GPR62

protein-coding

G protein-coupled receptor 62, the group of G protein-coupled receptors, Class A orphans

Gene summary

Enables arrestin family protein binding activity. Involved in ligand-independent adenylate cyclase-activating G protein-coupled receptor signaling pathway and positive regulation of calcium-mediated signaling. Located in endosome and plasma membrane. Part of signaling receptor complex. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_080865.4

Inheritance

—

ClinVar variants

U:49B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.28

Max pathogenic AF

—

Genomic locus

chr3:51,955,381-51,957,499

External References & Databases

Ensembl (ENSG00000180929)

Transcript & Mutation Effects

hg38 • Region Span ~2.1 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 GPR62 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 50

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_080865.4. 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						0
missense			49 clinvar	1 clinvar		50
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	49	1	0	50

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_080865.4	RefSeq	NP_543141.3	1	MANE Select
ENST00000322241.6	Ensembl	ENSP00000319250.4	1	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

GPCRs, Other

Biological Process

G protein-coupled receptor signaling pathway
positive regulation of cAMP-mediated signaling
inositol phosphate-mediated signaling

Molecular Function

G protein-coupled receptor activity
protein binding
identical protein binding
arrestin family protein binding

Cellular Component

endosome
plasma membrane
endosome membrane
integral component of membrane
receptor complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000322241
Coding exons: 1
Length: 2180
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.52	96	148	0.648	0.00000721	2095
Missense (PolyPhen)		38	66.732	0.56945		1098
Synonymous	1.21	64	77.6	0.825	0.00000395	941
Loss of Function	1.25	1	3.55	0.282	1.56e-7	47

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
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	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Orphan G-protein coupled receptor. Constitutively activates the G(q/11)/inositol phosphate and the G(s)-alpha/cAMP signaling pathways (PubMed:28827538). Has spontaneous activity for beta-arrestin recruitment (PubMed:28827538). Shows a reciprocal modulation of signaling functions with the melatonin receptor MTNR1B most likely through receptor heteromerization (PubMed:28827538). {ECO:0000269|PubMed:28827538}.;

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0911

Gene Damage Prediction

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