GPR62

G protein-coupled receptor 62, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 3:51955381-51957499

Links

ENSG00000180929 ∙ NCBI:118442 ∙ OMIM:606917 ∙ HGNC:13301 ∙ Uniprot:Q9BZJ7 ∙ 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 GPR62 gene.

• not_specified (46 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR62 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000080865.4. 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						0
missense			45	1		46
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	45	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR62	protein_coding	protein_coding	ENST00000322241	1	2180

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.262	0.646	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.52	96	148	0.648	0.00000721	2095
Missense in Polyphen		38	66.732	0.56945		1098
Synonymous	1.21	64	77.6	0.825	0.00000395	941
Loss of Function	1.25	1	3.55	0.282	1.56e-7	47

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
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(q/11)/inositol phosphate and the G(s)-alpha/cAMP signaling pathways (PubMed:28827538). Has spontaneous activity for beta-arrestin recruitment (PubMed:28827538). Shows a reciprocal modulation of signaling functions with the melatonin receptor MTNR1B most likely through receptor heteromerization (PubMed:28827538). {ECO:0000269|PubMed:28827538}.
• Pathway: GPCRs, Other (Consensus)

Haploinsufficiency Scores

• pHI: 0.398
• hipred: N
• hipred_score: 0.312

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0911

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr62

Gene ontology

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