GPR17

protein-coding

G protein-coupled receptor 17, the group of G protein-coupled receptors, Class A orphans

Gene summary

Predicted to enable G protein-coupled receptor activity. Predicted to be involved in G protein-coupled receptor signaling pathway. Predicted to act upstream of or within negative regulation of inflammatory response to antigenic stimulus. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001161417.2

Inheritance

—

ClinVar variants

U:60B:12

Top phenotype

Autosomal recessive limb-girdle muscular dystrophy type 2W

gnomAD constraint

pLI —, LoF o/e 0.79

Max pathogenic AF

—

Genomic locus

chr2:127,645,864-127,652,639

External References & Databases

Ensembl (ENSG00000144230)

Transcript & Mutation Effects

hg38 • Region Span ~6.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to GPR17 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 60

not providedTotal: 11

Autosomal recessive limb-girdle muscular dystrophy type 2WTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001161417.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	7 clinvar	1 clinvar	9
missense			59 clinvar	3 clinvar	1 clinvar	63
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	60	10	2	72

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 13 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001161417.2	RefSeq	NP_001154889.1	1	MANE Select
ENST00000486700.2	Ensembl	ENSP00000508383.1	1	MANE Select
NM_001161415.2	RefSeq	NP_001154887.1	2	Standard
NM_001161416.2	RefSeq	NP_001154888.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

GPCRs, Other
GPCRs, Class A Rhodopsin-like
Signaling by GPCR
Signal Transduction
P2Y receptors

Biological Process

negative regulation of inflammatory response to antigenic stimulus
G protein-coupled receptor signaling pathway
positive regulation of Rho protein signal transduction
oligodendrocyte differentiation
positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway

Molecular Function

G protein-coupled receptor activity
chemokine receptor activity
receptor serine/threonine kinase binding

Cellular Component

plasma membrane
integral component of plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000544369
Coding exons: 2
Length: 6775
Individuals with no LoFs: 125702
Homozygous LoFs: 0
Heterozygous LoFs: 41
Defined: 125743
p: 0.000163

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0811	224	227	0.985	0.0000161	2357
Missense (PolyPhen)		76	85.561	0.88826		870
Synonymous	-0.646	112	104	1.08	0.00000769	808
Loss of Function	0.593	7	8.91	0.786	4.75e-7	92

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00062	0.00062	rare
Latino/Admixed American	0.00020	0.00020	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00016	0.00016	rare
South Asian	0.00013	0.00013	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Dual specificity receptor for uracil nucleotides and cysteinyl leukotrienes (CysLTs). Signals through G(i) and inhibition of adenylyl cyclase. May mediate brain damage by nucleotides and CysLTs following ischemia. {ECO:0000269|PubMed:16990797}.;

Recessive Scores

pRec: 0.130

Intolerance Scores

LoFtool: 0.506
RVIS EVS: -0.35
RVIS percentile EVS: 29.49

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.150

Gene Damage Prediction

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