GPR37

protein-coding

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

Gene summary

This gene is a member of the G protein-coupled receptor family. The encoded protein contains seven transmembrane domains and is found in cell and endoplasmic reticulum membranes. G protein-coupled receptors are involved in translating outside signals into G protein mediated intracellular effects. This gene product interacts with Parkin and is involved in juvenile Parkinson disease. [provided by RefSeq, Oct 2012]

MANE transcript

NM_005302.5

Inheritance

—

ClinVar variants

U:75B:10

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.45

Max pathogenic AF

—

Genomic locus

chr7:124,743,885-124,765,792

External References & Databases

Ensembl (ENSG00000170775)

Transcript & Mutation Effects

hg38 • Region Span ~21.9 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 GPR37 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 75

not providedTotal: 7

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_005302.5. 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	1 clinvar	5 clinvar	7
missense			74 clinvar	3 clinvar	1 clinvar	78
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	75	4	6	85

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_005302.5	RefSeq	NP_005293.1	2	MANE Select
ENST00000303921.3	Ensembl	ENSP00000306449.2	2	MANE Select
ENST00001136952.1	Ensembl	ENSP00000805832.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Parkinson,s disease - Homo sapiens (human)
Parkin-Ubiquitin Proteasomal System pathway
Parkinsons Disease Pathway
GPCRs, Class A Rhodopsin-like
Signaling by GPCR

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

Molecular Function

G protein-coupled receptor activity
protein binding
G protein-coupled peptide receptor activity
Hsp70 protein binding
heat shock protein binding

Cellular Component

ubiquitin ligase complex
endoplasmic reticulum
endoplasmic reticulum membrane
plasma membrane
integral component of plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000303921
Coding exons: 2
Length: 19631
Individuals with no LoFs: 125721
Homozygous LoFs: 0
Heterozygous LoFs: 27
Defined: 125748
p: 0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.839	316	361	0.876	0.0000191	3909
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.00023	0.00023	rare
Ashkenazi Jewish	0.00021	0.00020	rare
East Asian	0.000054	0.000054	rare
Finnish	0.00033	0.00032	rare
European (Non-Finnish)	0.000045	0.000044	rare
South Asian	0.00010	0.000098	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec: 0.166

Intolerance Scores

LoFtool: 0.152
RVIS EVS: -0.42
RVIS percentile EVS: 25.64

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.799

Gene Damage Prediction

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