NMB

neuromedin B

Basic information

Region (hg38): 15:84655128-84658563

Links

ENSG00000197696 ∙ NCBI:4828 ∙ OMIM:162340 ∙ HGNC:7842 ∙ Uniprot:P08949 ∙ 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 NMB gene.

• Inborn genetic diseases (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NMB 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			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	0

Variants in NMB

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

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

Position	Type	Phenotype	Significance	ClinVar
15-84655337-T-A		not specified	Uncertain significance (Feb 13, 2024)
15-84657192-G-C		not specified	Uncertain significance (Oct 04, 2022)
15-84657276-A-G		not specified	Uncertain significance (Nov 18, 2023)
15-84657303-G-A		not specified	Likely benign (Dec 15, 2023)
15-84657306-G-A		not specified	Uncertain significance (Jul 13, 2022)
15-84657319-G-C		not specified	Uncertain significance (Sep 13, 2023)
15-84657348-C-A		not specified	Uncertain significance (May 31, 2023)
15-84658021-G-C		not specified	Uncertain significance (Jul 12, 2023)
15-84658092-C-G		not specified	Uncertain significance (Feb 17, 2024)
15-84658146-G-A		not specified	Uncertain significance (May 31, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NMB	protein_coding	protein_coding	ENST00000394588	3	3435

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0195	0.754	109454	0	19	109473	0.0000868

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.227	86	80.3	1.07	0.00000412	958
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00119	0.00115
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00119	0.00115
South Asian	0.0000347	0.0000342
Other	0.000196	0.000191

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Stimulates smooth muscle contraction in a manner similar to that of bombesin.
• Pathway: Signaling by GPCR;Signal Transduction;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Intolerance Scores

• loftool: 0.596
• rvis_EVS: 0.41
• rvis_percentile_EVS: 76.67

Haploinsufficiency Scores

• pHI: 0.309
• hipred: N
• hipred_score: 0.123
• ghis: 0.457

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.594

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Nmb
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: signal transduction;G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;neuropeptide signaling pathway;cell-cell signaling;positive regulation of cell population proliferation;regulation of signaling receptor activity;glucose homeostasis;positive regulation of hormone secretion;negative regulation of hormone secretion;arachidonic acid secretion
• Cellular component: extracellular region;neuron projection
• Molecular function: hormone activity;protein binding;neuromedin B receptor binding