GPR83

G protein-coupled receptor 83, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 11:94377315-94401419

Previous symbols: [ "GPR72" ]

Links

ENSG00000123901 ∙ NCBI:10888 ∙ OMIM:605569 ∙ HGNC:4523 ∙ Uniprot:Q9NYM4 ∙ 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 GPR83 gene.

• Inborn genetic diseases (23 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR83 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			23		1	24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	1	1

Variants in GPR83

This is a list of pathogenic ClinVar variants found in the GPR83 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-94380184-G-T		not specified	Uncertain significance (Feb 10, 2022)
11-94380201-T-A		not specified	Uncertain significance (Dec 26, 2023)
11-94380235-G-A		not specified	Uncertain significance (Jun 29, 2022)
11-94380271-C-T		not specified	Uncertain significance (May 24, 2023)
11-94380276-C-T		not specified	Uncertain significance (Dec 28, 2022)
11-94380325-G-T		not specified	Uncertain significance (Sep 16, 2021)
11-94380410-G-C		not specified	Uncertain significance (Jul 25, 2023)
11-94380429-T-C		not specified	Uncertain significance (Dec 06, 2022)
11-94380484-G-A		not specified	Uncertain significance (Jun 24, 2022)
11-94380507-C-G		not specified	Uncertain significance (Dec 21, 2022)
11-94380568-G-A		not specified	Uncertain significance (Apr 25, 2022)
11-94380570-C-T		not specified	Uncertain significance (Apr 06, 2023)
11-94380636-A-T		not specified	Uncertain significance (Jul 14, 2022)
11-94380712-T-C		not specified	Uncertain significance (Jul 13, 2022)
11-94380759-C-T		not specified	Uncertain significance (Jan 11, 2023)
11-94380763-C-A		not specified	Uncertain significance (Jun 13, 2023)
11-94380767-G-T			Benign (Apr 17, 2018)
11-94393561-C-A		not specified	Uncertain significance (Apr 22, 2022)
11-94393594-G-A		not specified	Uncertain significance (Dec 01, 2022)
11-94396407-G-A		not specified	Uncertain significance (Nov 18, 2022)
11-94396418-A-G		not specified	Uncertain significance (Jan 09, 2024)
11-94396424-G-C		not specified	Uncertain significance (May 08, 2023)
11-94396469-C-T		not specified	Uncertain significance (May 10, 2023)
11-94396470-G-A		not specified	Uncertain significance (Feb 28, 2023)
11-94400983-T-C		not specified	Uncertain significance (May 16, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR83	protein_coding	protein_coding	ENST00000243673	4	24109

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000102	0.562	125704	0	44	125748	0.000175

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.556	272	247	1.10	0.0000131	2766
Missense in Polyphen		99	96.115	1.03		1103
Synonymous	-1.13	118	103	1.14	0.00000550	866
Loss of Function	0.895	11	14.7	0.748	6.67e-7	161

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000451	0.000451
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000490	0.000489
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000141	0.000141
Middle Eastern	0.000490	0.000489
South Asian	0.000163	0.000163
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan receptor. Could be a neuropeptide Y receptor.
• Pathway: Neuroactive ligand-receptor interaction - Homo sapiens (human);GPCRs, Other;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Ghrelin;G alpha (s) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.251

Intolerance Scores

• loftool: 0.525
• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.82

Haploinsufficiency Scores

• pHI: 0.125
• hipred: N
• hipred_score: 0.479
• ghis: 0.557

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.132

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr83
• Phenotype: immune system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hematopoietic system phenotype; normal phenotype

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;neuropeptide signaling pathway;response to glucocorticoid
• Cellular component: plasma membrane;integral component of membrane;non-motile cilium
• Molecular function: G protein-coupled receptor activity;neuropeptide Y receptor activity