GPR20

protein-coding

G protein-coupled receptor 20, the group of G protein-coupled receptors, Class A orphans

Gene summary

Enables 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_005293.3

Inheritance

—

ClinVar variants

U:89B:10

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.18

Max pathogenic AF

—

Genomic locus

chr8:141,356,470-141,367,286

External References & Databases

Ensembl (ENSG00000204882)

Transcript & Mutation Effects

hg38 • Region Span ~10.8 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 GPR20 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 94

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_005293.3. 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.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				3 clinvar	1 clinvar	4
missense			89 clinvar	6 clinvar		95
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	89	9	1	99

Loading ClinVar variants...

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_005293.3	RefSeq	NP_005284.2	1	MANE Select
ENST00000377741.4	Ensembl	ENSP00000366970.3	1	MANE Select
ENST00000887272.1	Ensembl	ENSP00000557331.1	1	Standard
ENST00000887273.1	Ensembl	ENSP00000557332.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

GPCRs, Class A Rhodopsin-like
Signaling by GPCR
Signal Transduction
G alpha (s) signalling events
GPCR downstream signalling

Biological Process

G protein-coupled receptor signaling pathway
positive regulation of Rho protein signal transduction
positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway

Molecular Function

G protein-coupled receptor activity

Cellular Component

plasma membrane
integral component of plasma membrane
receptor complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000377741
Coding exons: 1
Length: 10768
Individuals with no LoFs: 124875
Homozygous LoFs: 0
Heterozygous LoFs: 7
Defined: 124882
p: 0.0000280

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.750	226	260	0.869	0.0000193	2235
Missense (PolyPhen)		67	99.072	0.67628		929
Synonymous	0.227	123	126	0.974	0.0000101	838
Loss of Function	1.77	1	5.46	0.183	2.35e-7	54

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0.00060	0.00060	rare
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Orphan receptor with constitutive G(i) signaling activity that activate cyclic AMP. {ECO:0000269|PubMed:18347022}.;

Recessive Scores

pRec: 0.109

Intolerance Scores

LoFtool: 0.219
RVIS EVS: -0.31
RVIS percentile EVS: 32.15

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.229

Gene Damage Prediction

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