ADGRF5

Chr 6

adhesion G protein-coupled receptor F5

Also known as: GPR116, KPG_001

NCBI Gene: 221395ENSG00000069122UniProt: Q8IZF2

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]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
15
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.40
LOEUF
GOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.40LOEUF
pLI 0.024
Z-score 5.22
OE 0.26 (0.17–0.40)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.63Z-score
OE missense 0.93 (0.88–0.99)
677 obs / 725.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.26 (0.17–0.40)
0≤0.351.4
Missense OE?0.93 (0.88–0.99)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 15 / 57.8Missense obs/exp: 677 / 725.1Syn Z: -0.52

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

ADGRF5 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients