NMUR1

protein-coding

neuromedin U receptor 1, the group of Neuromedin U receptors

Gene summary

Enables neuromedin U binding activity and neuromedin U receptor activity. Involved in several processes, including calcium-mediated signaling; phospholipase C-activating G protein-coupled receptor signaling pathway; and positive regulation of calcium-mediated signaling. Located in membrane. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

GPR66

MANE transcript

NM_006056.5

Inheritance

—

ClinVar variants

U:81B:14

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.7

Max pathogenic AF

—

Genomic locus

chr2:231,523,187-231,530,445

External References & Databases

Ensembl (ENSG00000171596)

Transcript & Mutation Effects

hg38 • Region Span ~7.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to NMUR1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 86

not providedTotal: 8

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_006056.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				3 clinvar	3 clinvar	6
missense			81 clinvar	7 clinvar	1 clinvar	89
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	81	10	4	95

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 9 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_006056.5	RefSeq	NP_006047.3	3	MANE Select
ENST00000305141.5	Ensembl	ENSP00000305877.4	3	MANE Select
ENST00001124410.1	Ensembl	ENSP00000794215.1	2	Standard
ENST00001142303.1	Ensembl	ENSP00000805794.1	3	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
nmur1a	Danio rerio	Structure: whole organism Quality: decreased weight abnormal

Gene / Model

Organism

Observed Phenotype

nmur1a

Danio rerio

Structure: whole organism

Quality: decreased weight

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Neuroactive ligand-receptor interaction - Homo sapiens (human)
GPCRs, Class A Rhodopsin-like
Signaling by GPCR
Signal Transduction
Peptide ligand-binding receptors

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

Molecular Function

neuromedin U receptor activity
G protein-coupled receptor activity
neuropeptide receptor activity
neuromedin U binding

Cellular Component

plasma membrane
integral component of plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000305141
Coding exons: 3
Length: 7336
Individuals with no LoFs: 125604
Homozygous LoFs: 0
Heterozygous LoFs: 143
Defined: 125747
p: 0.000569

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.232	272	283	0.961	0.0000185	2729
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00025	0.00025	rare
Latino/Admixed American	0.000090	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000055	0.000054	rare
Finnish	0.0051	0.0051	notable
European (Non-Finnish)	0.00015	0.00015	rare
South Asian	0.00013	0.00013	rare
Other	0.00049	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Receptor for the neuromedin-U and neuromedin-S neuropeptides. {ECO:0000250, ECO:0000269|PubMed:10899166}.;

Intolerance Scores

LoFtool: 0.575
RVIS EVS: 0.27
RVIS percentile EVS: 70.58

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.874

Gene Damage Prediction

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