GPR37

G protein-coupled receptor 37, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 7:124743885-124765792

Links

ENSG00000170775 ∙ NCBI:2861 ∙ OMIM:602583 ∙ HGNC:4494 ∙ Uniprot:O15354 ∙ 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 GPR37 gene.

• not_specified (70 variants)
• not_provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR37 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005302.5. 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				1	5	6
missense			67	3	1	71
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	67	4	6

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR37	protein_coding	protein_coding	ENST00000303921	2	19631

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000338	0.989	125721	0	27	125748	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.839	316	361	0.876	0.0000191	3909
Missense in Polyphen		109	136.77	0.79697		1509
Synonymous	0.909	135	149	0.905	0.00000822	1316
Loss of Function	2.26	9	19.9	0.452	0.00000102	219

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000295	0.000295
Ashkenazi Jewish	0.000212	0.000198
East Asian	0.0000544	0.0000544
Finnish	0.000328	0.000323
European (Non-Finnish)	0.0000451	0.0000439
Middle Eastern	0.0000544	0.0000544
South Asian	0.000101	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for the neuroprotective and glioprotective factor prosaposin. Ligand binding induces endocytosis, followed by an ERK phosphorylation cascade. {ECO:0000269|PubMed:11439185, ECO:0000269|PubMed:23690594, ECO:0000269|PubMed:9526070}.
• Pathway: Parkinson,s disease - Homo sapiens (human);Parkin-Ubiquitin Proteasomal System pathway;Parkinsons Disease Pathway;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;role of parkin in ubiquitin-proteasomal pathway;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.166

Intolerance Scores

• loftool: 0.152
• rvis_EVS: -0.42
• rvis_percentile_EVS: 25.64

Haploinsufficiency Scores

• pHI: 0.851
• hipred: Y
• hipred_score: 0.853
• ghis: 0.504

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.799

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr37
• Phenotype: normal phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms 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); adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype; cellular phenotype

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;locomotion involved in locomotory behavior;dopamine biosynthetic process;positive regulation of MAPK cascade;positive regulation of dopamine metabolic process;negative regulation of hydrogen peroxide-induced cell death
• Cellular component: ubiquitin ligase complex;endoplasmic reticulum;endoplasmic reticulum membrane;plasma membrane;integral component of plasma membrane;receptor complex
• Molecular function: G protein-coupled receptor activity;protein binding;G protein-coupled peptide receptor activity;Hsp70 protein binding;heat shock protein binding;ubiquitin protein ligase binding;prosaposin receptor activity;peptide binding