GPR17

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

Basic information

Region (hg38): 2:127645864-127652639

Links

ENSG00000144230 ∙ NCBI:2840 ∙ OMIM:603071 ∙ HGNC:4471 ∙ Uniprot:Q13304 ∙ 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 GPR17 gene.

• not_specified (51 variants)
• not_provided (7 variants)
• Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2W (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR17 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001161417.2. 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				4	1	5
missense			50	2	1	53
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	50	6	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR17	protein_coding	protein_coding	ENST00000544369	2	6775

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000843	0.554	125702	0	41	125743	0.000163

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0811	224	227	0.985	0.0000161	2357
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000819	0.000818
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000159	0.000158
Middle Eastern	0.0000544	0.0000544
South Asian	0.000131	0.000131
Other	0.000164	0.000163

dbNSFP

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}.
• Pathway: GPCRs, Other;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;P2Y receptors;Eicosanoid ligand-binding receptors;Nucleotide-like (purinergic) receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;Leukotriene receptors;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.130

Intolerance Scores

• loftool: 0.506
• rvis_EVS: -0.35
• rvis_percentile_EVS: 29.49

Haploinsufficiency Scores

• pHI: 0.213
• hipred: N
• hipred_score: 0.204
• ghis: 0.471

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.150

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr17
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); 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)

Gene ontology

• 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;chemokine-mediated signaling pathway
• Cellular component: plasma membrane;integral component of plasma membrane
• Molecular function: G protein-coupled receptor activity;chemokine receptor activity;receptor serine/threonine kinase binding