NPFFR2

neuropeptide FF receptor 2, the group of Neuropeptide FF receptors

Basic information

Region (hg38): 4:72031901-72148305

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.

• Inborn genetic diseases (15 variants)
• not provided (4 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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			12	1	2	15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2	1	1	4
Total	0	0	14	2	3

Variants in NPFFR2

This is a list of pathogenic ClinVar variants found in the NPFFR2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
4-72031921-C-T		not specified	Likely benign (Aug 13, 2021)
4-72032006-C-G			Benign (Feb 25, 2018)
4-72032098-A-C		not specified	Uncertain significance (Jul 14, 2021)
4-72032131-A-T		not specified	Uncertain significance (Oct 22, 2021)
4-72128604-T-C		not specified	Uncertain significance (Oct 27, 2022)
4-72128735-C-G		not specified	Uncertain significance (Mar 14, 2023)
4-72128769-A-G		not specified	Uncertain significance (Sep 01, 2021)
4-72128775-G-A		not specified	Uncertain significance (Jan 03, 2024)
4-72128808-A-G			Benign (Jan 08, 2018)
4-72128916-G-A		not specified	Uncertain significance (Dec 05, 2022)
4-72138063-T-C		not specified	Uncertain significance (Jun 21, 2023)
4-72138099-G-A			Likely benign (Nov 20, 2018)
4-72146992-T-C			Benign (Dec 31, 2019)
4-72146994-T-C		not specified	Uncertain significance (Aug 02, 2022)
4-72147028-C-G		not specified	Uncertain significance (Nov 10, 2021)
4-72147100-T-G		not specified	Uncertain significance (Jan 02, 2024)
4-72147262-T-C		not specified	Uncertain significance (Oct 05, 2022)
4-72147355-A-G		not specified	Uncertain significance (Nov 13, 2023)
4-72147462-A-G		not specified	Uncertain significance (Jun 26, 2023)
4-72147477-A-T		not specified	Uncertain significance (Feb 28, 2024)
4-72147649-C-T		not specified	Uncertain significance (Sep 22, 2021)
4-72147741-A-C		not specified	Uncertain significance (Dec 23, 2022)
4-72147787-A-C		not specified	Uncertain significance (Aug 02, 2021)
4-72147800-C-G		not specified	Uncertain significance (Nov 22, 2023)

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

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