ADGRF5
protein-codingadhesion G protein-coupled receptor F5, the group of I-set domain containing|Immunoglobulin like domain containing|Adhesion G protein-coupled receptors, subfamily F
Gene summary
Predicted to enable G protein-coupled receptor activity. Predicted to be involved in several processes, including adenylate cyclase-activating G protein-coupled receptor signaling pathway; glucose homeostasis; and surfactant homeostasis. Predicted to act upstream of or within several processes, including glomerular filtration; negative regulation of macrophage activation; and pharyngeal arch artery morphogenesis. Located in cell surface and cytoplasmic vesicle. [provided by Alliance of Genome Resources, Jun 2026]
- GPR116
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~102.4 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 ADGRF5 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001098518.2. 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 | 1 | 4 | |||
| missense | 169 | 14 | 183 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 175 | 15 | 0 | 190 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001091988.1 | 20 | MANE Select | |
| Ensembl | ENSP00000283296.7 | 20 | MANE Select | |
| RefSeq | NP_056049.4 | 20 | Standard | |
| Ensembl | ENSP00000265417.6 | 20 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- GPCRs, Other
Biological Process
- glomerular filtration
- energy reserve metabolic process
- cell surface receptor signaling pathway
- G protein-coupled receptor signaling pathway
- glucose homeostasis
Molecular Function
- G protein-coupled receptor activity
Cellular Component
- plasma membrane
- cell surface
- integral component of membrane
- cytoplasmic vesicle
- apical part of cell
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000283296
- Coding exons
- 20
- Length
- 102432
- Individuals with no LoFs
- 125713
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 35
- Defined
- 125748
- p
- 0.000139
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.635 | 677 | 725 | 0.934 | 0.0000370 | 8882 |
| Missense (PolyPhen) | 167 | 233.49 | 0.71524 | 3005 | ||
| Synonymous | -0.517 | 292 | 281 | 1.04 | 0.0000160 | 2588 |
| Loss of Function | 5.22 | 15 | 57.8 | 0.260 | 0.00000257 | 714 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00012 | 0.00012 | rare |
| Latino/Admixed American | 0.00012 | 0.00012 | rare |
| Ashkenazi Jewish | 0.00040 | 0.00040 | rare |
| East Asian | 0.000054 | 0.000054 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00017 | 0.00017 | rare |
| South Asian | 0.00017 | 0.00016 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Receptor that plays a critical role in lung surfactant homeostasis. May play a role in controlling adipocyte function. {ECO:0000250|UniProtKB:G5E8Q8}.;
Recessive Scores
- pRec
- 0.0966
Intolerance Scores
- RVIS EVS
- -0.74
- RVIS percentile EVS
- 13.8
Essentials
- Essential (gene trap)
- N