GPR82

G protein-coupled receptor 82, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): X:41724180-41730130

Links

ENSG00000171657 ∙ NCBI:27197 ∙ OMIM:300748 ∙ HGNC:4533 ∙ Uniprot:Q96P67 ∙ 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 GPR82 gene.

• Inborn genetic diseases (6 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR82 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				2		2
missense			5	3		8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	5	0

Variants in GPR82

This is a list of pathogenic ClinVar variants found in the GPR82 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-41727085-T-C		not specified	Uncertain significance (Aug 20, 2023)
X-41727126-A-T		not specified	Likely benign (Sep 28, 2022)
X-41727423-T-C		not specified	Uncertain significance (Dec 21, 2022)
X-41727425-C-T			Likely benign (May 01, 2023)
X-41727469-A-G		not specified	Uncertain significance (Jan 03, 2024)
X-41727508-G-T		Malignant tumor of prostate	Uncertain significance (-)
X-41727536-T-C			Likely benign (Nov 01, 2022)
X-41727543-T-C		not specified	Uncertain significance (Mar 01, 2024)
X-41727580-G-A			Likely benign (Sep 01, 2016)
X-41727628-T-C		not specified	Likely benign (Mar 07, 2024)
X-41727640-T-C		not specified	Uncertain significance (Dec 06, 2022)
X-41727704-C-A			Likely benign (Jun 05, 2017)
X-41727717-A-G		not specified	Uncertain significance (Jan 30, 2024)
X-41727886-T-C		not specified	Uncertain significance (May 17, 2023)
X-41727902-C-G		not specified	Uncertain significance (Dec 30, 2023)
X-41727954-C-A		not specified	Uncertain significance (Nov 09, 2023)
X-41727965-T-C		not specified	Likely benign (-)
X-41727975-A-C		not specified	Uncertain significance (Sep 17, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR82	protein_coding	protein_coding	ENST00000302548	1	5981

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.144	0.786	125674	4	13	125691	0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.562	101	118	0.855	0.00000825	2196
Missense in Polyphen		29	35.719	0.8119		665
Synonymous	-1.70	57	42.8	1.33	0.00000310	656
Loss of Function	1.47	2	5.83	0.343	3.65e-7	136

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000365	0.0000365
Ashkenazi Jewish	0.00	0.00
East Asian	0.000144	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000147	0.000106
Middle Eastern	0.000144	0.000109
South Asian	0.000105	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan receptor.

Intolerance Scores

• loftool: 0.613
• rvis_EVS: 0.1
• rvis_percentile_EVS: 61.28

Haploinsufficiency Scores

• pHI: 0.313
• hipred: N
• hipred_score: 0.248
• ghis: 0.396

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0685

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr82
• Phenotype: normal phenotype

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: G protein-coupled receptor activity