ADGRG5

adhesion G protein-coupled receptor G5, the group of Adhesion G protein-coupled receptors, subfamily G

Basic information

Region (hg38): 16:57542643-57591681

Previous symbols: [ "GPR114" ]

Links

ENSG00000159618 ∙ NCBI:221188 ∙ OMIM:616965 ∙ HGNC:19010 ∙ Uniprot:Q8IZF4 ∙ 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 ADGRG5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADGRG5 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			33	3	2	38
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	33	3	2

Variants in ADGRG5

This is a list of pathogenic ClinVar variants found in the ADGRG5 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-57562105-T-G		not specified	Uncertain significance (May 08, 2023)
16-57562151-A-G			Benign (Jun 27, 2018)
16-57563093-A-G		not specified	Uncertain significance (Nov 21, 2023)
16-57563893-G-A		not specified	Uncertain significance (May 15, 2023)
16-57563924-G-A		not specified	Uncertain significance (Oct 20, 2023)
16-57563966-C-A		not specified	Uncertain significance (Sep 26, 2022)
16-57565035-A-G		not specified	Uncertain significance (Apr 13, 2022)
16-57565040-A-G		not specified	Uncertain significance (Mar 01, 2024)
16-57565067-G-A		not specified	Uncertain significance (Jul 12, 2023)
16-57565096-C-A		not specified	Uncertain significance (Jun 28, 2022)
16-57565149-T-G		not specified	Uncertain significance (Jan 19, 2024)
16-57566605-T-C		not specified	Uncertain significance (Dec 16, 2023)
16-57566654-G-C		not specified	Uncertain significance (May 24, 2023)
16-57566656-G-C		not specified	Uncertain significance (Jul 12, 2022)
16-57566659-G-A		not specified	Uncertain significance (Oct 10, 2023)
16-57566677-T-G		not specified	Uncertain significance (Aug 02, 2022)
16-57566680-C-T		not specified	Uncertain significance (Feb 13, 2024)
16-57566681-G-A		not specified	Likely benign (Jun 10, 2024)
16-57566692-C-G		not specified	Uncertain significance (May 05, 2023)
16-57567477-C-T		not specified	Uncertain significance (Dec 17, 2023)
16-57567516-C-T		not specified	Uncertain significance (Apr 25, 2022)
16-57567546-C-G		not specified	Uncertain significance (Jun 11, 2021)
16-57567932-C-G			Benign (Jun 27, 2018)
16-57567941-G-A		not specified	Uncertain significance (Aug 28, 2023)
16-57567989-G-A		not specified	Uncertain significance (Sep 14, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADGRG5	protein_coding	protein_coding	ENST00000340339	11	49261

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.134	0.865	125730	0	17	125747	0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.394	293	313	0.937	0.0000193	3394
Missense in Polyphen		84	104.02	0.80751		1271
Synonymous	0.150	137	139	0.984	0.00000899	1111
Loss of Function	3.29	6	23.0	0.261	9.84e-7	254

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000210	0.000210
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000538	0.0000527
Middle Eastern	0.000109	0.000109
South Asian	0.000101	0.0000980
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Adhesion G protein-coupled receptor (GPCR). Transduces intracellular signals through coupling to guanine nucleotide- binding protein G(s) subunit alpha and activation of adenylate cyclase pathway. Isoform 1, but not isoform 2, is constitutively active, as evidenced by elevated basal cAMP levels, and responds to mechanical activation (shaking). {ECO:0000250|UniProtKB:Q3V3Z3, ECO:0000305|PubMed:25713288}.

Intolerance Scores

• rvis_EVS: 0.18
• rvis_percentile_EVS: 66.24

Haploinsufficiency Scores

• pHI: 0.0689
• hipred: N
• hipred_score: 0.270
• ghis: 0.535

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Adgrg5

Gene ontology

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