NMU

neuromedin U, the group of Neuropeptides

Basic information

Region (hg38): 4:55595229-55636698

Links

ENSG00000109255 ∙ NCBI:10874 ∙ OMIM:605103 ∙ HGNC:7859 ∙ Uniprot:P48645 ∙ 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 NMU gene.

Variants pathogenicity by type

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

Variants in NMU

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

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

Position	Type	Phenotype	Significance	ClinVar
4-55599181-G-T		not specified	Uncertain significance (May 25, 2022)
4-55600541-C-T		not specified	Uncertain significance (Nov 06, 2023)
4-55605277-C-T		not specified	Uncertain significance (Mar 04, 2024)
4-55605336-T-A		not specified	Uncertain significance (Feb 05, 2024)
4-55605348-G-A		not specified	Uncertain significance (Jul 20, 2021)
4-55616385-T-G		not specified	Uncertain significance (Apr 18, 2023)
4-55630446-G-T		not specified	Uncertain significance (Jan 18, 2023)
4-55636083-C-T		not specified	Uncertain significance (Sep 21, 2023)
4-55636132-G-C		not specified	Uncertain significance (Oct 03, 2023)
4-55636155-G-A		not specified	Uncertain significance (Sep 26, 2023)
4-55636185-C-A		not specified	Uncertain significance (Aug 22, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NMU	protein_coding	protein_coding	ENST00000264218	9	41470

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000415	0.964	125698	0	50	125748	0.000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0714	85	86.9	0.978	0.00000446	1099
Missense in Polyphen		18	19.301	0.9326		255
Synonymous	0.757	29	34.7	0.836	0.00000186	324
Loss of Function	1.87	8	16.1	0.497	8.52e-7	173

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.000217	0.000217
Finnish	0.000878	0.000878
European (Non-Finnish)	0.000176	0.000176
Middle Eastern	0.000217	0.000217
South Asian	0.00	0.00
Other	0.000652	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Stimulates muscle contractions of specific regions of the gastrointestinal tract. In humans, NmU stimulates contractions of the ileum and urinary bladder.
• Pathway: 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: 0.649
• rvis_EVS: 0.48
• rvis_percentile_EVS: 79.04

Haploinsufficiency Scores

• pHI: 0.416
• hipred: N
• hipred_score: 0.243

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.277

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Nmu
• Phenotype: growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue 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); liver/biliary system phenotype; immune system phenotype

Zebrafish Information Network

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

Gene ontology

• Biological process: temperature homeostasis;gastric acid secretion;G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;neuropeptide signaling pathway;photoperiodism;positive regulation of heart rate;sensory perception of pain;positive regulation of heat generation;eating behavior;positive regulation of blood pressure in other organism;regulation of circadian sleep/wake cycle, sleep;positive regulation of smooth muscle contraction;positive regulation of synaptic transmission;negative regulation of gastric acid secretion;energy homeostasis;negative regulation of gastric emptying;positive regulation of stomach fundus smooth muscle contraction;positive regulation of prolactin secretion;negative regulation of eating behavior;positive regulation of sensory perception of pain;regulation of grooming behavior
• Cellular component: extracellular region;terminal bouton
• Molecular function: signaling receptor binding;protein binding;type 1 neuromedin U receptor binding;type 2 neuromedin U receptor binding;neuromedin U receptor binding