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NPPA Gene(Protein Coding)

Natriuretic Peptide A

GCID:
GC01M011909
GIFtS:
54
Genes Participants
UDN Logo

Aliases for NPPA Gene

Aliases for NPPA Gene

  • Natriuretic Peptide A 2 3 5
  • Cardiodilatin-Related Peptide 3 4
  • Prepronatriodilatin 3 4
  • CDD-ANF 3 4
  • ANP 3 4
  • PND 3 4
  • CDD 3 4
  • CDP 3 4
  • Natriuretic Peptide Precursor A Variant 1 3
  • Natriuretic Peptide Precursor A 2
  • Natriuretic Peptides A 3
  • Cardiodilatin 4
  • Cardionatrin 3
  • Atriopeptin 3
  • ATRST2 3
  • ATFB6 3
  • ANF 3

External Ids for NPPA Gene

Previous HGNC Symbols for NPPA Gene

  • ANP
  • PND

Previous GeneCards Identifiers for NPPA Gene

  • GC01U990120
  • GC01M011750
  • GC01M011515
  • GC01M011615
  • GC01M011840
  • GC01M011828
  • GC01M011061

Summaries for NPPA Gene

Entrez Gene Summary for NPPA Gene

  • 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]

GeneCards Summary for NPPA Gene

NPPA (Natriuretic Peptide A) is a Protein Coding gene. Diseases associated with NPPA include Atrial Standstill 2 and Atrial Fibrillation, Familial, 6. Among its related pathways are Gene Expression and BMAL1-CLOCK,NPAS2 activates circadian gene expression. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and neuropeptide hormone activity.

UniProtKB/Swiss-Prot for NPPA Gene

  • Hormone playing a key role in cardiovascular homeostasis through regulation of natriuresis, diuresis, and vasodilation. Also plays a role in female pregnancy by promoting trophoblast invasion and spiral artery remodeling in uterus. Specifically binds and stimulates the cGMP production of the NPR1 receptor. Binds the clearance receptor NPR3.

Tocris Summary for NPPA Gene

  • Natriuretic peptide (NP) receptors are single transmembrane catalytic receptors with intracellular guanylyl cyclase activity. There are three isoforms of NP receptors; NPR1-3, which have conserved catalytic and regulatory domains and divergent ligand binding domains.

Gene Wiki entry for NPPA Gene

Additional gene information for NPPA Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NPPA Gene

Genomics for NPPA Gene

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GeneHancer (GH) Regulatory Elements for NPPA Gene

Promoters and enhancers for NPPA Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J011846 Promoter/Enhancer 1.1 VISTA EPDnew 650.7 +0.6 631 1.8 POLR2A RCOR1 CHD2 ENSG00000275915 NPPA NPPA-AS1 CLCN6 MIIP
GH01J011989 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 1.9 -142.2 -142164 2.2 FOXA2 ETS1 YY1 EGR1 RXRA REST PPARG SP1 MXD3 ZBTB33 MFN2 MIIP PLOD1 KIAA2013 RNU5E-4P RNU5E-1 NPPB NPPA ENSG00000270914
GH01J011856 Enhancer 0.4 dbSUPER 0.4 -8.6 -8611 1 ZIC2 PRDM1 NPPB NPPA-AS1 RNU5E-1 RNU5E-4P LOC102724659 C1orf167 KIAA2013 MFN2 NPPA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NPPA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NPPA gene promoter:
  • NRSF form 2
  • NRSF form 1
  • AP-1
  • Nkx2-5
  • deltaCREB

Genomic Locations for NPPA Gene

Genomic Locations for NPPA Gene
chr1:11,845,709-11,848,345
(GRCh38/hg38)
Size:
2,637 bases
Orientation:
Minus strand
chr1:11,905,766-11,908,402
(GRCh37/hg19)
Size:
2,637 bases
Orientation:
Minus strand

Genomic View for NPPA Gene

Genes around NPPA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NPPA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NPPA Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for NPPA Gene

Proteins for NPPA Gene

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  • Protein details for NPPA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01160-ANF_HUMAN
    Recommended name:
    Natriuretic peptides A
    Protein Accession:
    P01160
    Secondary Accessions:
    • Q13766
    • Q5JZE1

    Protein attributes for NPPA Gene

    Size:
    153 amino acids
    Molecular mass:
    16708 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAA15955.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NPPA Gene

neXtProt entry for NPPA Gene

Protein Expression for NPPA Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for NPPA Gene

  • Cleaved by CORIN upon secretion to produce the functional hormone.
  • Atrial natriuretic factor: Cleaved by MME. The cleavage initiates degradation of the factor and thereby regulate its activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NPPA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for NPPA (Atrial Natriuretic Peptide/ANP)
  • Santa Cruz Biotechnology (SCBT) Antibodies for NPPA

No data available for DME Specific Peptides for NPPA Gene

Domains & Families for NPPA Gene

Gene Families for NPPA Gene

HGNC:
Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for NPPA Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for NPPA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P01160

UniProtKB/Swiss-Prot:

ANF_HUMAN :
  • Belongs to the natriuretic peptide family.
Family:
  • Belongs to the natriuretic peptide family.
genes like me logo Genes that share domains with NPPA: view

Function for NPPA Gene

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Molecular function for NPPA Gene

UniProtKB/Swiss-Prot Function:
Hormone playing a key role in cardiovascular homeostasis through regulation of natriuresis, diuresis, and vasodilation. Also plays a role in female pregnancy by promoting trophoblast invasion and spiral artery remodeling in uterus. Specifically binds and stimulates the cGMP production of the NPR1 receptor. Binds the clearance receptor NPR3.
GENATLAS Biochemistry:
pronatriodilatin,mainly expressed in the cardiac atria and ventricles,present in the circulation and directly influencing blood pressure and body fluid homeostasis,conferring protection from nephropathy and microvascular damage in type 1 diabetes

LifeMap Function Summary for NPPA Gene

It affects the following cells:

Phenotypes From GWAS Catalog for NPPA Gene

Gene Ontology (GO) - Molecular Function for NPPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IPI 16870210
GO:0005179 hormone activity IEA --
GO:0005184 neuropeptide hormone activity IMP 19646991
GO:0005515 protein binding IPI 25416956
GO:0051427 hormone receptor binding IPI 1660465
genes like me logo Genes that share ontologies with NPPA: view
genes like me logo Genes that share phenotypes with NPPA: view

Human Phenotype Ontology for NPPA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NPPA Gene

MGI Knock Outs for NPPA:

Animal Model Products

  • Taconic Biosciences Mouse Models for NPPA

CRISPR Products

miRNA for NPPA Gene

miRTarBase miRNAs that target NPPA

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NPPA

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NPPA Gene

Localization for NPPA Gene

Subcellular locations from UniProtKB/Swiss-Prot for NPPA Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NPPA gene
Compartment Confidence
extracellular 5
nucleus 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NPPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005615 extracellular space IEA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0031012 extracellular matrix IDA 27559042
genes like me logo Genes that share ontologies with NPPA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NPPA Gene

Pathways & Interactions for NPPA Gene

genes like me logo Genes that share pathways with NPPA: view

SIGNOR curated interactions for NPPA Gene

Activates:

Gene Ontology (GO) - Biological Process for NPPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0003085 negative regulation of systemic arterial blood pressure IEA --
GO:0006182 cGMP biosynthetic process IEA,IDA 1672777
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0006457 protein folding IDA 16870210
genes like me logo Genes that share ontologies with NPPA: view

Drugs & Compounds for NPPA Gene

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(96) Drugs for NPPA Gene - From: PharmGKB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Chlorthalidone Approved Pharma 66
Amlodipine Approved Pharma Calcium channel blocker 512
Atrial natriuretic factor (1-28) (human, porcine) Pharma Endogenous peptide regulating blood pressure 0
Atrial natriuretic factor (1-28) (rat) Pharma Endogenous peptide regulating blood pressure 0
Brain natriuretic peptide (1-32) (human) Pharma Endogenous peptide agonist at ANP receptor A (NPR1) 0

(44) Additional Compounds for NPPA Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
AP 811
124833-45-0

(5) Tocris Compounds for NPPA Gene

Compound Action Cas Number
AP 811 High affinity, selective NPR3 antagonist 124833-45-0
Atrial natriuretic factor (1-28) (human, porcine) Endogenous peptide regulating blood pressure 91917-63-4
Atrial natriuretic factor (1-28) (rat) Endogenous peptide regulating blood pressure 88898-17-3
Brain natriuretic peptide (1-32) (human) Endogenous peptide agonist at ANP receptor A (NPR1) 124584-08-3
C-type natriuretic peptide (1-22) (human, rat, swine) Endogenous peptide agonist at NPR2 127869-51-6
genes like me logo Genes that share compounds with NPPA: view

Transcripts for NPPA Gene

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  2. miRNA
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mRNA/cDNA for NPPA Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(223) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NPPA Gene

Natriuretic peptide A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NPPA

Alternative Splicing Database (ASD) splice patterns (SP) for NPPA Gene

No ASD Table

Relevant External Links for NPPA Gene

GeneLoc Exon Structure for
NPPA
ECgene alternative splicing isoforms for
NPPA

Expression for NPPA Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NPPA Gene

mRNA expression in normal human tissues for NPPA Gene
mRNA expression by BioGPS for NPPA GenemRNA expression by GTEx for NPPA Gene

mRNA differential expression in normal tissues according to GTEx for NPPA Gene

This gene is overexpressed in Heart - Atrial Appendage (x52.3).

Protein differential expression in normal tissues from HIPED for NPPA Gene

This gene is overexpressed in Fetal heart (66.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NPPA Gene



Protein tissue co-expression partners for NPPA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NPPA Gene:

NPPA

SOURCE GeneReport for Unigene cluster for NPPA Gene:

Hs.75640

Evidence on tissue expression from TISSUES for NPPA Gene

  • Heart(4.7)
  • Muscle(4.4)
  • Lung(2.9)
  • Nervous system(2.9)
  • Blood(2.8)
  • Kidney(2.5)
  • Urine(2.1)
  • Adrenal gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NPPA Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
General:
  • blood
  • blood vessel
  • coagulation system
genes like me logo Genes that share expression patterns with NPPA: view

No data available for mRNA Expression by UniProt/SwissProt for NPPA Gene

Orthologs for NPPA Gene

This gene was present in the common ancestor of mammals.

Orthologs for NPPA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia NPPA 34 33
  • 99.56 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia NPPA 34 33
  • 87.53 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia NPPA 34 33
  • 85.94 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Nppa 33
  • 84.48 (n)
mouse
(Mus musculus)
 Mammalia Nppa 16 34 33
  • 82.22 (n)
oppossum
(Monodelphis domestica)
 Mammalia NPPA 34
  • 67 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia NPPA 34
  • 64 (a)
 OneToOne
Species where no ortholog for NPPA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for NPPA Gene

ENSEMBL:
Gene Tree for NPPA (if available)
TreeFam:
Gene Tree for NPPA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NPPA: view image

Paralogs for NPPA Gene

No data available for Paralogs for NPPA Gene

Variants for NPPA Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Polymorphic Variants from UniProtKB/Swiss-Prot for NPPA Gene

ANF_HUMAN-P01160
There are two different prepronatriodilatin alleles. One codes for 2 Arg residues at the C-terminus that are cleaved to form the mature peptide, while the other ends in a termination codon immediately after the last codon of the mature peptide.

Sequence variations from dbSNP and Humsavar for NPPA Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs142022010 likely-benign, Atrial fibrillation, familial, 6 11,847,271(-) C/T coding_sequence_variant, missense_variant
rs142116829 likely-benign, Atrial fibrillation, familial, 6 11,847,602(-) A/G coding_sequence_variant, missense_variant
rs148712945 likely-benign, Atrial fibrillation, familial, 6 11,847,428(-) G/A coding_sequence_variant, synonymous_variant
rs150794709 uncertain-significance, Atrial fibrillation, familial, 6 11,847,366(-) G/A coding_sequence_variant, missense_variant
rs201879717 uncertain-significance, Atrial fibrillation, familial, 6 11,847,291(-) T/C coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for NPPA Gene

Variant ID Type Subtype PubMed ID
nsv527521 CNV loss 19592680

Variation tolerance for NPPA Gene

Residual Variation Intolerance Score: 78.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.80; 79.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NPPA Gene

Human Gene Mutation Database (HGMD)
NPPA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NPPA

SNP Genotyping and Copy Number Assay Products

Disorders for NPPA Gene

MalaCards: The human disease database

(51) MalaCards diseases for NPPA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
atrial standstill 2
  • atrst2
atrial fibrillation, familial, 6
  • atfb6
atrial standstill
  • atrial cardiomyopathy with heart block
familial atrial fibrillation
  • atrial fibrillation, familial, 1
atrial fibrillation
  • a-fib
- elite association - COSMIC cancer census association via MalaCards
Search NPPA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ANF_HUMAN
  • Atrial standstill 2 (ATRST2) [MIM:615745]: A rare arrhythmia characterized by the absence of electrical and mechanical activity in the atria. Electrocardiographically, it is characterized by bradycardia, the absence of P waves, and a junctional narrow complex escape rhythm. {ECO:0000269 PubMed:23275345}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Atrial fibrillation, familial, 6 (ATFB6) [MIM:612201]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269 PubMed:18614783}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NPPA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NPPA: view

No data available for Genatlas for NPPA Gene

Publications for NPPA Gene

  1. Natriuretic peptide system gene variants are associated with ventricular dysfunction after coronary artery bypass grafting. (PMID: 19326473) Fox AA … Body SC (Anesthesiology 2009) 3 22 44 58
  2. A polymorphism in the NPPA gene associates with asthma. (PMID: 18294255) Lima JJ … Sylvester JE (Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology 2008) 3 22 44 58
  3. Pharmacogenetic association of the NPPA T2238C genetic variant with cardiovascular disease outcomes in patients with hypertension. (PMID: 18212314) Lynch AI … Arnett DK (JAMA 2008) 3 22 44 58
  4. Investigation of the association between normal-tension glaucoma and single nucleotide polymorphisms in natriuretic peptide gene. (PMID: 17460430) Jeoung JW … Yoo TW (Korean journal of ophthalmology : KJO 2007) 3 22 44 58
  5. Association between polymorphisms of ACE, B2AR, ANP and ENOS and cardiovascular diseases: a community-based study in the Matsu area. (PMID: 17243909) Hu CJ … Chang CJ (Clinical chemistry and laboratory medicine 2007) 3 22 44 58

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