QRFPR

protein-coding

pyroglutamylated RFamide peptide receptor, the group of Peptide receptors

Gene summary

Enables G protein-coupled receptor activity. Involved in G protein-coupled receptor signaling pathway. Predicted to be located in non-motile cilium. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

GPR103

MANE transcript

NM_198179.3

Inheritance

—

ClinVar variants

U:61

Top phenotype

Gestational diabetes mellitus uncontrolled

gnomAD constraint

pLI —, LoF o/e 0.95

Max pathogenic AF

—

Genomic locus

chr4:121,328,642-121,381,059

External References & Databases

Ensembl (ENSG00000186867)

Transcript & Mutation Effects

hg38 • Region Span ~52.4 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 QRFPR variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 57

not providedTotal: 3

Gestational diabetes mellitus uncontrolledTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_198179.3. 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			1 clinvar			1
missense			59 clinvar			59
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	61	0	0	61

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 11 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_198179.3	RefSeq	NP_937822.2	6	MANE Select
ENST00000394427.3	Ensembl	ENSP00000377948.2	6	MANE Select
ENST00000334383.10	Ensembl	ENSP00000335610.5	5	Standard
ENST00000334383.9	Ensembl	ENSP00000335610.5	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Signaling by GPCR
Signal Transduction
Orexin and neuropeptides FF and QRFP bind to their respective receptors
Peptide ligand-binding receptors
Class A/1 (Rhodopsin-like receptors)

Biological Process

G protein-coupled receptor signaling pathway
neuropeptide signaling pathway

Molecular Function

G protein-coupled receptor activity
neuropeptide Y receptor activity

Cellular Component

plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000394427
Coding exons: 6
Length: 51748
Individuals with no LoFs: 125433
Homozygous LoFs: 2
Heterozygous LoFs: 313
Defined: 125748
p: 0.00125

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.157	226	233	0.971	0.0000106	2828
Missense (PolyPhen)		34	40.614	0.83715		531
Synonymous	-0.588	93	86.1	1.08	0.00000391	834
Loss of Function	0.174	16	16.8	0.954	9.63e-7	177

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0085	0.0084	notable
Latino/Admixed American	0.00074	0.00072	rare
Ashkenazi Jewish	0.00060	0.00060	rare
East Asian	0.00092	0.00092	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.00046	0.00044	rare
South Asian	0.0025	0.0024	notable
Other	0.00066	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Receptor for the orexigenic neuropeptide QRFP. The activity of this receptor is mediated by G proteins that modulate adenylate cyclase activity and intracellular calcium levels. {ECO:0000269|PubMed:12960173}.;

Recessive Scores

pRec: 0.0791

Intolerance Scores

LoFtool: 0.917
RVIS EVS: 1.62
RVIS percentile EVS: 96

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.000827

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	High	Medium	High
Cancer	High	High	High