ADGRE3

adhesion G protein-coupled receptor E3, the group of Adhesion G protein-coupled receptors, subfamily E

Basic information

Region (hg38): 19:14599080-14690027

Previous symbols: [ "EMR3" ]

Links

ENSG00000131355 ∙ NCBI:84658 ∙ OMIM:606101 ∙ HGNC:23647 ∙ Uniprot:Q9BY15 ∙ 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 ADGRE3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADGRE3 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			34	3		37
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	34	3	0

Variants in ADGRE3

This is a list of pathogenic ClinVar variants found in the ADGRE3 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-14600036-C-T		not specified	Uncertain significance (Dec 27, 2023)
19-14600037-G-A		not specified	Uncertain significance (Dec 13, 2021)
19-14600037-G-C		not specified	Uncertain significance (Sep 16, 2021)
19-14600058-G-C		not specified	Uncertain significance (Sep 06, 2022)
19-14600061-G-C		not specified	Uncertain significance (Oct 02, 2023)
19-14600074-G-C		not specified	Uncertain significance (Jul 06, 2021)
19-14600123-C-T		not specified	Uncertain significance (Jul 12, 2023)
19-14607050-A-G		not specified	Uncertain significance (Mar 19, 2024)
19-14607053-G-A		not specified	Uncertain significance (Sep 12, 2023)
19-14610162-C-T		not specified	Uncertain significance (Sep 17, 2021)
19-14625520-T-A		not specified	Uncertain significance (Apr 06, 2024)
19-14625576-C-A		not specified	Uncertain significance (May 25, 2022)
19-14625581-T-C		not specified	Uncertain significance (Aug 11, 2022)
19-14630042-C-A		not specified	Uncertain significance (Oct 30, 2023)
19-14630079-C-G		not specified	Uncertain significance (Mar 01, 2023)
19-14630087-G-T		not specified	Uncertain significance (Sep 14, 2022)
19-14630148-C-T		not specified	Uncertain significance (Sep 22, 2023)
19-14630206-T-C		not specified	Uncertain significance (Apr 16, 2024)
19-14632946-C-T		not specified	Uncertain significance (Oct 22, 2021)
19-14633243-A-G		not specified	Uncertain significance (Nov 27, 2023)
19-14638125-G-C		not specified	Uncertain significance (Dec 01, 2022)
19-14638131-C-G		not specified	Uncertain significance (Mar 02, 2023)
19-14638285-G-C		not specified	Uncertain significance (May 27, 2022)
19-14641423-G-T		not specified	Uncertain significance (Jun 09, 2022)
19-14641426-T-C		not specified	Uncertain significance (Jun 09, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADGRE3	protein_coding	protein_coding	ENST00000253673	16	70911

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.39e-28	0.0000215	125561	0	186	125747	0.000740

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.710	308	345	0.892	0.0000176	4264
Missense in Polyphen		81	106.21	0.76261		1368
Synonymous	1.02	123	138	0.890	0.00000795	1255
Loss of Function	-0.731	39	34.4	1.13	0.00000159	408

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000750	0.000747
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000282	0.000272
Finnish	0.000463	0.000462
European (Non-Finnish)	0.000907	0.000897
Middle Eastern	0.000282	0.000272
South Asian	0.00125	0.00124
Other	0.00133	0.00130

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan receptor that may play a role myeloid-myeloid interactions during immune and inflammatory responses. A ligand for the soluble form of this receptor is present at the surface of monocytes-derived macrophages and activated neutrophils. {ECO:0000269|PubMed:11279179}.
• Pathway: GPCRs, Other;Signaling by GPCR;Neutrophil degranulation;Signal Transduction;Innate Immune System;Immune System;Class B/2 (Secretin family receptors);GPCR ligand binding (Consensus)

Intolerance Scores

• rvis_EVS: 1.22
• rvis_percentile_EVS: 93.24

Haploinsufficiency Scores

• pHI: 0.0777
• hipred: N
• hipred_score: 0.182
• ghis: 0.416

Essentials

• essential_gene_gene_trap: N

Gene ontology

• Biological process: cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;neutrophil degranulation
• Cellular component: extracellular region;plasma membrane;integral component of plasma membrane;integral component of membrane;secretory granule membrane;ficolin-1-rich granule membrane
• Molecular function: G protein-coupled receptor activity;calcium ion binding