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
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Genomic context

Location:: 1p36.22

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
109.20210514	current	GRCh38.p13 (GCF_000001405.39)	1	NC_000001.11 (11845709..11847783, complement)
105.20201022	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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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?

Mortality in cardiogenic shock is stronger associated to clinical factors than contemporary biomarkers reflecting neurohormonal stress and inflammatory activation.
Title: Mortality in cardiogenic shock is stronger associated to clinical factors than contemporary biomarkers reflecting neurohormonal stress and inflammatory activation.
Plasma volume contraction reduces atrial natriuretic peptide after four days of hypobaric hypoxia exposure.
Title: Plasma volume contraction reduces atrial natriuretic peptide after four days of hypobaric hypoxia exposure.
ANP and BNP Exert Anti-Inflammatory Action via NPR-1/cGMP Axis by Interfering with Canonical, Non-Canonical, and Alternative Routes of Inflammasome Activation in Human THP1 Cells.
Title: ANP and BNP Exert Anti-Inflammatory Action via NPR-1/cGMP Axis by Interfering with Canonical, Non-Canonical, and Alternative Routes of Inflammasome Activation in Human THP1 Cells.
Diagnostic utility of MR-proANP and NT-proBNP in elderly outpatients with a high risk of heart failure: the Copenhagen heart failure risk study.
Title: Diagnostic utility of MR-proANP and NT-proBNP in elderly outpatients with a high risk of heart failure: the Copenhagen heart failure risk study.
Differential Regulation of ANP and BNP in Acute Decompensated Heart Failure: Deficiency of ANP.
Title: Differential Regulation of ANP and BNP in Acute Decompensated Heart Failure: Deficiency of ANP.
Antisense regulation of atrial natriuretic peptide expression.
Title: Antisense regulation of atrial natriuretic peptide expression.
Pro-atrial natriuretic peptide and pro-adrenomedullin before cardiac surgery in children. Can we predict the future?
Title: Pro-atrial natriuretic peptide and pro-adrenomedullin before cardiac surgery in children. Can we predict the future?
Associations among NPPA gene polymorphisms, serum ANP levels, and hypertension in the Chinese Han population.
Title: Associations among NPPA gene polymorphisms, serum ANP levels, and hypertension in the Chinese Han population.
Elevated MR-proANP plasma concentrations are associated with sepsis and predict mortality in critically ill patients.
Title: Elevated MR-proANP plasma concentrations are associated with sepsis and predict mortality in critically ill patients.
A dual luciferase reporter assay showed that both SRF mutants (G274D and G294C) impaired SRF transcriptional activity at the SRF promoter and atrial natriuretic factor (ANF) promoter (p < 0.05), additionally, the mutants displayed reduced synergism with GATA4. These results suggest that SRF-p.G274D and SRF-p.G294C may have potential pathogenic effects.
Title: Novel mutations of the SRF gene in Chinese sporadic conotruncal heart defect patients.

Submit: New GeneRIF Correction See all GeneRIFs (205)

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
Genome-wide association study identifies eight loci associated with blood pressure. GeneReviews: Not available
Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry. GeneReviews: Not available

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: 249 organisms have orthologs with human gene NPPA
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables hormone activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables hormone receptor binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables hormone receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables neuropeptide hormone activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables neuropeptide receptor binding	IMP Inferred from Mutant Phenotype 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 aortic valve morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in cGMP biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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	PubMed
involved_in cardiac conduction system development	NAS Non-traceable Author Statement more info	PubMed
involved_in cardiac muscle hypertrophy in response to stress	IEA Inferred from Electronic Annotation more info
involved_in cell growth involved in cardiac muscle cell development	IEA Inferred from Electronic Annotation more info
involved_in cellular response to mechanical stimulus	IEA Inferred from Electronic Annotation more info
involved_in female pregnancy	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of JUN kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell growth	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of collecting lymphatic vessel constriction	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of systemic arterial blood pressure	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in neuropeptide signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in neuropeptide signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cGMP-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cardiac muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of delayed rectifier potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of heart rate	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of histamine secretion by mast cell	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of potassium ion export across plasma membrane	IDA Inferred from Direct Assay 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	PubMed
involved_in receptor guanylyl cyclase signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of atrial cardiac muscle cell membrane repolarization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of blood pressure	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of high voltage-gated calcium channel activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to insulin	IEA Inferred from Electronic Annotation more info
involved_in response to muscle stretch	TAS Traceable Author Statement more info	PubMed
involved_in vasodilation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in brush border	IEA Inferred from Electronic Annotation more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in mast cell granule	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in perikaryon	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
part_of 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.