GPR88

G protein-coupled receptor 88, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 1:100538139-100542021

Links

ENSG00000181656 ∙ NCBI:54112 ∙ OMIM:607468 ∙ HGNC:4539 ∙ Uniprot:Q9GZN0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• chorea, childhood-onset, with psychomotor retardation (Limited), mode of inheritance: AR
• chorea, childhood-onset, with psychomotor retardation (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Chorea, childhood-onset, with psychomotor retardation	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Neurologic	27123486

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GPR88 gene.

• not_provided (67 variants)
• not_specified (29 variants)
• Chorea,_childhood-onset,_with_psychomotor_retardation (1 variants)
• GPR88-related_disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR88 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000022049.3. 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				34	2	36
missense			51			51
nonsense	1					1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	1	0	51	34	2

Highest pathogenic variant AF is 0.00000284515

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR88	protein_coding	protein_coding	ENST00000315033	1	3882

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.755	0.243	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.03	65	179	0.363	0.00000823	2284
Missense in Polyphen		17	52.367	0.32463		596
Synonymous	-0.371	99	94.4	1.05	0.00000456	933
Loss of Function	2.47	1	8.99	0.111	3.94e-7	83

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: Probable G-protein coupled receptor implicated in a large repertoire of behavioral responses that engage motor activities, spatial learning, and emotional processing. May play a role in the regulation of cognitive and motor function. {ECO:0000250|UniProtKB:Q9EPB7, ECO:0000250|UniProtKB:Q9ESP4}.
• Pathway: GPCRs, Other (Consensus)

Recessive Scores

• pRec: 0.111

Haploinsufficiency Scores

• pHI: 0.850
• hipred: N
• hipred_score: 0.464
• ghis: 0.401

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.307

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr88
• Phenotype: no phenotypic analysis (no description of morphological, physiological or behavioral information presented); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs 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)

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;phototransduction;locomotory behavior;detection of visible light;neuronal action potential;neuromuscular process controlling balance;motor learning;cellular response to light stimulus
• Cellular component: cellular_component;nucleus;cytoplasm;plasma membrane;integral component of plasma membrane
• Molecular function: motor activity;G protein-coupled photoreceptor activity