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

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 7.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
ENST00000304402.6	ENSP00000302676.4	1	yes	-
ENST00000890166.1	ENSP00000560225.1	1	-	-
ENST00000960458.1	ENSP00000630517.1	1	-	-
ENST00000960459.1	ENSP00000630518.1	1	-	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GPR22 gene.

• not_specified (28 variants)
• not_provided (1 variants)

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. These statistics are base on transcript: NM_000005295.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			28			28
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	28	1	0

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
		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

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

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