NMBR

neuromedin B receptor, the group of Bombesin receptors

Basic information

Region (hg38): 6:142058329-142147122

Links

ENSG00000135577 ∙ NCBI:4829 ∙ OMIM:162341 ∙ HGNC:7843 ∙ Uniprot:P28336 ∙ 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 NMBR gene.

• Inborn genetic diseases (24 variants)
• not provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NMBR 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				3		3
missense			23	3	1	27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	23	7	1

Variants in NMBR

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

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

Position	Type	Phenotype	Significance	ClinVar
6-142075653-G-T			Benign (Apr 29, 2020)
6-142075680-C-T		not specified	Uncertain significance (May 11, 2022)
6-142075715-G-A		not specified	Uncertain significance (Mar 06, 2023)
6-142075744-C-T			Likely benign (Mar 29, 2018)
6-142075747-T-C			Likely benign (Dec 31, 2019)
6-142075790-T-G		not specified	Uncertain significance (Apr 14, 2023)
6-142075842-G-C		not specified	Uncertain significance (Jun 01, 2023)
6-142075893-G-A			Likely benign (Feb 01, 2024)
6-142075959-A-T		not specified	Uncertain significance (Nov 07, 2022)
6-142078593-T-G		not specified	Uncertain significance (Jan 02, 2024)
6-142078617-T-G		not specified	Uncertain significance (Oct 26, 2022)
6-142078620-C-T		not specified	Uncertain significance (Apr 06, 2022)
6-142078656-G-C		not specified	Uncertain significance (Apr 25, 2023)
6-142078657-T-C		not specified	Uncertain significance (May 04, 2022)
6-142078721-G-A		not specified	Uncertain significance (Sep 12, 2023)
6-142078772-G-A		not specified	Uncertain significance (May 25, 2022)
6-142078812-C-T		not specified	Uncertain significance (Nov 22, 2023)
6-142078815-A-G		not specified	Uncertain significance (Sep 01, 2021)
6-142078827-T-C			Likely benign (Jan 01, 2023)
6-142078865-G-A		not specified	Uncertain significance (Dec 21, 2022)
6-142078884-G-C		not specified	Uncertain significance (Jul 19, 2022)
6-142078892-A-G		not specified	Uncertain significance (Aug 04, 2023)
6-142088245-G-T		not specified	Uncertain significance (Oct 05, 2023)
6-142088277-C-T		not specified	Uncertain significance (Oct 17, 2023)
6-142088309-T-C		not specified	Uncertain significance (Nov 30, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NMBR	protein_coding	protein_coding	ENST00000258042	3	30470

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.98e-8	0.0748	125633	0	115	125748	0.000457

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.801	266	232	1.15	0.0000131	2551
Missense in Polyphen		96	84.48	1.1364		1010
Synonymous	-0.265	100	96.7	1.03	0.00000620	797
Loss of Function	-0.433	11	9.56	1.15	4.01e-7	133

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000607	0.000604
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.000358	0.000323
European (Non-Finnish)	0.000620	0.000598
Middle Eastern	0.000109	0.000109
South Asian	0.000594	0.000588
Other	0.00102	0.000978

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for neuromedin-B.
• Pathway: Neuroactive ligand-receptor interaction - Homo sapiens (human);Peptide GPCRs;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 (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.635
• rvis_EVS: 0.47
• rvis_percentile_EVS: 78.8

Haploinsufficiency Scores

• pHI: 0.180
• hipred: N
• hipred_score: 0.300

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.473

Gene Damage Prediction

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

Mouse Genome Informatics

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

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;phospholipase C-activating G protein-coupled receptor signaling pathway;bombesin receptor signaling pathway
• Cellular component: cytosol;plasma membrane;integral component of plasma membrane
• Molecular function: G protein-coupled receptor activity;bombesin receptor activity