NPPA natriuretic peptide A [Homo sapiens (human)] - Gene

Summary

Official Symbol: NPPAprovided by HGNC
Official Full Name: natriuretic peptide Aprovided by HGNC
Primary source: HGNC:HGNC:7939
See related: Ensembl:ENSG00000175206 MIM:108780
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: ANF; ANP; CDD; CDP; PND; ATFB6; ATRST2; CDD-ANF
Summary: The protein encoded by this gene belongs to the natriuretic peptide family. Natriuretic peptides are implicated in the control of extracellular fluid volume and electrolyte homeostasis. This protein is synthesized as a large precursor (containing a signal peptide), which is processed to release a peptide from the N-terminus with similarity to vasoactive peptide, cardiodilatin, and another peptide from the C-terminus with natriuretic-diuretic activity. Mutations in this gene have been associated with atrial fibrillation familial type 6. This gene is located adjacent to another member of the natriuretic family of peptides on chromosome 1. [provided by RefSeq, Oct 2015]
Expression: Restricted expression toward heart (RPKM 12159.5) See more
Orthologs: mouse all

Genomic context

Location:: 1p36.22

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
109.20200228	current	GRCh38.p13 (GCF_000001405.39)	1	NC_000001.11 (11845709..11847783, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (11905766..11907840, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

ANP O-glycosylation attenuates acute renal and cardiovascular ANP actions.
Title: Discovery of <i>O</i>-glycans on atrial natriuretic peptide (ANP) that affect both its proteolytic degradation and potency at its cognate receptor.
Atrial natriuretic peptide (ANP) is a cardiac hormone with pleiotropic cardiovascular and metabolic properties including vasodilation, natriuresis and suppression of the renin-angiotensin-aldosterone system. Moreover, ANP induces lipolysis, lipid oxidation, adipocyte browning and ameliorates insulin sensitivity. [review]
Title: Atrial Natriuretic Peptide: A Molecular Target of Novel Therapeutic Approaches to Cardio-Metabolic Disease.
Exercise-induced secretion of ANP may be used to predict the presence of left atrial low-voltage areas in patients with persistent atrial fibrillation before catheter ablation.
Title: Predictive value of exercise-induced atrial natriuretic peptide secretion for the presence of left atrial low-voltage areas in patients with persistent atrial fibrillation.
NT-proANP and NT-proBNP show different sensitivity for phenotypes of atrial fibrillation progression
Title: Role of NT-proANP and NT-proBNP in patients with atrial fibrillation: Association with atrial fibrillation progression phenotypes.
pro-atrial natriuretic peptide (MR-proANP) plays an important role in many processes, including natriuresis, diuresis, and other physiological and pathophysiological pathways in the human body.
Title: Midregional pro-atrial natriuretic peptide, an important member of the natriuretic peptide family: potential role in diagnosis and prognosis of cardiovascular disease.
Observed increased residual platelet reactivity exclusively in diabetic carriers of the T2238C ANP variant undergoing elective PCI, suggesting the need of a more effective platelet inhibition in this category of patients.
Title: T2238C Atrial Natriuretic Peptide Gene Variant and the Response to Antiplatelet Therapy in Stable Ischemic Heart Disease Patients.
platelet aggregation resulted to be higher in patients with atrial fibrillation carrying the C2238 ANP gene variant with respect to non-carriers. In conclusions, C2238/alphaANP promotes platelet aggregation through the activation of Nox2 and the reduction of cAMP.
Title: C2238 ANP gene variant promotes increased platelet aggregation through the activation of Nox2 and the reduction of cAMP.
The results of our study demonstrated that the effect of NPPA SNPs rs5063 and rs198358 on central obesity might be modified by smoking in the Chinese Han population.
Title: Smoking modifies the effect of two independent SNPs rs5063 and rs198358 of NPPA on central obesity in the Chinese Han population.
Upon cardiac stress, Nppa and Nppb are strongly upregulated in the ventricular myocardium. (Review)
Title: Structure and function of the Nppa-Nppb cluster locus during heart development and disease.
Suggest that pro-ANP/corin/NPR-C signaling is dominant in the vascular system in preeclampsia.
Title: Aberrant pro-atrial natriuretic peptide/corin/natriuretic peptide receptor signaling is present in maternal vascular endothelium in preeclampsia.

Submit: New GeneRIF Correction See all GeneRIFs (192)

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

Associated conditions

Description	Tests
Atrial fibrillation, familial, 6 MedGen: C2677294 OMIM: 612201 GeneReviews: Not available	Compare labs
Atrial standstill 2 MedGen: C3810401 OMIM: 615745 GeneReviews: Not available	Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies eight loci associated with blood pressure. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry. NHGRI GWA Catalog NHGRI GWA 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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Markers

NPPA (e-PCR)
- UniSTS:253991

SHGC-74238 (e-PCR)
- UniSTS:43068

GDB:226664 (e-PCR)
- UniSTS:156242

RH80468 (e-PCR)
- UniSTS:87961

GDB:196313 (e-PCR)
- UniSTS:155824

GDB:549199 (e-PCR)
- UniSTS:157630

Nppa (e-PCR), detects polymorphism
- UniSTS:167638

Homology

Homologs of the NPPA gene: The NPPA gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat.
Orthologs from Annotation Pipeline: 222 organisms have orthologs with human gene NPPA
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
hormone activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
hormone receptor binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
hormone receptor binding	IPI Inferred from Physical Interaction more info	PubMed
neuropeptide hormone activity	IMP Inferred from Mutant Phenotype more info	PubMed
neuropeptide receptor binding	IMP Inferred from Mutant Phenotype more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
signaling receptor binding	IDA Inferred from Direct Assay more info	PubMed
signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
cGMP biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cGMP biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
cGMP-mediated signaling	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cardiac muscle hypertrophy in response to stress	IEA Inferred from Electronic Annotation more info
cell growth involved in cardiac muscle cell development	IEA Inferred from Electronic Annotation more info
cellular protein metabolic process	TAS Traceable Author Statement more info
cellular response to mechanical stimulus	IEA Inferred from Electronic Annotation more info
female pregnancy	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of JUN kinase activity	IDA Inferred from Direct Assay more info	PubMed
negative regulation of cell growth	IEA Inferred from Electronic Annotation more info
negative regulation of collecting lymphatic vessel constriction	IEA Inferred from Electronic Annotation more info
negative regulation of systemic arterial blood pressure	IBA Inferred from Biological aspect of Ancestor more info	PubMed
neuropeptide signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
neuropeptide signaling pathway	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cGMP-mediated signaling	IEA Inferred from Electronic Annotation more info
positive regulation of cardiac muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of delayed rectifier potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of heart rate	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of histamine secretion by mast cell	IEA Inferred from Electronic Annotation more info
positive regulation of potassium ion export across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
protein folding	IDA Inferred from Direct Assay more info	PubMed
receptor guanylyl cyclase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
receptor guanylyl cyclase signaling pathway	IDA Inferred from Direct Assay more info	PubMed
regulation of atrial cardiac muscle cell membrane repolarization	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of blood pressure	IDA Inferred from Direct Assay more info	PubMed
regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	ISS Inferred from Sequence or Structural Similarity more info	PubMed
regulation of cardiac conduction	TAS Traceable Author Statement more info
regulation of high voltage-gated calcium channel activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
response to hypoxia	IEA Inferred from Electronic Annotation more info
response to insulin	IEA Inferred from Electronic Annotation more info
response to muscle stretch	TAS Traceable Author Statement more info	PubMed
transcription initiation from RNA polymerase II promoter	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
brush border	IEA Inferred from Electronic Annotation more info
collagen-containing extracellular matrix	HDA more info	PubMed
cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
extracellular region	NAS Non-traceable Author Statement more info	PubMed
extracellular region	TAS Traceable Author Statement more info
extracellular space	IBA Inferred from Biological aspect of Ancestor more info	PubMed
mast cell granule	IEA Inferred from Electronic Annotation more info
nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: natriuretic peptides A

Names: atrial natriuretic factor prohormone; atrial natriuretic peptide prohormone; atriopeptigen; atriopeptin; cardiodilatin-related peptide; cardionatrin; natriuretic peptide precursor A variant 1; preproANP; preproCDD-ANF; prepronatriodilatin; proANF; proANP

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.