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; AllianceGenome:HGNC:7939
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
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (11845709..11847783, complement)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (11389795..11391868, complement)
105.20220307	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?

Regulatory role of atrial natriuretic peptide in brown adipose tissue: A narrative review.
Title: Regulatory role of atrial natriuretic peptide in brown adipose tissue: A narrative review.
Serum Atrial Natriuretic Peptide, NPPA Promoter Methylation, and Cardiovascular Disease: A 10-year Follow-Up Study in Chinese Adults.
Title: Serum Atrial Natriuretic Peptide, NPPA Promoter Methylation, and Cardiovascular Disease: A 10-year Follow-Up Study in Chinese Adults.
NPPA Promoter Hypomethylation Predicts Central Obesity Development: A Prospective Longitudinal Study in Chinese Adults.
Title: NPPA Promoter Hypomethylation Predicts Central Obesity Development: A Prospective Longitudinal Study in Chinese Adults.
Mutant ANP induces mitochondrial and ion channel remodeling in a human iPSC-derived atrial fibrillation model.
Title: Mutant ANP induces mitochondrial and ion channel remodeling in a human iPSC-derived atrial fibrillation model.
Integrated Bioinformatics and Experimental Approaches Identified the Role of NPPA in the Proliferation and the Malignant Behavior of Breast Cancer.
Title: Integrated Bioinformatics and Experimental Approaches Identified the Role of NPPA in the Proliferation and the Malignant Behavior of Breast Cancer.
Atrial Natriuretic Peptide: Structure, Function, and Physiological Effects: A Narrative Review.
Title: Atrial Natriuretic Peptide: Structure, Function, and Physiological Effects: A Narrative Review.
Copeptin, pro-atrial natriuretic peptide and pro-adrenomedullin as markers of hypoxic stress in patients with obstructive sleep apnea-a prospective intervention study.
Title: Copeptin, pro-atrial natriuretic peptide and pro-adrenomedullin as markers of hypoxic stress in patients with obstructive sleep apnea-a prospective intervention study.
Plasma Atrial Natriuretic Peptide Responses to Salt-Loading in Salt-Sensitive and Salt-Resistant Normotensive and Hypertensive Nigerians.
Title: Plasma Atrial Natriuretic Peptide Responses to Salt-Loading in Salt-Sensitive and Salt-Resistant Normotensive and Hypertensive Nigerians.
Impact of Midregional N-Terminal Pro-Atrial Natriuretic Peptide and Soluble Suppression of Tumorigenicity 2 Levels on Heart Rhythm in Patients Treated With Catheter Ablation for Atrial Fibrillation: The Biorhythm Study.
Title: Impact of Midregional N-Terminal Pro-Atrial Natriuretic Peptide and Soluble Suppression of Tumorigenicity 2 Levels on Heart Rhythm in Patients Treated With Catheter Ablation for Atrial Fibrillation: The Biorhythm Study.
Association between NPPA promoter methylation and hypertension: results from Gusu cohort and replication in an independent sample.
Title: Association between NPPA promoter methylation and hypertension: results from Gusu cohort and replication in an independent sample.

Submit: New GeneRIF Correction See all GeneRIFs (216)

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

EBI GWAS Catalog

Description
Genome-wide association study identifies eight loci associated with blood pressure. EBI GWAS Catalog EBI GWAS CatalogPubMed
Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry. 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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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: 352 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 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 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 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 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 muscle stretch	TAS Traceable Author Statement more info	PubMed
involved_in sodium ion export across plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in vasodilation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
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
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in perikaryon	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; 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.