NPFFR2

neuropeptide FF receptor 2, the group of Neuropeptide FF receptors

Basic information

Region (hg38): 4:72031902-72148305

Previous symbols: [ "GPR74" ]

Links

ENSG00000056291

∙ NCBI:10886 ∙ OMIM:607449 ∙ HGNC:4525 ∙ Uniprot:Q9Y5X5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NPFFR2 gene.

not_specified (47 variants)
not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NPFFR2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004885.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			42 clinvar	4 clinvar	2 clinvar	48
nonsense						0
start loss			1			1
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	43	4	2

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NPFFR2	protein_coding	protein_coding	ENST00000308744	4	116264

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.67e-7	0.653	125515	1	232	125748	0.000927

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.17	336	281	1.20	0.0000136	3461
Missense in Polyphen		101	89.161	1.1328		1200
Synonymous	-1.62	126	105	1.20	0.00000533	992
Loss of Function	1.15	13	18.3	0.711	8.70e-7	199

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00121	0.00121
Ashkenazi Jewish	0.00239	0.00228
East Asian	0.000707	0.000707
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000964	0.000959
Middle Eastern	0.000707	0.000707
South Asian	0.00100	0.000980
Other	0.00263	0.00261

dbNSFP

Source: dbNSFP

Function: FUNCTION: Receptor for NPAF (A-18-F-amide) and NPFF (F-8-F-amide) neuropeptides, also known as morphine-modulating peptides. Can also be activated by a variety of naturally occurring or synthetic FMRF-amide like ligands. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol- calcium second messenger system.;
Pathway: Neuroactive ligand-receptor interaction - Homo sapiens (human);GPCRs, Class A Rhodopsin-like;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);GPCR ligand binding;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

pRec: 0.0777

Intolerance Scores

loftool: 0.932
rvis_EVS: 0.36
rvis_percentile_EVS: 74.63

Haploinsufficiency Scores

pHI: 0.0549
hipred: N
hipred_score: 0.144
ghis

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.0771

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Npffr2
Phenotype: cellular phenotype; hematopoietic system phenotype; immune system phenotype;

Gene ontology

Biological process: G protein-coupled receptor signaling pathway;neuropeptide signaling pathway;detection of abiotic stimulus;cellular response to hormone stimulus;regulation of MAPK cascade;regulation of adenylate cyclase activity;regulation of cAMP-dependent protein kinase activity
Cellular component: plasma membrane;integral component of plasma membrane;actin cytoskeleton
Molecular function: G protein-coupled receptor activity;neuropeptide receptor activity;opioid receptor binding