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NPPA Gene

protein-coding   GIFtS: 63
GCID: GC01M011909

Natriuretic Peptide A

(Previous name: natriuretic peptide precursor A)
(Previous symbols: ANP, PND)
  See NPPA-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Natriuretic Peptide A1 2     ANF2
ANP1 2 3 5     atriopeptin2
PND1 2 3 5     cardionatrin2
Natriuretic Peptide Precursor A1 2     Natriuretic Peptides A2
CDD-ANF2 3     prepronatriodilatin2
ATFB62 5     Prepronatriodilatin3

External Ids:    HGNC: 79391   Entrez Gene: 48782   Ensembl: ENSG000001752067   OMIM: 1087805   UniProtKB: P011603   

Export aliases for NPPA gene to outside databases

Previous GC identifers: GC01U990120 GC01M011750 GC01M011515 GC01M011615 GC01M011840 GC01M011828 GC01M011061


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. (provided by RefSeq, Sep 2009)

GeneCards Summary for NPPA Gene:
NPPA (natriuretic peptide A) is a protein-coding gene. Diseases associated with NPPA include acute myocardial infarction, and mitral valve disease. GO annotations related to this gene include peptide hormone receptor binding and receptor binding.

UniProtKB/Swiss-Prot: ANF_HUMAN, P01160
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

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, NPR2 and NPR3, which have conserved
catalytic and regulatory domains and divergent ligand binding domains. Natruiretic peptide receptors bind
alpha-atrial natriuretic peptide, brain natriuretic peptide and type C-natriuretic peptide with varying
affinity and are found in the brain, vasculature and kidney. The main physiological role of NP receptors is
in homeostasis of body fluid volume.

Gene Wiki entry for NPPA (Atrial natriuretic peptide) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the NPPA gene promoter:
         AP-1   deltaCREB   NRSF form 1   Nkx2-5   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNPPA promoter sequence
   Search Chromatin IP Primers for NPPA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NPPA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.21   Ensembl cytogenetic band:  1p36.22   HGNC cytogenetic band: 1p36.21

NPPA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NPPA gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M011909:  view genomic region     (about GC identifiers)

Start:
11,905,766 bp from pter      End:
11,908,402 bp from pter
Size:
2,637 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ANF_HUMAN, P01160 (See protein sequence)
Recommended Name: Natriuretic peptides A precursor  
Size: 153 amino acids; 16708 Da
Sequence caution: Sequence=CAA15955.2; Type=Erroneous initiation;
3 PDB 3D structures from and Proteopedia for NPPA:
1ANP (3D)        1YK0 (3D)        3N57 (3D)    
Secondary accessions: Q13766 Q5JZE1

Explore the universe of human proteins at neXtProt for NPPA: NX_P01160

Explore proteomics data for NPPA at MOPED

Post-translational modifications: 

  • Cleaved by CORIN upon secretion to produce the functional hormone1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NPPA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006163.1  
    ENSEMBL proteins: 
     ENSP00000365663   ENSP00000365659  
    Reactome Protein details: P01160

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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    Search eBioscience for ELISAs for NPPA 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ENDOLIG: Endogenous ligands

    2 InterPro protein domains:
     IPR000663 Natr_peptide
     IPR002407 Natriuretic_peptide_atrial

    Graphical View of Domain Structure for InterPro Entry P01160

    ProtoNet protein and cluster: P01160

    1 Blocks protein domain: IPB002407 Atrial natriuretic peptide signature

    UniProtKB/Swiss-Prot: ANF_HUMAN, P01160
    Similarity: Belongs to the natriuretic peptide family


    Find genes that share domains with NPPA           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ANF_HUMAN, P01160
    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 entry for NPPA:
    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

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding IPI1660465
    GO:0005179hormone activity IEA--
    GO:0051428peptide hormone receptor binding IEA--
         
    Find genes that share ontologies with NPPA           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Nppa):
     cardiovascular system  hematopoietic system  homeostasis/metabolism  muscle  renal/urinary system 

    Find genes that share phenotypes with NPPA           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Nppatm1Unc for NPPA

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NPPA
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    1 qRT-PCR Assays for microRNA that regulate NPPA:
    hsa-miR-3907
    SwitchGear 3'UTR luciferase reporter plasmidNPPA 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ANF_HUMAN, P01160: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane3
    cytoskeleton2
    cytosol2
    endoplasmic reticulum2
    golgi apparatus2
    lysosome2
    mitochondrion2
    nucleus2
    vacuole2

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IEA--
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----
    GO:0042629mast cell granule IEA--

    Find genes that share ontologies with NPPA           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NPPA About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Gene Expression
    Generic Transcription Pathway0.40
    Gene Expression0.40
    2RNA Polymerase I Promoter Opening
    Amyloids0.68
    3Human Embryonic Stem Cell Pluripotency
    Factors Promoting Cardiogenesis in Vertebrates0.50
    4Circadian Repression of Expression by REV-ERBA
    YAP1- and WWTR1 (TAZ)-stimulated gene expression0.40
    5MicroRNAs in cardiomyocyte hypertrophy
    MicroRNAs in cardiomyocyte hypertrophy


    Find genes that share SuperPaths with NPPA           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for NPPA
        Cardiomyocyte Differentiation through BMP Receptors
    Factors Promoting Cardiogenesis in Vertebrates
    HOP Signaling

    1 BioSystems Pathway for NPPA
        MicroRNAs in cardiomyocyte hypertrophy

    2 Reactome Pathways for NPPA
        Amyloids
    YAP1- and WWTR1 (TAZ)-stimulated gene expression


    1 Kegg Pathway  (Kegg details for NPPA):
        HIF-1 signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NPPA: 
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NPPA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NPPA (P011602, 3 ENSP000003656634) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBQLN4Q9NRR52, 3, ENSP000003572924MINT-2861380 I2D: score=3 STRING: ENSP00000357292
    MMEP084733, ENSP000003536794I2D: score=2 STRING: ENSP00000353679
    NPR3P173423, ENSP000003980284I2D: score=2 STRING: ENSP00000398028
    G6PDP114133, ENSP000003771924I2D: score=1 STRING: ENSP00000377192
    NPR1P160663, ENSP000003576694I2D: score=1 STRING: ENSP00000357669
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia IEA--
    GO:0003085negative regulation of systemic arterial blood pressure IEA--
    GO:0006182cGMP biosynthetic process IDA1672777
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--
    GO:0007168receptor guanylyl cyclase signaling pathway IDA1672777

    Find genes that share ontologies with NPPA           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for NPPA available from Tocris Bioscience    About this table
    CompoundAction CAS #
    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]
    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]

    Selected Novoseek inferred chemical compound relationships for NPPA gene (see all 133)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hanp 94.5 136 1532110 (2), 10750752 (2), 2174002 (2), 8551708 (2) (see all 99)
    cgmp 90.3 1593 1661054 (11), 14587653 (10), 11865578 (9), 8077618 (8) (see all 99)
    urodilatin 89.4 219 14757224 (6), 8384600 (6), 7812611 (6), 20206222 (5) (see all 68)
    sodium 86 1020 7963510 (7), 8864421 (7), 1457079 (6), 7891313 (5) (see all 99)
    anaritide 80.7 9 2144948 (1), 11007679 (1), 2136969 (1), 9062091 (1) (see all 8)
    norepinephrine 79.4 727 11771867 (7), 14587654 (5), 19635983 (5), 8783676 (4) (see all 99)
    nppa 78.7 44 16002056 (6), 18294255 (4), 19146799 (3), 15895405 (3) (see all 17)
    candoxatril 78.6 38 8275621 (5), 1827451 (4), 1386491 (3), 9010697 (2) (see all 13)
    guanylate 76.7 138 8096122 (3), 7904711 (2), 11254088 (2), 1645748 (2) (see all 94)
    8-bromo cgmp 70.5 51 7540093 (3), 12586756 (2), 9486247 (2), 11292628 (2) (see all 30)

    2 PharmGKB related drug/compound annotations for NPPA gene    About this table
    Drug/compound PharmGKB Annotation
    amlodipineCA  
    chlorthalidoneCA  



    Find genes that share compounds with NPPA           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NPPA gene: 
    NM_006172.3  

    Unigene Cluster for NPPA:

    Natriuretic peptide A
    Hs.75640  [show with all ESTs]
    Unigene Representative Sequence: BI832557
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376480(uc001ati.3) ENST00000376476
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat NPPA

    Additional mRNA sequence: 

    BC005893.1 K02044.1 M30262.1 

    7 DOTS entries:

    DT.102836380  DT.119770  DT.102836387  DT.102836385  DT.102836388  DT.424717  DT.92418621 

    Selected AceView cDNA sequences (see all 223):

    T28714 AA215896 BE467951 C05463 AA247472 AA347827 AA249246 AA346397 
    BM711189 AA346398 AA359067 AA360037 C05447 N86331 AJ708849 BU737362 
    N85823 BX282388 AA348053 R58059 AA359201 AJ706698 AA096401 M30262 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NPPA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACAGAAGAC
    NPPA Expression
    About this image


    NPPA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 20 entries
             Cardiomyocytes Left Ventricle
             Beating embryoid bodies
             heart muscle ; myocytes   
             Heart Muscle   
     
     Fibroblasts
             Cardiac Fibroblasts Myocardium
    NPPA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NPPA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.75640
        Pathway & Disease-focused RT2 Profiler PCR Arrays including NPPA: 
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPPA

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of human and mouse.

    Orthologs for NPPA gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nppa1 , 5 natriuretic peptide type A1, 5 82.22(n)1
    80.67(a)1
      4 (78.66 cM)5
    2308991  NM_008725.21  NP_032751.11 
     1480007225 


    ENSEMBL Gene Tree for NPPA (if available)
    TreeFam Gene Tree for NPPA (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    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


    Selected SNPs for NPPA (see all 151)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs50641,2
    C,F,Hnon-pathogenic111925877(+) CACCCG/ACTTTC 1 -- int124Minor allele frequency- A:0.11MN NA NS EA WA EU 6623
    rs1502234681,2
    C--11906978(+) CCCCC-/TTTTTT 1 -- int10--------
    rs1136659531,2
    C--11923573(+) CATGC-/CTGG  
            
    GCTAA
    1 -- ds50011Minor allele frequency- CTGG:0.00CSA 2
    rs1815814801,2
    --11923861(+) AACAAC/GAAAAA 1 -- ds50010--------
    rs1862459841,2
    --11923863(+) CAACAA/GAAACC 1 -- ds50010--------
    rs1983611,2
    C,F,A,H--11923905(+) CCACCT/CACCAA 1 -- ds500116Minor allele frequency- C:0.18NS EA NA WA CSA 2620
    rs1490737871,2
    --11923933(+) AAAGGA/GAGAAG 1 -- ds50010--------
    rs1445785301,2
    C--11924070(+) TTATT-/CACT  
     TTCAAAC
    CACTT
    1 -- ut310--------
    rs637490861,2
    F--11924078(+) TTTCAAACCAC  
     TTTCA
    /-
    GTAAC
    1 -- ut311Minor allele frequency- -:0.05NS 550
    rs617640441,2
    C--11924123(+) AATGCA/G/TTGGGG 2 -- ut314NS CSA WA NA 739

    HapMap Linkage Disequilibrium report for NPPA (11905766 - 11908402 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for NPPA:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv527521CNV Loss19592680

    Human Gene Mutation Database (HGMD): NPPA
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NPPA
    DNA2.0 Custom Variant and Variant Library Synthesis for NPPA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 108780   
    OMIM disorders: 612201  
    UniProtKB/Swiss-Prot: ANF_HUMAN, P01160
  • 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. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • Selected diseases for NPPA (see all 42):    
    About MalaCards
    acute myocardial infarction    mitral valve disease    atrial fibrillation, familial, 6    univentricular heart
    atrial standstill 2    cirrhotic cardiomyopathy    idiopathic edema    syndrome of inappropriate antidiuretic hormone
    atrial fibrillation, familial, 9    atrial standstill, digenic    acute kidney failure    central sleep apnea
    dumping syndrome    cor pulmonale    collagen disease    hepatorenal syndrome
    nephropathia epidemica    sick sinus syndrome    inappropriate adh syndrome    renal artery disease

    11 diseases from the University of Copenhagen DISEASES database for NPPA:
    Hypertension     Heart disease     Kidney failure     Liver cirrhosis
    Cerebrovascular accident     Inappropriate ADH syndrome     Conn's syndrome     Congenital heart defect
    Diabetes mellitus     Lung disease     Nephrotic syndrome

    Find genes that share disorders with NPPA           About GenesLikeMe

    Selected Novoseek inferred disease relationships for NPPA gene (see all 96)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    heart failure 82.5 573 2163779 (6), 1381766 (6), 11558682 (6), 9591213 (6) (see all 99)
    heart failure congestive 81.5 276 1473654 (3), 8376700 (3), 9398103 (3), 2149534 (2) (see all 99)
    essential hypertension 77 263 1832596 (6), 1838027 (5), 1838026 (4), 8675258 (3) (see all 99)
    fluid overload 72.3 53 1320949 (2), 16296241 (2), 1650945 (1), 7597180 (1) (see all 35)
    ventricular dysfunction left 71.2 67 8112915 (4), 10937950 (4), 8025996 (3), 9588412 (3) (see all 38)
    cardiac hypertrophy 68 47 17672826 (2), 11023967 (1), 18032122 (1), 8603581 (1) (see all 40)
    fluid retention 67.3 17 14566253 (2), 1825779 (1), 7739259 (1), 8772586 (1) (see all 13)
    hyponatremia 64.8 76 16467103 (6), 1531380 (4), 1831372 (4), 8988724 (3) (see all 31)
    ventricular dysfunction 60.8 13 11157316 (1), 8705771 (1), 9791037 (1), 1831809 (1) (see all 12)
    hypertrophy 60.8 128 1832775 (3), 15313208 (3), 11399649 (3), 18434368 (3) (see all 73)

    Genetic Association Database (GAD): NPPA
    Human Genome Epidemiology (HuGE) Navigator: NPPA (62 documents)

    Export disorders for NPPA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for NPPA gene, integrated from 10 sources (see all 2963):
    (articles sorted by number of sources associating them with NPPA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A polymorphism in the NPPA gene associates with asthma. (PubMed id 18294255)1, 4, 9 Lima J.J....Sylvester J.E. (Clin. Exp. Allergy 2008)
    2. Atrial natriuretic peptide gene polymorphisms and risk of ischemic stroke in humans. (PubMed id 15017020)1, 4, 9 Rubattu S....Volpe M. ( a journal of cerebral circulation 2004)
    3. Association between an atrial natriuretic peptide gene polymorphism and normal blood pressure in subjects of African ancestry. (PubMed id 12193960)1, 4, 9 Nkeh B....Norton G.R. (Cardiovasc J S Afr 2002)
    4. Association between an ANF Gene I/D dimorphism and left ventricular hypertrophy in a Gulf Arab population. (PubMed id 17259761)1, 4, 9 Obineche E.N....Bokhari A.M. (Ann Saudi Med 2002)
    5. Extracellular domain-IgG fusion proteins for three human natriuretic peptide receptors. Hormone pharmacology and application to solid phase screening of synthetic peptide antisera. (PubMed id 1660465)1, 2, 9 Bennett B.D.... Lowe D.G. (J. Biol. Chem. 1991)
    6. Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. (PubMed id 18614783)1, 2, 9 Hodgson-Zingman D.M....Olson T.M. (N. Engl. J. Med. 2008)
    7. Pharmacogenetic association of the NPPA T2238C genetic variant with cardiovascular disease outcomes in patients with hypertension. (PubMed id 18212314)1, 4, 9 Lynch A.I....Arnett D.K. (JAMA 2008)
    8. Association of atrial natriuretic peptide and type a natriuretic peptide receptor gene polymorphisms with left ventricular mass in human essential hypertension. (PubMed id 16875975)1, 4, 9 Rubattu S....Stella P. (J. Am. Coll. Cardiol. 2006)
    9. Structural determinants of natriuretic peptide receptor specificity and degeneracy. (PubMed id 16870210)1, 2, 9 He X.-L.... Garcia K.C. (J. Mol. Biol. 2006)
    10. Investigation of the human ANP gene in type 1 diabetic nephropathy: case-control and follow-up studies. (PubMed id 15111511)1, 4, 9 Roussel R....Marre M. (Diabetes 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 4878 HGNC: 7939 AceView: NPPA Ensembl:ENSG00000175206 euGenes: HUgn4878
    ECgene: NPPA Kegg: 4878 H-InvDB: NPPA

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for NPPA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NPPA Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/Atrial_natriuretic_peptide

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for NPPA gene:
    Search GeneIP for patents involving NPPA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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