NMBR

protein-coding

neuromedin B receptor, the group of Bombesin receptors

Gene summary

This gene encodes a 7-transmembrane G protein-coupled receptor that binds neuromedin B, which is a growth factor and mitogen for gastrointestinal epithelial tissue and for normal and neoplastic lung. This receptor may play a role in smooth muscle contraction, neuronal responses, and the regulation of cell growth. Antagonists of this receptor have a potential therapeutic use in inhibiting tumor cell growth. Polymorphisms in this gene may be associated with a susceptibility for schizophrenia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]

MANE transcript

NM_002511.4

Inheritance

—

ClinVar variants

U:59B:8

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.15

Max pathogenic AF

—

Genomic locus

chr6:142,058,330-142,147,122

External References & Databases

Ensembl (ENSG00000135577)

Transcript & Mutation Effects

hg38 • Region Span ~88.8 kb

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GenCC 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 NMBR variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 61

not providedTotal: 7

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_002511.4. 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				3 clinvar		3
missense			59 clinvar	5 clinvar		64
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	59	8	0	67

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 4 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_002511.4	RefSeq	NP_002502.2	3	MANE Select
ENST00000258042.2	Ensembl	ENSP00000258042.1	3	MANE Select
NM_001324307.2	RefSeq	NP_001311236.1	2	Standard
NM_001324308.2	RefSeq	NP_001311237.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Neuroactive ligand-receptor interaction - Homo sapiens (human)
Peptide GPCRs
GPCRs, Class A Rhodopsin-like
Signaling by GPCR
Signal Transduction

Biological Process

G protein-coupled receptor signaling pathway
phospholipase C-activating G protein-coupled receptor signaling pathway
bombesin receptor signaling pathway

Molecular Function

G protein-coupled receptor activity
bombesin receptor activity

Cellular Component

cytosol
plasma membrane
integral component of plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000258042
Coding exons: 3
Length: 30470
Individuals with no LoFs: 125633
Homozygous LoFs: 0
Heterozygous LoFs: 115
Defined: 125748
p: 0.000457

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.801	266	232	1.15	0.0000131	2551
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00037	0.00037	rare
Latino/Admixed American	0.00024	0.00023	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0.00036	0.00032	rare
European (Non-Finnish)	0.00062	0.00060	rare
South Asian	0.00059	0.00059	rare
Other	0.0010	0.00098	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Receptor for neuromedin-B.;

Recessive Scores

pRec: 0.104

Intolerance Scores

LoFtool: 0.635
RVIS EVS: 0.47
RVIS percentile EVS: 78.8

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.473

Gene Damage Prediction

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