NMUR2

neuromedin U receptor 2, the group of Neuromedin U receptors

Basic information

Region (hg38): 5:152391545-152433368

Previous symbols: [ "NMU2R" ]

Links

ENSG00000132911 ∙ NCBI:56923 ∙ OMIM:605108 ∙ HGNC:16454 ∙ Uniprot:Q9GZQ4 ∙ 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 NMUR2 gene.

• Inborn genetic diseases (13 variants)
• not provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NMUR2 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				1	2	3
missense			11	1		12
nonsense						0
start loss						0
frameshift				1		1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	3	2

Variants in NMUR2

This is a list of pathogenic ClinVar variants found in the NMUR2 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-152392243-C-G		not specified	Likely benign (Jan 08, 2024)
5-152392285-T-C		not specified	Uncertain significance (Jan 23, 2023)
5-152392337-C-G		not specified	Likely benign (Jun 10, 2022)
5-152392442-G-A		not specified	Uncertain significance (Jul 20, 2021)
5-152392467-G-T			Benign (Dec 31, 2019)
5-152395471-G-A		not specified	Uncertain significance (Jul 26, 2021)
5-152395580-G-A			Benign (Feb 08, 2018)
5-152395583-A-C		not specified	Uncertain significance (May 03, 2023)
5-152398062-A-G		not specified	Uncertain significance (May 01, 2022)
5-152398090-G-T		not specified	Uncertain significance (Aug 23, 2021)
5-152404630-G-A		not specified	Uncertain significance (Aug 04, 2023)
5-152404651-T-C		not specified	Conflicting classifications of pathogenicity (Sep 27, 2022)
5-152404655-GCGGAA-G			Likely benign (Oct 24, 2018)
5-152404678-C-G		not specified	Uncertain significance (Jan 29, 2024)
5-152404696-C-A		not specified	Uncertain significance (Jan 22, 2024)
5-152404728-A-G		not specified	Uncertain significance (Dec 07, 2021)
5-152404743-G-A		not specified	Uncertain significance (Apr 18, 2023)
5-152404746-G-A		not specified	Uncertain significance (Feb 02, 2024)
5-152404761-C-T		not specified	Uncertain significance (Nov 30, 2022)
5-152404835-C-T			Likely benign (Dec 01, 2022)
5-152404887-A-C		not specified	Uncertain significance (Jul 15, 2021)
5-152404898-C-A		not specified	Uncertain significance (Aug 08, 2022)
5-152404932-A-G		not specified	Uncertain significance (Feb 11, 2022)
5-152404992-C-G		not specified	Uncertain significance (Sep 15, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NMUR2	protein_coding	protein_coding	ENST00000255262	4	41837

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000519	0.894	125327	1	420	125748	0.00168

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.247	255	244	1.04	0.0000144	2724
Missense in Polyphen		100	100.46	0.99538		1095
Synonymous	0.917	93	105	0.886	0.00000654	831
Loss of Function	1.44	7	12.5	0.560	6.15e-7	141

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00336	0.00336
Ashkenazi Jewish	0.00	0.00
East Asian	0.0157	0.0157
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000616	0.0000615
Middle Eastern	0.0157	0.0157
South Asian	0.00180	0.00180
Other	0.00131	0.00130

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for the neuromedin-U and neuromedin-S neuropeptides. {ECO:0000250, ECO:0000269|PubMed:10899166}.
• 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;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.665
• rvis_EVS: 1.38
• rvis_percentile_EVS: 94.53

Haploinsufficiency Scores

• pHI: 0.116
• hipred: Y
• hipred_score: 0.504

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.378

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Nmur2
• Phenotype: homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: reduction of food intake in response to dietary excess;calcium ion transport;regulation of smooth muscle contraction;G protein-coupled receptor signaling pathway;phospholipase C-activating G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;neuropeptide signaling pathway;cell-cell signaling;central nervous system development;grooming behavior;feeding behavior;calcium-mediated signaling;ion transmembrane transport;activation of phospholipase A2 activity by calcium-mediated signaling;inositol phosphate-mediated signaling;response to pain;arachidonic acid secretion;regulation of sensory perception of pain
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: neuromedin U receptor activity;G protein-coupled receptor activity;intracellular calcium activated chloride channel activity;protein binding;GTP binding;neuromedin U binding