GeneBe

ADGRE2

adhesion G protein-coupled receptor E2, the group of Adhesion G protein-coupled receptors, subfamily E|CD molecules

Basic information

Region (hg38): 19:14732392-14778560

Previous symbols: [ "EMR2" ]

Links

ENSG00000127507 ∙ NCBI:30817 ∙ OMIM:606100 ∙ HGNC:3337 ∙ Uniprot:Q9UHX3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • autosomal dominant vibratory urticaria (Limited), mode of inheritance: Unknown
  • autosomal dominant vibratory urticaria (Supportive), mode of inheritance: AD
  • autosomal dominant vibratory urticaria (Limited), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Vibratory urticariaADGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingDermatologic7294069; 26841242

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ADGRE2 gene.

  • not_provided (442 variants)
  • not_specified (169 variants)
  • ADGRE2-related_disorder (25 variants)
  • Vibratory_urticaria (9 variants)
  • Autosomal_dominant_vibratory_urticaria (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADGRE2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000013447.4. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
5
clinvar
90
clinvar
7
clinvar
 102
missense
1
clinvar
246
clinvar
36
clinvar
26
clinvar
 309
nonsense
1
clinvar
16
clinvar
3
clinvar
5
clinvar
 25
start loss
1
 1
frameshift
10
clinvar
3
clinvar
6
clinvar
 19
splice donor/acceptor (+/-2bp)
11
clinvar
1
clinvar
 12
Total 1 1 289 132 45
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ADGRE2protein_codingprotein_codingENST00000315576 2046149
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
2.76e-280.00020012480019471257480.00378
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6544304700.9150.00002735328
Missense in Polyphen109136.430.798931742
Synonymous0.4051911980.9630.00001271616
Loss of Function0.1764344.30.9720.00000199495

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.002870.00287
Ashkenazi Jewish0.0005950.000595
East Asian0.009080.00912
Finnish0.0001850.000185
European (Non-Finnish)0.002240.00224
Middle Eastern0.009080.00912
South Asian0.01380.0139
Other0.002610.00245

dbNSFP

Source: dbNSFP

Function
FUNCTION: Cell surface receptor that binds to the chondroitin sulfate moiety of glycosaminoglycan chains and promotes cell attachment. Promotes granulocyte chemotaxis, degranulation and adhesion. In macrophages, promotes the release of inflammatory cytokines, including IL8 and TNF. Signals probably through G- proteins. Is a regulator of mast cell degranulation (PubMed:26841242). {ECO:0000269|PubMed:12829604, ECO:0000269|PubMed:17928360, ECO:0000269|PubMed:22310662, ECO:0000269|PubMed:22575658, ECO:0000269|PubMed:26841242}.;
Disease
DISEASE: Vibratory urticaria (VBU) [MIM:125630]: An autosomal dominant disorder characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum. {ECO:0000269|PubMed:26841242}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Pathway
GPCRs, Other;GPCRs, Class B Secretin-like;Signaling by GPCR;Signal Transduction;Class B/2 (Secretin family receptors);GPCR ligand binding (Consensus)

Intolerance Scores

loftool
rvis_EVS
2.36
rvis_percentile_EVS
98.44

Haploinsufficiency Scores

pHI
0.0961
hipred
N
hipred_score
0.187
ghis
0.422

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
gene_indispensability_score

Gene ontology

Biological process
inflammatory response;cell adhesion;cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;cell migration;regulation of mast cell degranulation;granulocyte chemotaxis
Cellular component
plasma membrane;integral component of plasma membrane;integral component of membrane;leading edge membrane;ruffle membrane
Molecular function
G protein-coupled receptor activity;calcium ion binding;chondroitin sulfate binding