ADGRF1

protein-coding

adhesion G protein-coupled receptor F1, the group of Adhesion G protein-coupled receptors, subfamily F

Gene summary

Enables G protein-coupled receptor activity. Involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway. Is active in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:
  • GPR110

MANE transcript

NM_153840.4

Inheritance

—

ClinVar variants

U:141B:17

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.93

Max pathogenic AF

—

Genomic locus

chr6:46,997,708-47,042,350

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~44.6 kb
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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 ADGRF1 variants in ClinVar

2 Conditions Cataloged
not specifiedTotal: 143
not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_153840.4. 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
2
clinvar
2
missense
134
clinvar
16
clinvar
1
clinvar
151
nonsense
1
clinvar
1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
4
clinvar
4
Total00141161158
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 15 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_153840.4RefSeqNP_722582.214MANE Select
ENST00000371253.7EnsemblENSP00000360299.214MANE Select
NM_025048.4RefSeqNP_079324.27Standard
ENST00000283297.5EnsemblENSP00000283297.59Standard

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
  • adenylate cyclase-activating G protein-coupled receptor signaling pathway
  • synapse assembly
  • memory

Molecular Function

  • G protein-coupled receptor activity

Cellular Component

  • extracellular region
  • plasma membrane
  • integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000371253
Coding exons
14
Length
44660
Individuals with no LoFs
125596
Homozygous LoFs
0
Heterozygous LoFs
152
Defined
125748
p
0.000605
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense-0.3195034831.040.00002475942
Missense (PolyPhen)139147.570.94191916
Synonymous-1.712221921.160.00001041808
Loss of Function0.4273537.80.9250.00000175471

Population LoF Frequency

PopulationCAFp-valueStatus
African0.000740.00074rare
Latino/Admixed American0.000650.00064rare
Ashkenazi Jewish0.000200.00020rare
East Asian0.000930.00092rare
Finnish0.0000920.000092rare
European (Non-Finnish)0.000620.00061rare
South Asian0.000860.00085rare
Other0.000330.00033rare

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Orphan receptor.;

Intolerance Scores

RVIS EVS
0.7
RVIS percentile EVS
85.3

Essentials

Essential (gene trap)
N
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