GPR88 (G protein-coupled receptor 88)

Gene

• Entrez ID: 54112
• Gene name: G protein-coupled receptor 88
• Gene symbol: GPR88
• Synonyms (NCBI Gene): COCPMR, STRG
• Chromosome: 1
• Chromosome location: 1p21.2
• Summary: The protein encoded by this gene is a G protein-coupled receptor found almost exclusively in the striatum, a brain structure that controls motor function and cognition. Defects in this gene have been associated with chorea, speech delay, and learning diff

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs875989788	C>A	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1031972	hsa-miR-1207-3p	CLIP-seq
MIRT1031973	hsa-miR-1276	CLIP-seq
MIRT1031974	hsa-miR-140-3p	CLIP-seq
MIRT1031975	hsa-miR-3119	CLIP-seq
MIRT1031976	hsa-miR-3121-3p	CLIP-seq
MIRT1031977	hsa-miR-3168	CLIP-seq
MIRT1031978	hsa-miR-34b	CLIP-seq
MIRT1031979	hsa-miR-4663	CLIP-seq
MIRT1031980	hsa-miR-577	CLIP-seq
MIRT1031981	hsa-miR-628-5p	CLIP-seq
MIRT1549371	hsa-miR-1248	CLIP-seq
MIRT1549372	hsa-miR-3121-5p	CLIP-seq
MIRT1549373	hsa-miR-4778-3p	CLIP-seq
MIRT1549374	hsa-miR-9	CLIP-seq
MIRT2006088	hsa-miR-1305	CLIP-seq
MIRT2006089	hsa-miR-149	CLIP-seq
MIRT2006090	hsa-miR-4256	CLIP-seq
MIRT2006091	hsa-miR-591	CLIP-seq
MIRT2006092	hsa-miR-593	CLIP-seq
MIRT2006093	hsa-miR-607	CLIP-seq
MIRT2006094	hsa-miR-760	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003774	Function	Cytoskeletal motor activity	IEA
GO:0003774	Function	Cytoskeletal motor activity	ISS
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004941	Function	Beta2-adrenergic receptor activity	IDA	23936473
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005929	Component	Cilium	IDA	28154160
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IDA	35501348
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	NAS	11056049
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IDA	23936473
GO:0007602	Process	Phototransduction	IBA
GO:0007626	Process	Locomotory behavior	IEA
GO:0008020	Function	G protein-coupled photoreceptor activity	IBA
GO:0009584	Process	Detection of visible light	IEA
GO:0016020	Component	Membrane	IEA
GO:0019228	Process	Neuronal action potential	IEA
GO:0042995	Component	Cell projection	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0060170	Component	Ciliary membrane	IDA	23936473
GO:0060170	Component	Ciliary membrane	IEA
GO:0061743	Process	Motor learning	IEA
GO:0061743	Process	Motor learning	ISS
GO:0071482	Process	Cellular response to light stimulus	IBA
GO:0071875	Process	Adrenergic receptor signaling pathway	IEA

Other IDs

• MIM: 607468
• HGNC: 4539
• e!Ensembl: ENSG00000181656

Protein

• UniProt ID: Q9GZN0
• Protein name: G protein-coupled receptor 88 (Striatum-specific G-protein coupled receptor)
• Protein function: Orphan G protein-coupled receptor implicated in a large repertoire of behavioral responses that engage motor activities, spatial learning, and emotional processing (By similarity). May play a role in the regulation of cognitive and motor functio
• PDB: 7EJX, 7WZ4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	48 → 336	7 transmembrane receptor (rhodopsin family)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed predominantly in the striatum. {ECO:0000269|PubMed:11056049}.
• Sequence:

  MTNSSSTSTSSTTGGSLLLLCEEEESWAGRRIPVSLLYSGLAIGGTLANGMVIYLVSSFR
  KLQTTSNAFIVNGCAADLSVCALWMPQEAVLGLLPTGSAEPPADWDGAGGSYRLLRGGLL
  GLGLTVSLLSHCLVALNRYLLITRAPATYQALYQRRHTAGMLALSWALALGLVLLLPPWA
  PRPGAAPPRVHYPALLAAAALLAQTALLLHCYLGIVRRVRVSVKRVSVLNFHLLHQLPGC
  AAAAAAFPGAQHAPGPGGAAHPAQAQPLPPALHPRRAQRRLSGLSVLLLCCVFLLATQPL
  VWVSLASGFSLPVPWGVQAASWLLCCALSALNPLLYTWRNEEFRRSVRSVLPGVGDAAAA
  AVAATAVPAVSQAQLGTRAAGQHW

• Sequence length: 384

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Chorea, childhood-onset, with psychomotor retardation	Pathogenic	rs875989788	RCV000211058	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
GPR88-related disorder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abnormal involuntary movement	Abnormal Involuntary Movement	BEFREE	31666199		★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	BEFREE	28855710		★☆☆☆☆ Found in Text Mining only
CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION	Chorea With Psychomotor Retardation	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION	Chorea With Psychomotor Retardation	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CNS disorder	CNS Disorder	BEFREE	30540906		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	31666199		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28678544		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	39334510	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	19796684		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30540906, 31666199		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	31666199		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	19796684, 28700108, 30540906		★☆☆☆☆ Found in Text Mining only