GPR61

G protein-coupled receptor 61, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 1:109539871-109548406

Links

ENSG00000156097 ∙ NCBI:83873 ∙ OMIM:606916 ∙ HGNC:13300 ∙ Uniprot:Q9BZJ8 ∙ 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 GPR61 gene.

• Inborn genetic diseases (13 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR61 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						0
missense			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	0	0

Variants in GPR61

This is a list of pathogenic ClinVar variants found in the GPR61 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-109543215-G-A		not specified	Uncertain significance (Aug 02, 2022)
1-109543299-C-G		not specified	Uncertain significance (Nov 02, 2023)
1-109543440-C-A		not specified	Uncertain significance (Sep 27, 2022)
1-109543445-C-G			not provided (-)
1-109543450-A-G		not specified	Uncertain significance (Jul 25, 2023)
1-109543482-A-C		not specified	Uncertain significance (Jan 30, 2024)
1-109543516-G-C		not specified	Uncertain significance (Jan 29, 2024)
1-109543696-T-C		not specified	Uncertain significance (Sep 22, 2022)
1-109543738-C-T		not specified	Uncertain significance (Apr 17, 2023)
1-109543786-G-A		not specified	Uncertain significance (Jan 06, 2023)
1-109543795-C-G		not specified	Uncertain significance (Sep 27, 2022)
1-109543806-C-T		not specified	Uncertain significance (Jun 21, 2022)
1-109543834-C-T		not specified	Uncertain significance (Dec 07, 2021)
1-109544199-G-A		not specified	Uncertain significance (Oct 24, 2023)
1-109544214-C-G		not specified	Uncertain significance (Aug 04, 2023)
1-109544301-G-A		not specified	Uncertain significance (Jun 23, 2023)
1-109544346-C-T		not specified	Uncertain significance (Dec 01, 2022)
1-109544365-G-A		not specified	Uncertain significance (May 11, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR61	protein_coding	protein_coding	ENST00000527748	1	8535

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.778	0.222	125742	0	6	125748	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.09	170	266	0.640	0.0000166	2875
Missense in Polyphen		46	84.504	0.54436		901
Synonymous	0.944	99	112	0.886	0.00000687	1019
Loss of Function	2.93	2	13.7	0.146	9.32e-7	128

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan G-protein coupled receptor. Constitutively activates the G(s)-alpha/cAMP signaling pathway (PubMed:28827538). Shows a reciprocal regulatory interaction with the melatonin receptor MTNR1B most likely through receptor heteromerization (PubMed:28827538). May be involved in the regulation of food intake and body weight (By similarity). {ECO:0000250|UniProtKB:Q8C010, ECO:0000269|PubMed:28827538}.
• Pathway: GPCRs, Other (Consensus)

Recessive Scores

• pRec: 0.121

Intolerance Scores

• loftool: 0.282
• rvis_EVS: -0.47
• rvis_percentile_EVS: 23.04

Haploinsufficiency Scores

• pHI: 0.809
• hipred: Y
• hipred_score: 0.673
• ghis: 0.622

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.445

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr61

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;positive regulation of cAMP-mediated signaling
• Cellular component: endosome;plasma membrane;endosome membrane;integral component of membrane;receptor complex
• Molecular function: G protein-coupled receptor activity;protein binding;arrestin family protein binding