GPR55

G protein-coupled receptor 55, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 2:230907318-230961066

Links

ENSG00000135898 ∙ NCBI:9290 ∙ OMIM:604107 ∙ HGNC:4511 ∙ Uniprot:Q9Y2T6 ∙ 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 GPR55 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR55 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	1	23
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	1	1

Variants in GPR55

This is a list of pathogenic ClinVar variants found in the GPR55 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-230910011-G-A		not specified	Uncertain significance (Aug 26, 2022)
2-230910019-G-A		not specified	Likely benign (Aug 26, 2024)
2-230910022-G-A		Malignant tumor of prostate	Uncertain significance (-)
2-230910026-C-G		not specified	Uncertain significance (Sep 30, 2024)
2-230910055-C-T		not specified	Uncertain significance (Mar 06, 2023)
2-230910128-C-T		not specified	Likely benign (Apr 12, 2022)
2-230910190-A-G		not specified	Uncertain significance (Sep 16, 2021)
2-230910202-T-C		not specified	Uncertain significance (Nov 21, 2022)
2-230910218-G-T		not specified	Uncertain significance (Dec 19, 2023)
2-230910220-A-T		not specified	Uncertain significance (Dec 10, 2024)
2-230910295-G-A		not specified	Uncertain significance (Nov 17, 2022)
2-230910295-G-C		not specified	Uncertain significance (Jan 24, 2023)
2-230910308-C-T		not specified	Uncertain significance (Jun 29, 2022)
2-230910328-C-T		not specified	Uncertain significance (Mar 16, 2022)
2-230910392-G-A		not specified	Uncertain significance (Oct 05, 2022)
2-230910427-G-A		not specified	Uncertain significance (Sep 10, 2024)
2-230910462-C-T		not specified	Uncertain significance (May 27, 2022)
2-230910500-G-A		not specified	Uncertain significance (Feb 13, 2024)
2-230910509-C-T		not specified	Uncertain significance (Jan 04, 2022)
2-230910574-C-A		not specified	Uncertain significance (Apr 22, 2022)
2-230910592-C-T		not specified	Uncertain significance (Jan 24, 2024)
2-230910616-C-T		not specified	Uncertain significance (Aug 04, 2021)
2-230910640-C-T		not specified	Uncertain significance (May 05, 2023)
2-230910644-C-T		not specified	Uncertain significance (Jul 27, 2024)
2-230910656-C-T			Benign (Jul 13, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR55	protein_coding	protein_coding	ENST00000392040	1	53749

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000285	0.343	125712	0	36	125748	0.000143

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.714	159	186	0.853	0.0000109	2131
Missense in Polyphen		41	53.942	0.76007		684
Synonymous	-0.619	87	80.0	1.09	0.00000479	635
Loss of Function	0.101	7	7.29	0.960	4.03e-7	73

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000293	0.000293
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000545	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000185	0.000185
Middle Eastern	0.0000545	0.0000544
South Asian	0.000131	0.000131
Other	0.000169	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in hyperalgesia associated with inflammatory and neuropathic pain (By similarity). Receptor for L- alpha-lysophosphatidylinositol (LPI). LPI induces Ca(2+) release from intracellular stores via the heterotrimeric G protein GNA13 and RHOA. Putative cannabinoid receptor. May play a role in bone physiology by regulating osteoclast number and function. {ECO:0000250, ECO:0000269|PubMed:19805329}.
• Pathway: GPCRs, Other;Signaling by GPCR;Signal Transduction;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling (Consensus)

Intolerance Scores

• loftool: 0.594
• rvis_EVS: 0
• rvis_percentile_EVS: 53.73

Haploinsufficiency Scores

• pHI: 0.163
• hipred: N
• hipred_score: 0.229
• ghis: 0.546

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.491

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr55
• Phenotype: immune system phenotype; homeostasis/metabolism phenotype; cellular phenotype; hematopoietic system phenotype; normal phenotype; skeleton phenotype

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;activation of phospholipase C activity;positive regulation of Rho protein signal transduction;cannabinoid signaling pathway;bone resorption;negative regulation of osteoclast differentiation;positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway;positive regulation of ERK1 and ERK2 cascade
• Cellular component: plasma membrane;integral component of plasma membrane
• Molecular function: G protein-coupled receptor activity;cannabinoid receptor activity