GPR37

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

Basic information

Region (hg38): 7:124743884-124765792

Links

ENSG00000170775NCBI:2861OMIM:602583HGNC:4494Uniprot:O15354AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GPR37 gene.

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.

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.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
1
clinvar
5
clinvar
6
missense
28
clinvar
1
clinvar
1
clinvar
30
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 28 2 6

Variants in GPR37

This is a list of pathogenic ClinVar variants found in the GPR37 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
7-124746590-G-A not specified Uncertain significance (Dec 20, 2023)3101743
7-124746639-T-G Benign (Aug 07, 2018)715612
7-124746761-A-G not specified Uncertain significance (May 10, 2024)3282386
7-124746788-T-C not specified Uncertain significance (Aug 17, 2022)2408947
7-124746848-G-T not specified Uncertain significance (Dec 28, 2022)2340004
7-124746892-C-T not specified Uncertain significance (May 13, 2024)3282385
7-124746905-T-C not specified Uncertain significance (May 18, 2022)2290160
7-124746917-T-G not specified Uncertain significance (May 02, 2024)3282390
7-124747052-C-T not specified Uncertain significance (Aug 02, 2021)2204397
7-124747086-T-C Benign (Jun 06, 2018)713973
7-124747106-T-C not specified Uncertain significance (Apr 12, 2023)2517917
7-124747254-T-G not specified Uncertain significance (Apr 25, 2023)2540565
7-124763966-C-A Likely benign (Apr 16, 2018)718623
7-124764108-T-C not specified Uncertain significance (Apr 05, 2023)2533058
7-124764130-T-C not specified Uncertain significance (Aug 14, 2023)2617943
7-124764155-G-A Benign (Jun 06, 2018)729160
7-124764180-C-A not specified Uncertain significance (Jul 22, 2022)2389927
7-124764186-A-T not specified Uncertain significance (Apr 28, 2023)2541787
7-124764192-T-C not specified Uncertain significance (Mar 15, 2024)3282388
7-124764210-T-C not specified Uncertain significance (Dec 27, 2022)2339412
7-124764254-C-A Benign (Jul 10, 2018)772891
7-124764294-C-A Benign (Oct 02, 2018)786110
7-124764348-C-A not specified Uncertain significance (Dec 01, 2022)2231654
7-124764351-C-T not specified Uncertain significance (Nov 30, 2021)2262621
7-124764372-T-C not specified Likely benign (Feb 13, 2024)3101749

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
GPR37protein_codingprotein_codingENST00000303921 219631
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0003380.9891257210271257480.000107
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.8393163610.8760.00001913909
Missense in Polyphen109136.770.796971509
Synonymous0.9091351490.9050.000008221316
Loss of Function2.26919.90.4520.00000102219

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0002950.000295
Ashkenazi Jewish0.0002120.000198
East Asian0.00005440.0000544
Finnish0.0003280.000323
European (Non-Finnish)0.00004510.0000439
Middle Eastern0.00005440.0000544
South Asian0.0001010.0000980
Other0.000.00

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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