0.00020	0.00020	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00049	0.00049	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00014	0.00014	rare
South Asian	0.00016	0.00016	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Orphan receptor. Could be a neuropeptide Y receptor.;

Recessive Scores

pRec: 0.251

Intolerance Scores

LoFtool: 0.525
RVIS EVS: -0.27
RVIS percentile EVS: 34.82

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.132

Gene Damage Prediction

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