ADGRG3
protein-codingadhesion G protein-coupled receptor G3, the group of Adhesion G protein-coupled receptors, subfamily G
Gene summary
Enables G protein-coupled receptor activity. Involved in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway and regulation of cell migration. Located in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]
- GPR97
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~21.1 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 ADGRG3 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_170776.5. 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 | 2 | |||
| missense | 90 | 12 | 102 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 91 | 13 | 0 | 104 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_740746.4 | 12 | MANE Select | |
| Ensembl | ENSP00000332900.4 | 12 | MANE Select | |
| RefSeq | NP_001295289.1 | 9 | Standard | |
| Ensembl | ENSP00000404803.3 | 9 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Neutrophil degranulation
- Innate Immune System
- Immune System
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
Molecular Function
- G protein-coupled receptor activity
Cellular Component
- plasma membrane
- integral component of plasma membrane
- integral component of membrane
- specific granule membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000333493
- Coding exons
- 12
- Length
- 21877
- Individuals with no LoFs
- 125592
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 156
- Defined
- 125748
- p
- 0.000620
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.340 | 309 | 326 | 0.947 | 0.0000191 | 3549 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0022 | 0.0022 | notable |
| Latino/Admixed American | 0.00026 | 0.00026 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.0025 | 0.0025 | notable |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00047 | 0.00046 | rare |
| South Asian | 0.00036 | 0.00036 | rare |
| Other | 0.00049 | 0.00049 | rare |
dbNSFP Gene Annotations
Source:
- 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}.;
Recessive Scores
- pRec
- 0.0941
Intolerance Scores
- RVIS EVS
- -0.11
- RVIS percentile EVS
- 45.57
Essentials
- Essential (gene trap)
- N