ADGRF3
protein-codingadhesion G protein-coupled receptor F3, the group of Adhesion G protein-coupled receptors, subfamily F
Gene summary
Predicted to enable G protein-coupled receptor activity. Predicted to be involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]
- GPR113
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~38.6 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 ADGRF3 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001321971.2. 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 | 3 | 2 | 5 | |||
| missense | 147 | 17 | 164 | |||
| nonsense | 2 | 1 | 3 | |||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 153 | 19 | 1 | 173 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001308900.1 | 14 | MANE Select | |
| Ensembl | ENSP00000498434.1 | 14 | MANE Select | |
| RefSeq | NP_001138640.1 | 13 | Standard | |
| RefSeq | NP_001138641.1 | 13 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- cell surface receptor signaling pathway
- G protein-coupled receptor signaling pathway
Molecular Function
- G protein-coupled receptor activity
Cellular Component
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000311519
- Coding exons
- 13
- Length
- 38645
- Individuals with no LoFs
- 124642
- Homozygous LoFs
- 4
- Heterozygous LoFs
- 947
- Defined
- 125593
- p
- 0.00379
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.636 | 543 | 586 | 0.926 | 0.0000313 | 6841 |
| Missense (PolyPhen) | 151 | 160.91 | 0.93839 | 2144 | ||
| Synonymous | -0.261 | 266 | 261 | 1.02 | 0.0000149 | 2353 |
| Loss of Function | 0.792 | 37 | 42.6 | 0.869 | 0.00000221 | 440 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0027 | 0.0025 | notable |
| Latino/Admixed American | 0.0016 | 0.0015 | notable |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.0027 | 0.0027 | notable |
| Finnish | 0.0013 | 0.0012 | notable |
| European (Non-Finnish) | 0.0070 | 0.0064 | notable |
| South Asian | 0.0011 | 0.0011 | notable |
| Other | 0.0040 | 0.0038 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Orphan receptor.;
Recessive Scores
- pRec
- 0.0859
Intolerance Scores
- RVIS EVS
- 3.57
- RVIS percentile EVS
- 99.52
Essentials
- Essential (gene trap)
- N