ADGRG3

adhesion G protein-coupled receptor G3, the group of Adhesion G protein-coupled receptors, subfamily G

Basic information

Region (hg38): 16:57668277-57689378

Previous symbols: [ "GPR97" ]

Links

ENSG00000182885 ∙ NCBI:222487 ∙ OMIM:618441 ∙ HGNC:13728 ∙ Uniprot:Q86Y34 ∙ 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 ADGRG3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADGRG3 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			32	9		41
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	32	10	0

Variants in ADGRG3

This is a list of pathogenic ClinVar variants found in the ADGRG3 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-57668397-C-T		not specified	Likely benign (Feb 11, 2022)
16-57673374-A-T		not specified	Uncertain significance (Nov 17, 2023)
16-57673380-G-A		not specified	Uncertain significance (Oct 06, 2021)
16-57673399-A-G		not specified	Uncertain significance (Dec 01, 2022)
16-57673400-C-G		not specified	Uncertain significance (Dec 28, 2022)
16-57673416-A-G		not specified	Uncertain significance (Jun 06, 2023)
16-57673423-G-T		not specified	Uncertain significance (Jan 24, 2024)
16-57673425-A-G		not specified	Uncertain significance (Dec 15, 2022)
16-57673440-G-A		not specified	Likely benign (Jan 06, 2023)
16-57676283-A-G		not specified	Uncertain significance (Mar 05, 2024)
16-57676307-A-G		not specified	Uncertain significance (Aug 03, 2022)
16-57678174-C-T		not specified	Uncertain significance (Apr 27, 2022)
16-57678194-G-A		not specified	Uncertain significance (Feb 15, 2023)
16-57678230-A-T		not specified	Uncertain significance (Oct 26, 2021)
16-57678248-C-T		not specified	Uncertain significance (Sep 27, 2022)
16-57678270-G-A		not specified	Uncertain significance (Jun 23, 2021)
16-57679184-G-A		not specified	Likely benign (Dec 13, 2022)
16-57679190-G-T		not specified	Uncertain significance (Jan 23, 2023)
16-57679207-G-A		not specified	Likely benign (Mar 20, 2023)
16-57679210-G-A		not specified	Uncertain significance (Oct 25, 2023)
16-57679223-G-A		not specified	Likely benign (Nov 08, 2022)
16-57679238-G-A		not specified	Uncertain significance (Jun 06, 2023)
16-57680267-A-C		not specified	Likely benign (May 25, 2022)
16-57680301-C-A		not specified	Uncertain significance (Mar 13, 2023)
16-57680321-A-T		not specified	Uncertain significance (Jan 23, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADGRG3	protein_coding	protein_coding	ENST00000333493	12	21877

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.94e-14	0.0721	125592	0	156	125748	0.000620

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.340	309	326	0.947	0.0000191	3549
Missense in Polyphen		94	102.28	0.91908		1255
Synonymous	0.382	135	141	0.959	0.00000853	1145
Loss of Function	0.600	22	25.3	0.871	0.00000131	273

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00241	0.00242
Ashkenazi Jewish	0.00	0.00
East Asian	0.00250	0.00250
Finnish	0.00	0.00
European (Non-Finnish)	0.000467	0.000457
Middle Eastern	0.00250	0.00250
South Asian	0.000359	0.000359
Other	0.000490	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan receptor that regulates migration of lymphatic endothelial cells in vitro via the small GTPases RhoA and CDC42 (PubMed:24178298). Regulates B-cell development (By similarity). Seems to signal through G-alpha(q)-proteins (PubMed:22575658). {ECO:0000250|UniProtKB:Q8R0T6, ECO:0000269|PubMed:22575658, ECO:0000269|PubMed:24178298}.
• Pathway: Neutrophil degranulation;Innate Immune System;Immune System (Consensus)

Recessive Scores

• pRec: 0.0941

Intolerance Scores

• rvis_EVS: -0.11
• rvis_percentile_EVS: 45.57

Haploinsufficiency Scores

• pHI: 0.0705
• hipred: N
• hipred_score: 0.146
• ghis: 0.501

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Adgrg3
• Phenotype: cellular phenotype; immune system phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;B cell differentiation;regulation of cell migration;negative regulation of CREB transcription factor activity;neutrophil degranulation;negative regulation of NIK/NF-kappaB signaling
• Cellular component: plasma membrane;integral component of plasma membrane;integral component of membrane;specific granule membrane
• Molecular function: G protein-coupled receptor activity