NPPB natriuretic peptide B [Homo sapiens (human)] - Gene

Summary

Official Symbol: NPPBprovided by HGNC
Official Full Name: natriuretic peptide Bprovided by HGNC
Primary source: HGNC:HGNC:7940
See related: Ensembl:ENSG00000120937 MIM:600295; AllianceGenome:HGNC:7940
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BNP; Iso-ANP
Summary: This gene is a member of the natriuretic peptide family and encodes a secreted protein which functions as a cardiac hormone. The protein undergoes two cleavage events, one within the cell and a second after secretion into the blood. The protein's biological actions include natriuresis, diuresis, vasorelaxation, inhibition of renin and aldosterone secretion, and a key role in cardiovascular homeostasis. A high concentration of this protein in the bloodstream is indicative of heart failure. The presence of myocardial injury is a significant predictor of mortality in hospitalized coronavirus disease 2019 (COVID-19) patients, and there is evidence of increased levels of natriuretic peptide B in hospitalized non-survivor COVID-19 patients. The protein also acts as an antimicrobial peptide with antibacterial and antifungal activity. Mutations in this gene have been associated with postmenopausal osteoporosis. [provided by RefSeq, Aug 2020]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for COVID-19 prognosis.
Expression: Restricted expression toward heart (RPKM 1334.9) See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.22

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (11857464..11858945, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (11401560..11403041, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (11917521..11919002, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Investigating the Role of Brain Natriuretic Peptide (BNP) and N-Terminal-proBNP in Thrombosis and Acute Ischemic Stroke Etiology.
Title: Investigating the Role of Brain Natriuretic Peptide (BNP) and N-Terminal-proBNP in Thrombosis and Acute Ischemic Stroke Etiology.
Expression of PCT, BNP and Inflammatory Factors in Children with Kawasaki Disease and Their Correlation with Coronary Artery Lesions.
Title: Expression of PCT, BNP and Inflammatory Factors in Children with Kawasaki Disease and Their Correlation with Coronary Artery Lesions.
BNP level predicts bleeding event in patients with heart failure after percutaneous coronary intervention.
Title: BNP level predicts bleeding event in patients with heart failure after percutaneous coronary intervention.
Relationship between lipid profile and B-type natriuretic peptide T-381C (rs198389) gene polymorphism in patients with stable coronary artery disease.
Title: Relationship between lipid profile and B‑type natriuretic peptide T‑381C (rs198389) gene polymorphism in patients with stable coronary artery disease.
Left Atrial Remodeling Related to Disproportionately Low B-Type Natriuretic Peptide in Acute Heart Failure Patients with Atrial Fibrillation.
Title: Left Atrial Remodeling Related to Disproportionately Low B-Type Natriuretic Peptide in Acute Heart Failure Patients with Atrial Fibrillation.
Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis.
Title: Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis.
Clinical value of combined plasma brain natriuretic peptide and serum cystatin C measurement on the prediction of heart failure in patients after acute myocardial infarction.
Title: Clinical value of combined plasma brain natriuretic peptide and serum cystatin C measurement on the prediction of heart failure in patients after acute myocardial infarction.
Aberrant expression of NPPB through YAP1 and TAZ activation in mesothelioma with Hippo pathway gene alterations.
Title: Aberrant expression of NPPB through YAP1 and TAZ activation in mesothelioma with Hippo pathway gene alterations.
Natriuretic Peptides: Role in the Diagnosis and Management of Heart Failure: A Scientific Statement From the Heart Failure Association of the European Society of Cardiology, Heart Failure Society of America and Japanese Heart Failure Society.
Title: Natriuretic Peptides: Role in the Diagnosis and Management of Heart Failure: A Scientific Statement From the Heart Failure Association of the European Society of Cardiology, Heart Failure Society of America and Japanese Heart Failure Society.
Galectin-3, Acute Kidney Injury and Myocardial Damage in Patients With Acute Heart Failure.
Title: Galectin-3, Acute Kidney Injury and Myocardial Damage in Patients With Acute Heart Failure.

Submit: New GeneRIF Correction See all GeneRIFs (1104)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies eight loci associated with blood pressure. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables diuretic hormone activity	TAS Traceable Author Statement more info	PubMed
enables hormone activity	IBA Inferred from Biological aspect of Ancestor more info
enables hormone activity	NAS Non-traceable Author Statement more info	PubMed
enables hormone receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables hormone receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in blood vessel diameter maintenance	NAS Non-traceable Author Statement more info	PubMed
involved_in body fluid secretion	TAS Traceable Author Statement more info	PubMed
involved_in cGMP biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of cGMP biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cGMP-mediated signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in cardiac conduction system development	NAS Non-traceable Author Statement more info	PubMed
involved_in cell surface receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of angiogenesis	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of cell growth	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of systemic arterial blood pressure	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuropeptide signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of renal sodium excretion	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of urine volume	TAS Traceable Author Statement more info	PubMed
involved_in protein folding	IDA Inferred from Direct Assay more info	PubMed
involved_in receptor guanylyl cyclase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in receptor guanylyl cyclase signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of blood pressure	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of vascular permeability	TAS Traceable Author Statement more info	PubMed
involved_in vasodilation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	TAS Traceable Author Statement more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	NAS Non-traceable Author Statement more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: natriuretic peptides B

Names: brain natriuretic factor prohormone; brain type natriuretic peptide; gamma-brain natriuretic peptide; natriuretic peptide precursor B; natriuretic protein; preproBNP; proBNP

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.