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.

not_specified (49 variants)
not_provided (1 variants)
Prostate_cancer (1 variants)

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. These statistics are base on transcript: NM_000005683.4. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			47 clinvar	3 clinvar	1 clinvar	51
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	47	3	1

Loading clinvar variants...

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
essential_gene_gene_trap
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