Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	54112
Gene name	G protein-coupled receptor 88
Gene symbol	GPR88
Synonyms (NCBI Gene)	COCPMRSTRG
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

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

21 Show/Hide all (21)

miRTarBase ID	miRNA	Experiments
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

32 Show/Hide all (32)

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

MIM	HGNC	e!Ensembl
607468	4539	ENSG00000181656

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

Interactions

View interactions

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)

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

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
GPR88-related disorder	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (14)
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	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION	Chorea With Psychomotor Retardation	CLINVAR_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

GPR88 (G protein-coupled receptor 88)

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