NMUR2
Basic information
Region (hg38): 5:152391546-152433368
Previous symbols: [ "NMU2R" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (48 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. These statistics are base on transcript: NM_000020167.5. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 3 | |||||
| missense | 45 | 48 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 45 | 5 | 2 |
GnomAD
Source:
| 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:
- 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
- ghis
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