NPBWR2

neuropeptides B and W receptor 2, the group of Neuropeptides B and W receptors

Basic information

Region (hg38): 20:64103801-64107565

Previous symbols: [ "GPR8" ]

Links

ENSG00000125522 ∙ NCBI:2832 ∙ OMIM:600731 ∙ HGNC:4530 ∙ Uniprot:P48146 ∙ 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 NPBWR2 gene.

• Inborn genetic diseases (17 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NPBWR2 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			16	1		17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	1	0

Variants in NPBWR2

This is a list of pathogenic ClinVar variants found in the NPBWR2 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-64105883-C-T		not specified	Uncertain significance (Feb 06, 2024)
20-64105931-T-C		not specified	Uncertain significance (Apr 07, 2022)
20-64105945-C-T		not specified	Uncertain significance (Apr 28, 2022)
20-64105952-C-T		not specified	Uncertain significance (Oct 12, 2021)
20-64105975-G-A		not specified	Uncertain significance (Dec 18, 2023)
20-64105988-C-T		not specified	Uncertain significance (Aug 11, 2022)
20-64106011-G-A		not specified	Uncertain significance (Mar 16, 2022)
20-64106039-C-T		not specified	Uncertain significance (Jan 26, 2022)
20-64106113-C-T		not specified	Uncertain significance (Dec 19, 2023)
20-64106129-G-A		not specified	Uncertain significance (Sep 14, 2023)
20-64106130-G-T		not specified	Uncertain significance (Feb 26, 2024)
20-64106158-A-G		not specified	Uncertain significance (Dec 12, 2023)
20-64106222-G-A		not specified	Uncertain significance (Aug 10, 2021)
20-64106233-C-T		not specified	Uncertain significance (Jul 06, 2021)
20-64106260-T-C		not specified	Uncertain significance (Apr 20, 2023)
20-64106348-C-T		not specified	Uncertain significance (Sep 01, 2021)
20-64106351-G-A		not specified	Uncertain significance (Jan 23, 2024)
20-64106432-A-G		not specified	Uncertain significance (Nov 18, 2022)
20-64106465-C-T		not specified	Likely benign (Jul 15, 2021)
20-64106542-A-T		not specified	Uncertain significance (May 18, 2023)
20-64106548-G-A		not specified	Uncertain significance (Sep 01, 2021)
20-64106641-G-A		not specified	Uncertain significance (Oct 17, 2023)
20-64106672-C-T		not specified	Uncertain significance (Mar 29, 2023)
20-64106681-C-T		not specified	Uncertain significance (Jun 29, 2023)
20-64106713-G-A		not specified	Uncertain significance (Mar 08, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NPBWR2	protein_coding	protein_coding	ENST00000369768	1	1352

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000925	0.354	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.562	206	230	0.896	0.0000163	2124
Missense in Polyphen		45	57.481	0.78286		682
Synonymous	0.295	116	120	0.966	0.00000953	773
Loss of Function	-0.0194	6	5.95	1.01	3.40e-7	58

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Interacts specifically with a number of opioid ligands. Receptor for neuropeptides B and W, which may be involved in neuroendocrine system regulation, food intake and the organization of other signals.
• Pathway: Neuroactive ligand-receptor interaction - Homo sapiens (human);GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.147

Intolerance Scores

• loftool: 0.482
• rvis_EVS: -0.42
• rvis_percentile_EVS: 25.73

Haploinsufficiency Scores

• pHI: 0.113
• hipred: N
• hipred_score: 0.256
• ghis: 0.409

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.257

Gene Damage Prediction

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

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;neuropeptide signaling pathway;opioid receptor signaling pathway
• Cellular component: plasma membrane;integral component of plasma membrane;integral component of membrane
• Molecular function: G protein-coupled receptor activity;opioid receptor activity;protein binding;neuropeptide receptor activity;peptide binding;neuropeptide binding