ADGRF3

protein-coding

adhesion 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]

Previous symbols:
  • GPR113

MANE transcript

NM_001321971.2

Inheritance

—

ClinVar variants

U:153B:20

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.87

Max pathogenic AF

—

Genomic locus

chr2:26,308,173-26,346,817

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~38.6 kb
Loading mutation effect viewer...

GenCC 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

2 Conditions Cataloged
not specifiedTotal: 182
not providedTotal: 5

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.

EffectPLPVUSLBBSum
synonymous
3
clinvar
2
clinvar
5
missense
147
clinvar
17
clinvar
164
nonsense
2
clinvar
1
clinvar
3
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
1
clinvar
1
Total00153191173
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 21 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_001321971.2RefSeqNP_001308900.114MANE Select
ENST00000651242.2EnsemblENSP00000498434.114MANE Select
NM_001145168.1RefSeqNP_001138640.113Standard
NM_001145169.1RefSeqNP_001138641.113Standard

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: gnomAD

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-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense0.6365435860.9260.00003136841
Missense (PolyPhen)151160.910.938392144
Synonymous-0.2612662611.020.00001492353
Loss of Function0.7923742.60.8690.00000221440

Population LoF Frequency

PopulationCAFp-valueStatus
African0.00270.0025notable
Latino/Admixed American0.00160.0015notable
Ashkenazi Jewish00.0absent
East Asian0.00270.0027notable
Finnish0.00130.0012notable
European (Non-Finnish)0.00700.0064notable
South Asian0.00110.0011notable
Other0.00400.0038notable

dbNSFP Gene Annotations

Source: dbNSFP

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
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