GPR22

G protein-coupled receptor 22, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 7:107470018-107475684

Links

ENSG00000172209 ∙ NCBI:2845 ∙ OMIM:601910 ∙ HGNC:4477 ∙ Uniprot:Q99680 ∙ 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 GPR22 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR22 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			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	0	0

Variants in GPR22

This is a list of pathogenic ClinVar variants found in the GPR22 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-107474106-A-G		not specified	Uncertain significance (Jun 16, 2024)
7-107474127-A-G		not specified	Uncertain significance (Apr 23, 2024)
7-107474128-T-C		not specified	Uncertain significance (Jan 21, 2025)
7-107474143-C-T		not specified	Uncertain significance (Jan 20, 2025)
7-107474163-T-A		not specified	Uncertain significance (Feb 24, 2025)
7-107474251-T-C		not specified	Uncertain significance (Feb 28, 2024)
7-107474330-A-G		not specified	Uncertain significance (Jun 11, 2021)
7-107474457-G-A		not specified	Uncertain significance (Mar 08, 2024)
7-107474529-G-C		not specified	Uncertain significance (Jan 24, 2025)
7-107474763-C-A		not specified	Uncertain significance (Sep 26, 2023)
7-107474868-G-A		not specified	Uncertain significance (Feb 05, 2024)
7-107474935-T-C		not specified	Uncertain significance (Jun 09, 2022)
7-107475022-C-T		not specified	Uncertain significance (Jan 16, 2025)
7-107475197-A-C		not specified	Uncertain significance (Dec 16, 2022)
7-107475226-T-C		not specified	Uncertain significance (Oct 29, 2024)
7-107475262-T-C		not specified	Uncertain significance (Mar 29, 2022)
7-107475314-T-C			Likely benign (Feb 01, 2025)
7-107475331-A-G		not specified	Uncertain significance (Feb 23, 2023)
7-107475355-C-A		not specified	Uncertain significance (Oct 12, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR22	protein_coding	protein_coding	ENST00000304402	1	5636

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0603	0.937	125601	0	10	125611	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.07	137	224	0.610	0.0000107	2838
Missense in Polyphen		31	90.104	0.34405		1162
Synonymous	0.0361	76	76.4	0.995	0.00000355	867
Loss of Function	2.59	5	16.3	0.307	0.00000140	163

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000582	0.0000582
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000547	0.0000544
Finnish	0.0000934	0.0000924
European (Non-Finnish)	0.0000273	0.0000264
Middle Eastern	0.0000547	0.0000544
South Asian	0.0000660	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan G-protein coupled receptor. Seems to act through a G(i)/G(o) mediated pathway (PubMed:18539757). May be involved in ciliogenesis (By similarity). {ECO:0000250|UniProtKB:A0A2R9YJI3, ECO:0000269|PubMed:18539757}.
• Pathway: GPCRs, Class A Rhodopsin-like (Consensus)

Recessive Scores

• pRec: 0.113

Intolerance Scores

• loftool: 0.321
• rvis_EVS: -0.36
• rvis_percentile_EVS: 28.63

Haploinsufficiency Scores

• pHI: 0.979
• hipred: Y
• hipred_score: 0.768
• ghis: 0.547

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.156

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr22
• Phenotype: normal phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype; growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan)

Zebrafish Information Network

• Gene name: gpr22a
• Affected structure: otolith
• Phenotype tag: abnormal
• Phenotype quality: fused with

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;cell projection organization
• Cellular component: plasma membrane;integral component of plasma membrane
• Molecular function: G protein-coupled receptor activity