GPR37L1

G protein-coupled receptor 37 like 1, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 1:202122886-202133592

Links

ENSG00000170075 ∙ NCBI:9283 ∙ OMIM:617630 ∙ HGNC:14923 ∙ Uniprot:O60883 ∙ 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 GPR37L1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR37L1 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		1
missense			30	2		32
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	3	0

Variants in GPR37L1

This is a list of pathogenic ClinVar variants found in the GPR37L1 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-202123026-G-C		not specified	Uncertain significance (Mar 02, 2023)
1-202123128-C-T		not specified	Likely benign (Dec 21, 2023)
1-202123129-G-A		not specified	Uncertain significance (Jan 23, 2023)
1-202123144-C-T		not specified	Uncertain significance (Dec 21, 2023)
1-202123165-C-T		not specified	Uncertain significance (Jun 05, 2024)
1-202123168-C-T		not specified	Uncertain significance (Feb 23, 2023)
1-202123288-G-A		not specified	Likely benign (Jul 19, 2022)
1-202123328-C-G		not specified	Uncertain significance (Apr 12, 2022)
1-202123407-C-A		not specified	Uncertain significance (Aug 17, 2022)
1-202123546-C-G		not specified	Uncertain significance (Apr 20, 2024)
1-202123564-G-A		not specified	Uncertain significance (May 24, 2024)
1-202123577-C-T		not specified	Uncertain significance (May 17, 2023)
1-202127855-C-G		not specified	Uncertain significance (Aug 15, 2023)
1-202127858-G-A		not specified	Uncertain significance (Jan 08, 2024)
1-202127939-G-A		not specified	Uncertain significance (Mar 16, 2024)
1-202127989-C-A		not specified	Uncertain significance (Aug 16, 2021)
1-202127996-G-A		not specified	Uncertain significance (Sep 07, 2022)
1-202128042-G-T		not specified	Uncertain significance (May 09, 2023)
1-202128086-G-A		not specified	Uncertain significance (May 18, 2022)
1-202128087-T-G		not specified	Uncertain significance (May 14, 2024)
1-202128149-G-T		not specified	Uncertain significance (Apr 20, 2023)
1-202128157-G-T			Uncertain significance (Apr 20, 2018)
1-202128191-G-A		not specified	Uncertain significance (Oct 26, 2022)
1-202128239-G-A		not specified	Uncertain significance (Dec 13, 2023)
1-202128251-G-A		not specified	Uncertain significance (Feb 16, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR37L1	protein_coding	protein_coding	ENST00000367282	2	10735

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.02e-9	0.172	125707	0	41	125748	0.000163

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.634	253	283	0.894	0.0000163	3065
Missense in Polyphen		63	101.33	0.6217		1172
Synonymous	0.353	128	133	0.961	0.00000871	1050
Loss of Function	0.459	15	17.0	0.880	9.04e-7	163

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000300	0.000300
Ashkenazi Jewish	0.00	0.00
East Asian	0.000327	0.000326
Finnish	0.0000926	0.0000924
European (Non-Finnish)	0.000210	0.000193
Middle Eastern	0.000327	0.000326
South Asian	0.0000654	0.0000653
Other	0.000165	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: G-protein coupled receptor (PubMed:27072655). Has been shown to bind the neuroprotective and glioprotective factor prosaposin (PSAP), leading to endocytosis followed by an ERK phosphorylation cascade (PubMed:23690594). However, other studies have shown that prosaposin does not increase activity (PubMed:27072655, PubMed:28688853). It has been suggested that GPR37L1 is a constitutively active receptor which signals through the guanine nucleotide-binding protein G(s) subunit alpha (PubMed:27072655). Participates in the regulation of postnatal cerebellar development by modulating the Shh pathway (By similarity). Regulates baseline blood pressure in females and protects against cardiovascular stress in males (By similarity). Mediates inhibition of astrocyte glutamate transporters and reduction in neuronal N-methyl-D-aspartate receptor activity (By similarity). {ECO:0000250|UniProtKB:Q99JG2, ECO:0000269|PubMed:23690594, ECO:0000269|PubMed:27072655, ECO:0000269|PubMed:28688853}.
• Pathway: GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;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: 0.116

Intolerance Scores

• loftool: 0.561
• rvis_EVS: -0.42
• rvis_percentile_EVS: 25.73

Haploinsufficiency Scores

• pHI: 0.212
• hipred: N
• hipred_score: 0.282
• ghis: 0.601

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.723

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr37l1
• 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); normal phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); vision/eye phenotype; 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); homeostasis/metabolism phenotype; cellular phenotype

Gene ontology

• Biological process: negative regulation of systemic arterial blood pressure;G protein-coupled receptor signaling pathway;adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;positive regulation of cerebellar granule cell precursor proliferation;positive regulation of MAPK cascade;negative regulation of neuron differentiation;negative regulation of smoothened signaling pathway;negative regulation of astrocyte differentiation;negative regulation of hydrogen peroxide-induced cell death
• Cellular component: plasma membrane;integral component of membrane;receptor complex;ciliary membrane
• Molecular function: G protein-coupled receptor activity;protein binding;G protein-coupled peptide receptor activity;prosaposin receptor activity;peptide binding