NMUR2

protein-coding

neuromedin U receptor 2, the group of Neuromedin U receptors

Gene summary

This gene encodes a protein from the G-protein coupled receptor 1 family. This protein is a receptor for neuromedin U, which is a neuropeptide that is widely distributed in the gut and central nervous system. This receptor plays an important role in the regulation of food intake and body weight. [provided by RefSeq, Jul 2008]

Previous symbols:

NMU2R

MANE transcript

NM_020167.5

Inheritance

—

ClinVar variants

U:52B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.56

Max pathogenic AF

—

Genomic locus

chr5:152,391,546-152,433,368

External References & Databases

Ensembl (ENSG00000132911)

Transcript & Mutation Effects

hg38 • Region Span ~41.8 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 NMUR2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 53

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_020167.5. 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				1 clinvar	2 clinvar	3
missense			52 clinvar	3 clinvar		55
nonsense						0
start loss						0
frameshift				1 clinvar		1
splice donor/acceptor (+/-2bp)						0
Total	0	0	52	5	2	59

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 4 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_020167.5	RefSeq	NP_064552.3	4	MANE Select
ENST00000255262.4	Ensembl	ENSP00000255262.4	4	MANE Select
ENST00000916655.1	Ensembl	ENSP00000586714.1	4	Standard
ENST00001133572.1	Ensembl	ENSP00000802776.1	4	Standard

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

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

Molecular Function

neuromedin U receptor activity
G protein-coupled receptor activity
intracellular calcium activated chloride channel activity
protein binding
GTP binding

Cellular Component

plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000255262
Coding exons: 4
Length: 41837
Individuals with no LoFs: 125327
Homozygous LoFs: 1
Heterozygous LoFs: 420
Defined: 125748
p: 0.00168

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.247	255	244	1.04	0.0000144	2724
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0029	0.0029	notable
Latino/Admixed American	0.00046	0.00046	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.016	0.016	notable
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000062	0.000062	rare
South Asian	0.0018	0.0018	notable
Other	0.0013	0.0013	notable

dbNSFP Gene Annotations

Source: dbNSFP

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

Recessive Scores

pRec: 0.104

Intolerance Scores

LoFtool: 0.665
RVIS EVS: 1.38
RVIS percentile EVS: 94.53

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.378

Gene Damage Prediction

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