NMB
protein-codingneuromedin B
Gene summary
This gene encodes a member of the bombesin-like family of neuropeptides, which negatively regulate eating behavior. The encoded protein may regulate colonic smooth muscle contraction through binding to its cognate receptor, the neuromedin B receptor (NMBR). Polymorphisms of this gene may be associated with hunger, weight gain and obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~3.4 kbGenCC 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 NMB variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_021077.4. 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 | 0 | |||||
| missense | 28 | 1 | 29 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 28 | 1 | 0 | 29 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_066563.2 | 3 | MANE Select | |
| Ensembl | ENSP00000353664.3 | 3 | MANE Select | |
| RefSeq | NP_995580.1 | 3 | Standard | |
| Ensembl | ENSP00000378089.3 | 3 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Signaling by GPCR
- Signal Transduction
- Peptide ligand-binding receptors
- Class A/1 (Rhodopsin-like receptors)
- GPCR ligand binding
Biological Process
- signal transduction
- G protein-coupled receptor signaling pathway
- positive regulation of cytosolic calcium ion concentration
- neuropeptide signaling pathway
- cell-cell signaling
Molecular Function
- hormone activity
- protein binding
- neuromedin B receptor binding
Cellular Component
- extracellular region
- neuron projection
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000394588
- Coding exons
- 3
- Length
- 3435
- Individuals with no LoFs
- 109454
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 19
- Defined
- 109473
- p
- 0.0000868
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.227 | 86 | 80.3 | 1.07 | 0.00000412 | 958 |
| Missense (PolyPhen) | 22 | 19.451 | 1.131 | 291 | ||
| Synonymous | 0.850 | 28 | 34.3 | 0.815 | 0.00000163 | 344 |
| Loss of Function | 0.832 | 3 | 5.01 | 0.599 | 2.95e-7 | 44 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.0012 | 0.0012 | notable |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0 | 0.0 | absent |
| South Asian | 0.000035 | 0.000034 | rare |
| Other | 0.00020 | 0.00019 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Stimulates smooth muscle contraction in a manner similar to that of bombesin.;
Intolerance Scores
- LoFtool
- 0.596
- RVIS EVS
- 0.41
- RVIS percentile EVS
- 76.67
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.594
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |