ADGRE3
protein-codingadhesion G protein-coupled receptor E3, the group of Adhesion G protein-coupled receptors, subfamily E
Gene summary
This gene encodes a member of the class B seven-span transmembrane (TM7) receptor family expressed predominantly by cells of the immune system. Family members are characterized by an extended extracellular region with a variable number of N-terminal epidermal growth factor (EGF)-like domains coupled to a TM7 domain via a mucin-like spacer domain. This gene is closely linked to the gene encoding egf-like molecule containing mucin-like hormone receptor 2 on chromosome 19. This protein may play a role in myeloid-myeloid interactions during immune and inflammatory responses. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2014]
- EMR3
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~90.9 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to ADGRE3 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_032571.5. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 88 | 11 | 99 | |||
| nonsense | 2 | 2 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 92 | 11 | 0 | 103 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_115960.2 | 16 | MANE Select | |
| Ensembl | ENSP00000253673.4 | 16 | MANE Select | |
| RefSeq | NP_001276087.1 | 15 | Standard | |
| RefSeq | NP_001276088.1 | 13 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- GPCRs, Other
- Signaling by GPCR
- Neutrophil degranulation
- Signal Transduction
- Innate Immune System
Biological Process
- cell surface receptor signaling pathway
- G protein-coupled receptor signaling pathway
- adenylate cyclase-activating G protein-coupled receptor signaling pathway
- neutrophil degranulation
Molecular Function
- G protein-coupled receptor activity
- calcium ion binding
Cellular Component
- extracellular region
- plasma membrane
- integral component of plasma membrane
- integral component of membrane
- secretory granule membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000253673
- Coding exons
- 16
- Length
- 70911
- Individuals with no LoFs
- 125561
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 186
- Defined
- 125747
- p
- 0.000740
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.710 | 308 | 345 | 0.892 | 0.0000176 | 4264 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00019 | 0.00018 | rare |
| Latino/Admixed American | 0.00056 | 0.00055 | rare |
| Ashkenazi Jewish | 0.000099 | 0.000099 | rare |
| East Asian | 0.00028 | 0.00027 | rare |
| Finnish | 0.00046 | 0.00046 | rare |
| European (Non-Finnish) | 0.00091 | 0.00090 | rare |
| South Asian | 0.0013 | 0.0012 | notable |
| Other | 0.0013 | 0.0013 | notable |
dbNSFP Gene Annotations
Source:
- 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}.;
Intolerance Scores
- RVIS EVS
- 1.22
- RVIS percentile EVS
- 93.24
Essentials
- Essential (gene trap)
- N