BRS3

protein-coding

bombesin receptor subtype 3, the group of Bombesin receptors

Gene summary

The protein encoded by this gene is a G protein-coupled membrane receptor that binds bombesin-like peptides. This binding results in activation of a phosphatidylinositol-calcium second messenger system, with physiological effects including regulation of metabolic rate, glucose metabolism, and hypertension. [provided by RefSeq, Sep 2011]

MANE transcript

NM_001727.2

Inheritance

—

ClinVar variants

U:44B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0

Max pathogenic AF

—

Genomic locus

chrX:136,487,947-136,493,780

External References & Databases

Ensembl (ENSG00000102239)

Transcript & Mutation Effects

hg38 • Region Span ~5.8 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 BRS3 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 35

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001727.2. 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			2 clinvar	1 clinvar		3
missense			40 clinvar	3 clinvar		43
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	44	4	0	48

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001727.2	RefSeq	NP_001718.1	3	MANE Select
ENST00000370648.4	Ensembl	ENSP00000359682.3	3	MANE Select
ENST00001134388.1	Ensembl	ENSP00000809763.1	3	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

glucose metabolic process
G protein-coupled receptor signaling pathway
regulation of blood pressure
adult feeding behavior
bombesin receptor signaling pathway

Molecular Function

G protein-coupled receptor activity
bombesin receptor activity

Cellular Component

plasma membrane
integral component of plasma membrane
integral component of membrane
neuron projection
neuronal cell body

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000370648
Coding exons: 3
Length: 5894
Individuals with no LoFs: 125539
Homozygous LoFs: 1
Heterozygous LoFs: 0
Defined: 125540
p: 0.00000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.939	117	149	0.784	0.0000109	2591
Missense (PolyPhen)		33	62.234	0.53025		1132
Synonymous	-0.274	62	59.3	1.05	0.00000455	834
Loss of Function	2.83	0	9.35	0.00	7.55e-7	162

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	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0.000052	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Role in sperm cell division, maturation, or function. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system.;

Recessive Scores

pRec: 0.0878

Intolerance Scores

RVIS EVS: -0.36
RVIS percentile EVS: 28.63

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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