NPPA Gene (Protein Coding)

Natriuretic Peptide A

GC01M011846
GIFtS:
47
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, ... See more...

Aliases for NPPA Gene

Aliases for NPPA Gene

  • Natriuretic Peptide A 2 3 5
  • Atrial Natriuretic Peptide Prohormone 3 4
  • Atrial Natriuretic Factor Prohormone 3 4
  • Natriuretic Peptides A 3 4
  • Atriopeptigen 3 4
  • PreproCDD-ANF 3 4
  • PreproANP 3 4
  • ProANF 3 4
  • ProANP 3 4
  • ANP 3 4
  • CDD 3 4
  • PND 3 4
  • Natriuretic Peptide Precursor A Variant 1 3
  • Natriuretic Peptide Precursor A 2
  • Cardiodilatin-Related Peptide 3
  • Prepronatriodilatin 3
  • Cardiodilatin 4
  • Cardionatrin 3
  • Atriopeptin 3
  • CDD-ANF 3
  • ATRST2 3
  • ATFB6 3
  • NPPA 5
  • ANF 3
  • CDP 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
  • GC01M011909
  • 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 Cardiac conduction and cGMP-PKG signaling pathway. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and neuropeptide hormone activity. An important paralog of this gene is NPPB.

UniProtKB/Swiss-Prot Summary for NPPA Gene

  • [Atrial natriuretic peptide]: Hormone that plays a key role in mediating cardio-renal homeostasis, and is involved in vascular remodeling and regulating energy metabolism (PubMed:8653797, PubMed:7595132, PubMed:2825692, PubMed:7720651, PubMed:8087923, PubMed:2532366, PubMed:22307324, PubMed:18835931, PubMed:21672517, PubMed:15741263, PubMed:16875975). Acts by specifically binding and stimulating NPR1 to produce cGMP, which in turn activates effector proteins, such as PRKG1, that drive various biological responses (PubMed:25401746, PubMed:9893117, PubMed:1672777, PubMed:1660465, PubMed:2162527, PubMed:2825692, PubMed:7720651, PubMed:22307324, PubMed:8384600, PubMed:21098034). Regulates vasodilation, natriuresis, diuresis and aldosterone synthesis and is therefore essential for regulating blood pressure, controlling the extracellular fluid volume and maintaining the fluid-electrolyte balance (PubMed:8653797, PubMed:7595132, PubMed:2825692, PubMed:7720651, PubMed:2532366, PubMed:8087923). Also involved in inhibiting cardiac remodeling and cardiac hypertrophy by inducing cardiomyocyte apoptosis and attenuating the growth of cardiomyocytes and fibroblasts (PubMed:16875975). Plays a role in female pregnancy by promoting trophoblast invasion and spiral artery remodeling in uterus, and thus prevents pregnancy-induced hypertension (By similarity). In adipose tissue, acts in various cGMP- and PKG-dependent pathways to regulate lipid metabolism and energy homeostasis (PubMed:22307324, PubMed:18835931, PubMed:21672517, PubMed:15741263). This includes upregulating lipid metabolism and mitochondrial oxygen utilization by activating the AMP-activated protein kinase (AMPK), and increasing energy expenditure by acting via MAPK11 to promote the UCP1-dependent thermogenesis of brown adipose tissue (PubMed:22307324, PubMed:18835931, PubMed:21672517, PubMed:15741263). Binds the clearance receptor NPR3 which removes the hormone from circulation (PubMed:1672777).
  • [Long-acting natriuretic peptide]: May have a role in cardio-renal homeostasis through regulation of natriuresis, diuresis, vasodilation, and inhibiting aldosterone synthesis (PubMed:8653797, PubMed:7955907, PubMed:8087923, PubMed:2825692, PubMed:7595132, PubMed:2532366). In vitro, promotes the production of cGMP and induces vasodilation (PubMed:2825692). May promote natriuresis, at least in part, by enhancing prostaglandin E2 synthesis resulting in the inhibition of renal Na+-K+-ATPase (PubMed:7720651). However reports on the involvement of this peptide in mammal blood volume and blood pressure homeostasis are conflicting; according to a report, in vivo it is not sufficient to activate cGMP and does not inhibit collecting duct transport nor effect diuresis and natriuresis (By similarity). Appears to bind to specific receptors that are distinct from the receptors bound by atrial natriuretic peptide and vessel dilator (PubMed:2162527, PubMed:2825692). Possibly enhances protein excretion in urine by decreasing proximal tubular protein reabsorption (PubMed:11145122).
  • [Vessel dilator]: May have a role in cardio-renal homeostasis through regulation of natriuresis, diuresis, and vasodilation (PubMed:8653797, PubMed:7955907, PubMed:8087923, PubMed:2532366, PubMed:7595132). In vitro, promotes the production of cGMP and induces vasodilation (PubMed:2825692). May promote natriuresis, at least in part, by enhancing prostaglandin E2 synthesis resulting in the inhibition of renal Na+-K+-ATPase (PubMed:7720651, PubMed:7595132). However reports on the involvement of this peptide in mammal blood volume and blood pressure homeostasis are conflicting; according to a report it is not sufficient to activate cGMP and does not inhibit collecting duct transport nor effect diuresis and natriuresis (PubMed:7831500). Appears to bind to specific receptors that are distinct from the receptors bound by the atrial natriuretic and long-acting natriuretic peptides (PubMed:2162527, PubMed:2825692). Possibly functions in protein excretion in urine by maintaining the integrity of the proximal tubules and enhancing protein excretion by decreasing proximal tubular protein reabsorption (PubMed:11145122).
  • [Kaliuretic peptide]: May have a role in cardio-renal homeostasis through regulation of diuresis and inhibiting aldosterone synthesis (PubMed:8087923, PubMed:2825692, PubMed:7595132). In vitro, promotes the production of cGMP and induces vasodilation (PubMed:2825692). May promote natriuresis, at least in part, by enhancing prostaglandin E2 synthesis resulting in the inhibition of renal Na+-K+-ATPase (PubMed:7720651, PubMed:7595132). May have a role in potassium excretion but not sodium excretion (natriuresis) (PubMed:8087923). Possibly enhances protein excretion in urine by decreasing proximal tubular protein reabsorption (PubMed:11145122).
  • [Urodilatin]: Hormone produced in the kidneys that appears to be important for maintaining cardio-renal homeostasis (PubMed:8351194, PubMed:8853410, PubMed:8779891). Mediates vasodilation, natriuresis and diuresis primarily in the renal system, in order to maintain the extracellular fluid volume and control the fluid-electrolyte balance (PubMed:2528951, PubMed:8351194, PubMed:8853410, PubMed:8779891). Specifically binds and stimulates cGMP production by renal transmembrane receptors, likely NPR1 (PubMed:8384600, PubMed:9893117). Urodilatin not ANP, may be the natriuretic peptide responsible for the regulation of sodium and water homeostasis in the kidney (PubMed:8779891, PubMed:8384600).
  • [Auriculin-D]: May have a role in cardio-renal homeostasis through regulation of natriuresis and vasodilation. In vivo promotes natriuresis and in vitro, vasodilates renal artery strips.
  • [Auriculin-B]: May have a role in cardio-renal homeostasis through regulation of natriuresis and vasodilation. In vivo promotes natriuresis and in vitro, vasodilates renal artery strips.
  • [Auriculin-A]: May have a role in cardio-renal homeostasis through regulation of regulation of natriuresis and vasodilation. In vivo promotes natriuresis. In vitro, vasodilates intestinal smooth muscle but not smooth muscle strips.
  • [Atriopeptin-2]: May have a role in cardio-renal homeostasis through regulation of natriuresis and vasodilation. In vivo promotes natriuresis. In vitro, selectively vasodilates intestinal and vascular smooth muscle strips.
  • [Atriopeptin-1]: May have a role in cardio-renal homeostasis through regulation of natriuresis and vasodilation. In vivo promotes natriuresis. In vitro, selectively vasodilates intestinal smooth muscle but not vascular smooth muscle strips.

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 , Rfam classification and piRNA Summary for NPPA Gene

Genomics for NPPA Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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 VISTA EPDnew Ensembl 250.7 +0.5 535 2 POLR2A CHD2 ENSG00000275915 NPPA NPPA-AS1 CLCN6 MIIP MTHFR
GH01J011989 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 1.9 -142.3 -142272 2.4 ATF3 YY1 HOMEZ FOXA2 RXRA SAP130 TEAD3 ZBTB33 FOSL2 ZNF205 MFN2 PLOD1 MIIP KIAA2013 RNU5E-1 RNU5E-4P NPPB NPPA RF00017-060 NONHSAG000387.2
GH01J011840 Enhancer 1.2 Ensembl ENCODE 0.4 +5.9 5919 4.3 NCOR1 MYC IKZF1 SSRP1 JUND ZNF592 ATF2 CEBPA ZNF10 ATF3 ENSG00000276470 piR-35944 NPPA-AS1 TARDBP ENSG00000226849 EXOSC10 MTHFR CLCN6 MIIP NPPA
GH01J011838 Enhancer 0.8 ENCODE 0.4 +9.5 9506 0.2 ZNF654 ZNF600 ZNF592 POLR2A CTCF REST DEK TRIM22 BHLHE40 SIN3A NPPA-AS1 piR-35944 HSALNG0000904 NPPA CLCN6 MTHFR
GH01J011850 Enhancer 0.5 Ensembl 0.7 -3.3 -3256 2 REST ZBTB5 MYC MAX POLR2A HSALNG0000906 NPPA-AS1 NPPA NPPB
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NPPA

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

Genomic Locations for NPPA Gene

Latest Assembly
chr1:11,845,709-11,848,345
(GRCh38/hg38)
Size:
2,637 bases
Orientation:
Minus strand

Previous Assembly
chr1:11,905,766-11,907,840
(GRCh37/hg19 by Entrez Gene)
Size:
2,075 bases
Orientation:
Minus strand

chr1:11,905,766-11,908,402
(GRCh37/hg19 by Ensembl)
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:
    151 amino acids
    Molecular mass:
    16396 Da
    Quaternary structure:
    • [Atrial natriuretic peptide]: Homodimer; disulfide-linked antiparallel dimer.

    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

  • The precursor molecule is proteolytically cleaved by CORIN at Arg-123 to produce atrial natriuretic peptide (PubMed:10880574, PubMed:14559895, PubMed:7984506). Undergoes further proteolytic cleavage by unknown proteases to give rise to long-acting natriuretic peptide, vessel dilator and kaliuretic peptide (PubMed:2532366, PubMed:7955907, PubMed:7984506). Additional processing gives rise to the auriculin and atriopeptin peptides (By similarity). In the kidneys, alternative processing by an unknown protease results in the peptide urodilatin (PubMed:2972874, PubMed:8351194, PubMed:9794555).
  • [Atrial natriuretic peptide]: Cleavage by MME initiates degradation of the factor and thereby regulates its activity (PubMed:2972276, PubMed:16254193). Degraded by IDE (in vitro) (PubMed:21098034). During IDE degradation, the resulting products can temporarily stimulate NPR2 to produce cGMP, before the fragments are completely degraded and inactivated by IDE (in vitro) (PubMed:21098034).
  • [Urodilatin]: Degraded by IDE.
  • [Urodilatin]: Phosphorylation on Ser-129 decreases vasorelaxant activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NPPA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • 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:
  • Atrial natriuretic peptide signature

Suggested Antigen Peptide Sequences for NPPA Gene

GenScript: Design optimal peptide antigens:
  • Prepronatriodilatin (ANF_HUMAN)

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:
[Atrial natriuretic peptide]: Hormone that plays a key role in mediating cardio-renal homeostasis, and is involved in vascular remodeling and regulating energy metabolism (PubMed:8653797, PubMed:7595132, PubMed:2825692, PubMed:7720651, PubMed:8087923, PubMed:2532366, PubMed:22307324, PubMed:18835931, PubMed:21672517, PubMed:15741263, PubMed:16875975). Acts by specifically binding and stimulating NPR1 to produce cGMP, which in turn activates effector proteins, such as PRKG1, that drive various biological responses (PubMed:25401746, PubMed:9893117, PubMed:1672777, PubMed:1660465, PubMed:2162527, PubMed:2825692, PubMed:7720651, PubMed:22307324, PubMed:8384600, PubMed:21098034). Regulates vasodilation, natriuresis, diuresis and aldosterone synthesis and is therefore essential for regulating blood pressure, controlling the extracellular fluid volume and maintaining the fluid-electrolyte balance (PubMed:8653797, PubMed:7595132, PubMed:2825692, PubMed:7720651, PubMed:2532366, PubMed:8087923). Also involved in inhibiting cardiac remodeling and cardiac hypertrophy by inducing cardiomyocyte apoptosis and attenuating the growth of cardiomyocytes and fibroblasts (PubMed:16875975). Plays a role in female pregnancy by promoting trophoblast invasion and spiral artery remodeling in uterus, and thus prevents pregnancy-induced hypertension (By similarity). In adipose tissue, acts in various cGMP- and PKG-dependent pathways to regulate lipid metabolism and energy homeostasis (PubMed:22307324, PubMed:18835931, PubMed:21672517, PubMed:15741263). This includes upregulating lipid metabolism and mitochondrial oxygen utilization by activating the AMP-activated protein kinase (AMPK), and increasing energy expenditure by acting via MAPK11 to promote the UCP1-dependent thermogenesis of brown adipose tissue (PubMed:22307324, PubMed:18835931, PubMed:21672517, PubMed:15741263). Binds the clearance receptor NPR3 which removes the hormone from circulation (PubMed:1672777).
UniProtKB/Swiss-Prot Function:
[Long-acting natriuretic peptide]: May have a role in cardio-renal homeostasis through regulation of natriuresis, diuresis, vasodilation, and inhibiting aldosterone synthesis (PubMed:8653797, PubMed:7955907, PubMed:8087923, PubMed:2825692, PubMed:7595132, PubMed:2532366). In vitro, promotes the production of cGMP and induces vasodilation (PubMed:2825692). May promote natriuresis, at least in part, by enhancing prostaglandin E2 synthesis resulting in the inhibition of renal Na+-K+-ATPase (PubMed:7720651). However reports on the involvement of this peptide in mammal blood volume and blood pressure homeostasis are conflicting; according to a report, in vivo it is not sufficient to activate cGMP and does not inhibit collecting duct transport nor effect diuresis and natriuresis (By similarity). Appears to bind to specific receptors that are distinct from the receptors bound by atrial natriuretic peptide and vessel dilator (PubMed:2162527, PubMed:2825692). Possibly enhances protein excretion in urine by decreasing proximal tubular protein reabsorption (PubMed:11145122).
UniProtKB/Swiss-Prot Function:
[Vessel dilator]: May have a role in cardio-renal homeostasis through regulation of natriuresis, diuresis, and vasodilation (PubMed:8653797, PubMed:7955907, PubMed:8087923, PubMed:2532366, PubMed:7595132). In vitro, promotes the production of cGMP and induces vasodilation (PubMed:2825692). May promote natriuresis, at least in part, by enhancing prostaglandin E2 synthesis resulting in the inhibition of renal Na+-K+-ATPase (PubMed:7720651, PubMed:7595132). However reports on the involvement of this peptide in mammal blood volume and blood pressure homeostasis are conflicting; according to a report it is not sufficient to activate cGMP and does not inhibit collecting duct transport nor effect diuresis and natriuresis (PubMed:7831500). Appears to bind to specific receptors that are distinct from the receptors bound by the atrial natriuretic and long-acting natriuretic peptides (PubMed:2162527, PubMed:2825692). Possibly functions in protein excretion in urine by maintaining the integrity of the proximal tubules and enhancing protein excretion by decreasing proximal tubular protein reabsorption (PubMed:11145122).
UniProtKB/Swiss-Prot Function:
[Kaliuretic peptide]: May have a role in cardio-renal homeostasis through regulation of diuresis and inhibiting aldosterone synthesis (PubMed:8087923, PubMed:2825692, PubMed:7595132). In vitro, promotes the production of cGMP and induces vasodilation (PubMed:2825692). May promote natriuresis, at least in part, by enhancing prostaglandin E2 synthesis resulting in the inhibition of renal Na+-K+-ATPase (PubMed:7720651, PubMed:7595132). May have a role in potassium excretion but not sodium excretion (natriuresis) (PubMed:8087923). Possibly enhances protein excretion in urine by decreasing proximal tubular protein reabsorption (PubMed:11145122).
UniProtKB/Swiss-Prot Function:
[Urodilatin]: Hormone produced in the kidneys that appears to be important for maintaining cardio-renal homeostasis (PubMed:8351194, PubMed:8853410, PubMed:8779891). Mediates vasodilation, natriuresis and diuresis primarily in the renal system, in order to maintain the extracellular fluid volume and control the fluid-electrolyte balance (PubMed:2528951, PubMed:8351194, PubMed:8853410, PubMed:8779891). Specifically binds and stimulates cGMP production by renal transmembrane receptors, likely NPR1 (PubMed:8384600, PubMed:9893117). Urodilatin not ANP, may be the natriuretic peptide responsible for the regulation of sodium and water homeostasis in the kidney (PubMed:8779891, PubMed:8384600).
UniProtKB/Swiss-Prot Function:
[Auriculin-D]: May have a role in cardio-renal homeostasis through regulation of natriuresis and vasodilation. In vivo promotes natriuresis and in vitro, vasodilates renal artery strips.
UniProtKB/Swiss-Prot Function:
[Auriculin-B]: May have a role in cardio-renal homeostasis through regulation of natriuresis and vasodilation. In vivo promotes natriuresis and in vitro, vasodilates renal artery strips.
UniProtKB/Swiss-Prot Function:
[Auriculin-A]: May have a role in cardio-renal homeostasis through regulation of regulation of natriuresis and vasodilation. In vivo promotes natriuresis. In vitro, vasodilates intestinal smooth muscle but not smooth muscle strips.
UniProtKB/Swiss-Prot Function:
[Atriopeptin-2]: May have a role in cardio-renal homeostasis through regulation of natriuresis and vasodilation. In vivo promotes natriuresis. In vitro, selectively vasodilates intestinal and vascular smooth muscle strips.
UniProtKB/Swiss-Prot Function:
[Atriopeptin-1]: May have a role in cardio-renal homeostasis through regulation of natriuresis and vasodilation. In vivo promotes natriuresis. In vitro, selectively vasodilates intestinal smooth muscle but not vascular smooth muscle strips.
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 IEA,IPI 16870210
GO:0005179 hormone activity IEA,IBA 21873635
GO:0005184 neuropeptide hormone activity IMP 19646991
GO:0005515 protein binding IPI 25416956
GO:0051427 hormone receptor binding IBA,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 Models for research

  • Taconic Biosciences Mouse Models for NPPA

miRNA for NPPA Gene

miRTarBase miRNAs that target NPPA

Inhibitory RNAs for research

  • 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

[Long-acting natriuretic peptide]: Secreted. Note=Detected in blood. {ECO:0000269 PubMed:2532366, ECO:0000269 PubMed:7955907, ECO:0000269 PubMed:7984506, ECO:0000269 PubMed:8653797}.
[Vessel dilator]: Secreted. Note=Detected in blood. {ECO:0000269 PubMed:2532366, ECO:0000269 PubMed:7955907, ECO:0000269 PubMed:7984506, ECO:0000269 PubMed:8653797}.
[Kaliuretic peptide]: Secreted. Note=Detected in blood. {ECO:0000269 PubMed:7984506}.
[Urodilatin]: Secreted. Note=Detected in urine (PubMed:2972874, PubMed:9794555, PubMed:8351194, PubMed:8779891). Not detected in blood (PubMed:8351194). Increased electrolytes, osmolality and intracellular cAMP levels increase peptide secretion/excretion (PubMed:9893117, PubMed:8853410, PubMed:8351194, PubMed:8779891). {ECO:0000269 PubMed:2972874, ECO:0000269 PubMed:8351194, ECO:0000269 PubMed:8779891, ECO:0000269 PubMed:8853410, ECO:0000269 PubMed:9794555, ECO:0000269 PubMed:9893117}.
[Atrial natriuretic peptide]: Secreted. Perikaryon. Cell projection. Note=Detected in blood (PubMed:8351194, PubMed:8779891, PubMed:7955907, PubMed:8653797, PubMed:15741263, PubMed:18835931, PubMed:2532366, PubMed:7984506). Detected in urine in one study (PubMed:8351194). However, in another study, was not detected in urine (PubMed:7984506). Detected in cytoplasmic bodies and neuronal processes of pyramidal neurons (layers II-VI) (PubMed:30534047). Increased secretion in response to the vasopressin AVP (By similarity). Likely to be secreted in response to an increase in atrial pressure or atrial stretch (PubMed:2532366). In kidney cells, secretion increases in response to activated guanylyl cyclases and increased intracellular cAMP levels (PubMed:9893117). Plasma levels increase 15 mins after a high-salt meal, and decrease back to normal plasma levels 1 hr later (PubMed:8779891). {ECO:0000250 UniProtKB:P01161, ECO:0000269 PubMed:15741263, ECO:0000269 PubMed:18835931, ECO:0000269 PubMed:2532366, ECO:0000269 PubMed:30534047, ECO:0000269 PubMed:7955907, ECO:0000269 PubMed:7984506, ECO:0000269 PubMed:8351194, ECO:0000269 PubMed:8653797, ECO:0000269 PubMed:8779891, ECO:0000269 PubMed:9893117}.
[Atriopeptin-3]: Secreted. Note=Detected in blood. Slight increase in secretion in response to the vasopressin AVP. {ECO:0000250 UniProtKB:P01161}.

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 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1
endosome 1
lysosome 1
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,IBA 21873635
GO:0005634 nucleus IEA,IBA 21873635
GO:0005737 cytoplasm IEA,IBA 21873635
GO:0005903 brush border IEA --
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

Pathways by source for NPPA Gene

3 Qiagen pathways for NPPA Gene
  • Cardiomyocyte Differentiation through BMP Receptors
  • Factors Promoting Cardiogenesis in Vertebrates
  • HOP Signaling

SIGNOR curated interactions for NPPA Gene

Activates:
Is activated by:
Is inactivated by:

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,IBA 21873635
GO:0003180 aortic valve morphogenesis TAS 29325903
GO:0006182 cGMP biosynthetic process IDA 1672777
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
genes like me logo Genes that share ontologies with NPPA: view

Drugs & Compounds for NPPA Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Chlorthalidone Approved Pharma 81
Amlodipine Approved Pharma Calcium channel blocker 602
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
BNP (1-32), human Pharma Brain natriuretic peptide 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
AP 811
124833-45-0
Atrial natriuretic factor (1-28) (human, porcine)
91917-63-4

(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

(3) ApexBio Compounds for NPPA Gene

Compound Action Cas Number
Atrial natriuretic factor (1-28) (rat) 88898-17-3
BNP (1-32), human Brain natriuretic peptide 114471-18-0
Brain natriuretic peptide (1-32) (human) 124584-08-3
genes like me logo Genes that share compounds with NPPA: view

Drug products for research

Transcripts for NPPA Gene

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  3. Inhibitory RNAs for research
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mRNA/cDNA for NPPA Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • 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

Expression for NPPA Gene

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  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NPPA

SOURCE GeneReport for Unigene cluster for NPPA Gene:

Hs.75640

mRNA Expression by UniProt/SwissProt for NPPA Gene:

P01160-ANF_HUMAN
Tissue specificity: [Urodilatin]: Detected in the kidney distal tubular cells (at protein level) (PubMed:9794555, PubMed:8384600). Present in urine (at protein level) (PubMed:2972874, PubMed:9794555, PubMed:8351194, PubMed:8779891).

Evidence on tissue expression from TISSUES for NPPA Gene

  • Heart(4.7)
  • Muscle(4.4)
  • Lung(2.8)
  • Nervous system(2.8)
  • Blood(2.6)
  • Kidney(2.4)
  • Skin(2.1)
  • Urine(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

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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 29 30
  • 99.56 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia NPPA 29 30
  • 87.53 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia NPPA 29 30
  • 85.94 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Nppa 29
  • 84.48 (n)
Mouse
(Mus musculus)
 Mammalia Nppa 29 16 30
  • 82.22 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia NPPA 30
  • 67 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia NPPA 30
  • 64 (a)
 OneToOne
Species where no ortholog for NPPA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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
Alliance of Genome Resources:
Additional Orthologs for NPPA

Paralogs for NPPA Gene

Paralogs for NPPA Gene

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

Variants for NPPA Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NPPA Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1011647 Uncertain Significance: Atrial fibrillation, familial, 6 11,847,666(-) T/C
NM_006172.4(NPPA):c.19A>G (p.Thr7Ala) 		MISSENSE
1025429 Uncertain Significance: Atrial fibrillation, familial, 6 11,847,409(-) G/A
NM_006172.4(NPPA):c.154C>T (p.Pro52Ser) 		MISSENSE
1035991 Uncertain Significance: Atrial fibrillation, familial, 6 11,847,626(-) A/G
NM_006172.4(NPPA):c.59T>C (p.Leu20Pro) 		MISSENSE
836403 Uncertain Significance: Atrial fibrillation, familial, 6 11,847,596(-) T/C
NM_006172.4(NPPA):c.89A>G (p.Asn30Ser) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
840195 Uncertain Significance: Atrial fibrillation, familial, 6 11,847,208(-) GCAGCGCCCT/G
NM_006172.4(NPPA):c.346_354del (p.Arg116_Leu118del) 		INFRAME_DELETION

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NPPA Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
NPPA

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NPPA Gene

Disorders for NPPA Gene

MalaCards: The human disease database

(80) MalaCards diseases for NPPA Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
atrial standstill 2
  • atrst2
atrial fibrillation, familial, 6
  • atfb6
atrial standstill
  • atrial cardiomyopathy with heart block
familial atrial fibrillation
  • atfb
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 variants 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 variants affecting the gene represented in this entry.

Additional Disease Information for NPPA

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NPPA: view

No data available for Genatlas for NPPA Gene

Publications for NPPA Gene

  1. Association of atrial natriuretic peptide and type a natriuretic peptide receptor gene polymorphisms with left ventricular mass in human essential hypertension. (PMID: 16875975) Rubattu S … Stella P (Journal of the American College of Cardiology 2006) 3 4 22 40
  2. Autosomal recessive atrial dilated cardiomyopathy with standstill evolution associated with mutation of Natriuretic Peptide Precursor A. (PMID: 23275345) Disertori M … Arbustini E (Circulation. Cardiovascular genetics 2013) 3 4 72
  3. 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 40
  4. Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. (PMID: 18614783) Hodgson-Zingman DM … Olson TM (The New England journal of medicine 2008) 3 4 72
  5. Arterial stiffness, physical activity, and atrial natriuretic Peptide gene polymorphism in older subjects. (PMID: 18633189) Iemitsu M … Matsuda M (Hypertension research : official journal of the Japanese Society of Hypertension 2008) 3 22 40

ExternalLinks

View latest publications for NPPA gene in Mastermind

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