GPR52

G protein-coupled receptor 52, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 1:174447964-174449545

Links

ENSG00000203737 ∙ NCBI:9293 ∙ OMIM:604106 ∙ HGNC:4508 ∙ Uniprot:Q9Y2T5 ∙ 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 GPR52 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR52 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			21		1	22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	0	1

Variants in GPR52

This is a list of pathogenic ClinVar variants found in the GPR52 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-174448124-A-G		not specified	Uncertain significance (Mar 29, 2022)
1-174448125-G-A		not specified	Uncertain significance (Mar 19, 2024)
1-174448193-C-T		not specified	Uncertain significance (Mar 29, 2023)
1-174448247-G-A		not specified	Uncertain significance (Sep 08, 2024)
1-174448253-G-A		not specified	Uncertain significance (Oct 12, 2024)
1-174448344-A-G		not specified	Uncertain significance (Apr 01, 2024)
1-174448361-G-C		not specified	Uncertain significance (Feb 13, 2024)
1-174448425-C-T		not specified	Uncertain significance (Jun 01, 2023)
1-174448478-G-T		not specified	Uncertain significance (Dec 07, 2024)
1-174448479-T-C		not specified	Uncertain significance (Dec 09, 2023)
1-174448527-G-A		not specified	Uncertain significance (Dec 07, 2021)
1-174448585-G-C		not specified	Uncertain significance (Jul 11, 2023)
1-174448620-G-C		not specified	Uncertain significance (Dec 18, 2023)
1-174448812-C-T		not specified	Uncertain significance (May 18, 2023)
1-174448884-G-A		not specified	Uncertain significance (Dec 01, 2023)
1-174448884-G-T		not specified	Uncertain significance (Mar 03, 2025)
1-174448892-C-T		not specified	Uncertain significance (Apr 07, 2022)
1-174448901-G-A		not specified	Uncertain significance (Dec 15, 2024)
1-174449001-C-G		not specified	Uncertain significance (May 21, 2024)
1-174449084-C-T		not specified	Uncertain significance (Sep 30, 2024)
1-174449112-C-A		not specified	Uncertain significance (Jan 19, 2024)
1-174449123-T-A		not specified	Uncertain significance (Dec 25, 2024)
1-174449174-C-T			Benign (Dec 31, 2019)
1-174449192-A-G		not specified	Uncertain significance (Aug 05, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR52	protein_coding	protein_coding	ENST00000367685	1	1472

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00954	0.945	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.780	168	199	0.844	0.0000112	2373
Missense in Polyphen		61	87.132	0.70008		1107
Synonymous	0.755	63	71.1	0.886	0.00000385	728
Loss of Function	1.74	5	11.3	0.442	7.57e-7	128

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: Gs-coupled receptor activated by antipsychotics reserpine leading to an increase in intracellular cAMP and its internalization (PubMed:24587241). May play a role in locomotor activity through modulation of dopamine, NMDA and ADORA2A-induced locomotor activity. These behavioral changes are accompanied by modulation of the dopamine receptor signaling pathway in striatum (PubMed:24587241). Modulates HTT level via cAMP-dependent but PKA independent mechanisms throught activation of RAB39B that translocates HTT to the endoplasmic reticulum, thus avoiding proteasome degradation (PubMed:25738228). {ECO:0000269|PubMed:24587241, ECO:0000269|PubMed:25738228}.
• Pathway: GPCRs, Class A Rhodopsin-like (Consensus)

Intolerance Scores

• loftool: 0.658
• rvis_EVS: -0.3
• rvis_percentile_EVS: 32.62

Haploinsufficiency Scores

• pHI: 0.423
• hipred: N
• hipred_score: 0.310
• ghis: 0.521

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.185

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr52
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;phototransduction;locomotory behavior;detection of visible light;response to drug;cellular response to light stimulus
• Cellular component: integral component of plasma membrane
• Molecular function: G protein-coupled receptor activity;G protein-coupled photoreceptor activity