NMUR1

neuromedin U receptor 1, the group of Neuromedin U receptors

Basic information

Region (hg38): 2:231523187-231530445

Previous symbols: [ "GPR66" ]

Links

ENSG00000171596 ∙ NCBI:10316 ∙ OMIM:604153 ∙ HGNC:4518 ∙ Uniprot:Q9HB89 ∙ 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 NMUR1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NMUR1 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				3	3	6
missense			45	4	1	50
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	45	7	4

Variants in NMUR1

This is a list of pathogenic ClinVar variants found in the NMUR1 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-231525081-C-G		not specified	Uncertain significance (Nov 10, 2024)
2-231525081-C-T		not specified	Uncertain significance (May 12, 2024)
2-231525102-C-A		not specified	Uncertain significance (Dec 06, 2021)
2-231525102-C-T		not specified	Uncertain significance (Dec 10, 2024)
2-231525108-T-C		not specified	Uncertain significance (Apr 08, 2024)
2-231525134-G-A		not specified	Uncertain significance (Jun 19, 2024)
2-231525134-G-T		not specified	Uncertain significance (Dec 13, 2022)
2-231525154-G-C		not specified	Uncertain significance (Jul 25, 2023)
2-231525185-A-C		not specified	Uncertain significance (Mar 23, 2023)
2-231525188-C-T		not specified	Uncertain significance (May 29, 2024)
2-231525203-C-G		not specified	Uncertain significance (Oct 12, 2024)
2-231525205-G-A			Benign (Apr 26, 2018)
2-231525222-G-C		not specified	Uncertain significance (Oct 01, 2024)
2-231525240-G-A		not specified	Uncertain significance (Feb 22, 2025)
2-231525245-G-A		not specified	Uncertain significance (Dec 05, 2024)
2-231525248-A-G		not specified	Uncertain significance (Oct 29, 2021)
2-231525257-T-C		not specified	Uncertain significance (Nov 25, 2024)
2-231525278-G-A		not specified	Uncertain significance (Jan 20, 2025)
2-231525287-T-C		not specified	Uncertain significance (Jan 22, 2025)
2-231525300-C-T		not specified	Uncertain significance (Jun 21, 2021)
2-231525301-G-A			Likely benign (May 01, 2022)
2-231525320-T-C		not specified	Uncertain significance (Jan 10, 2023)
2-231525338-C-T		not specified	Uncertain significance (Jul 30, 2023)
2-231525374-C-T		not specified	Uncertain significance (Aug 28, 2023)
2-231528157-G-A			Likely benign (May 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NMUR1	protein_coding	protein_coding	ENST00000305141	3	7336

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000504	0.684	125604	0	143	125747	0.000569

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.232	272	283	0.961	0.0000185	2729
Missense in Polyphen		96	104.48	0.91881		1071
Synonymous	-0.608	137	128	1.07	0.00000859	960
Loss of Function	0.928	8	11.4	0.703	6.56e-7	112

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000338	0.000336
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000545	0.0000544
Finnish	0.00513	0.00514
European (Non-Finnish)	0.000153	0.000149
Middle Eastern	0.0000545	0.0000544
South Asian	0.000131	0.000131
Other	0.000489	0.000489

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)

Intolerance Scores

• loftool: 0.575
• rvis_EVS: 0.27
• rvis_percentile_EVS: 70.58

Haploinsufficiency Scores

• pHI: 0.109
• hipred: N
• hipred_score: 0.215
• ghis: 0.471

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.874

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Nmur1
• 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); homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); normal phenotype; limbs/digits/tail phenotype; skeleton phenotype

Zebrafish Information Network

• Gene name: nmur1a
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: decreased weight

Gene ontology

• Biological process: calcium ion transport;chloride transport;smooth muscle contraction;G protein-coupled receptor signaling pathway;phospholipase C-activating G protein-coupled receptor signaling pathway;activation of phospholipase C activity;neuropeptide signaling pathway;calcium-mediated signaling;inositol phosphate-mediated signaling
• Cellular component: plasma membrane;integral component of plasma membrane;integral component of membrane
• Molecular function: neuromedin U receptor activity;G protein-coupled receptor activity;neuropeptide receptor activity;neuromedin U binding