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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NPPA Gene

protein-coding   GIFtS: 63
GCID: GC01M011909

natriuretic peptide A

(Previous name: natriuretic peptide precursor A )
(Previous symbols: ANP, PND)
 Explore 203 diseases affiliated with
NPPA via
MalaCards
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Biological research products
for NPPA    

Aliases
for NPPA gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Natriuretic Peptide A1 2     ANF2
ANP1 2 3 5     Atriopeptin1
PND1 2 3 5     Cardionatrin1
Natriuretic Peptide Precursor A1 2     Natriuretic Peptides A2
CDD-ANF2 3     Prepronatriodilatin3
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


Summaries
for NPPA gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for NPPA:
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)

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:
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)


Genomic Views
for NPPA 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_021937.19  
Regulatory elements:
   SABiosciences 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 plasmid: NPPA promoter sequence
   Search SABiosciences Chromatin IP Primers for NPPA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for NPPA gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: ANF_HUMAN, P01160 (See protein sequence)
Recommended Name: Natriuretic peptides A precursor  
Size: 153 amino acids; 16708 Da
Subcellular location: Secreted
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

Post-translational modifications:

  • Cleaved by CORIN upon secretion to produce the functional hormone1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P01160

    • NPPA Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_006163.1  
    ENSEMBL proteins: 
     ENSP00000365663   ENSP00000365659  
    Reactome Protein details: P01160
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    Uscn Proteins for NPPA

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (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--


    NPPA for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for NPPA

    Protein Domains /
    Families
    for NPPA gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NPPA for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR000663 Natr_peptide
     IPR002407 Natriuretic_peptide_atrial

    Graphical View of Domain Structure for InterPro Entry P01160

    ProtoNet protein and cluster: P01160

    1 Blocks protein family: IPB002407 Atrial natriuretic peptide signature

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


    Function
    for NPPA gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NPPA
    1 QIAGEN miScript miRNA Assays for microRNA that regulate NPPA:
    hsa-miR-3907
    SwitchGear 3'UTR luciferase reporter plasmid: NPPA 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding IPI1660465
    GO:0005179hormone activity NAS--
    GO:0051428peptide hormone receptor binding IEA--


    NPPA for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Nppatm1Unc for NPPA
         5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Nppa):
     cardiovascular system  hematopoietic system  homeostasis/metabolism  muscle  renal/urinary system 

    NPPA for phenotypes           About GeneDecksing


    Pathways & Interactions
    for NPPA gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Amyloid precursor proteins form ordered fibrils
    		Amyloid precursor proteins form ordered fibrils1.00
    		Amyloids0.43
    2Generic Transcription Pathway
    		Generic Transcription Pathway1.00
    		Gene Expression0.46
    3YAP1- and WWTR1 (TAZ)-stimulated gene expression
    		YAP1- and WWTR1 (TAZ)-stimulated gene expression1.00
    4Disease
    		Disease1.00
    5Cardiomyocyte Differentiation through BMP Receptors
    		Cardiomyocyte Differentiation through BMP Receptors1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 Downloadable PowerPoint Slides of QIAGEN 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

    5/7        Reactome Pathways for NPPA (see all 7)
        Amyloids
    Amyloid precursor proteins form ordered fibrils
    Generic Transcription Pathway
    Expression of NPPA (ANF)
    Gene Expression



    NPPA for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NPPA

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

    5/40 Interacting proteins for NPPA (P011602, 3 ENSP000003656634) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    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
    CAPRIN1Q144443, ENSP000003403294I2D: score=1 STRING: ENSP00000340329
    G6PDP114133, ENSP000003771924I2D: score=1 STRING: ENSP00000377192
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006182cGMP biosynthetic process IDA1672777
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--
    GO:0007168receptor guanylyl cyclase signaling pathway IDA1672777
    GO:0007565female pregnancy ISS--
    GO:0008217regulation of blood pressure IDA6230082


    NPPA for ontologies           About GeneDecksing



    Drugs & Compounds
    for NPPA gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NPPA for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for NPPA available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Atrial natriuretic factor (1-28) (human, porcine) Endogenous peptide regulating blood pressure[91917-63-4]
    10/133 Novoseek 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
    Drug/compound PharmGKB Annotation
    amlodipineCA  
    chlorthalidoneCA  
    About this table

    Search CenterWatch for drugs/clinical trials and news about NPPA / ANF 

    Transcripts
    for NPPA gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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

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    hsa-miR-3907
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    Inhib. RNA
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    Primer
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    Additional cDNA sequence: 

    BC005893.1 K02044.1 M30262.1 

    7 DOTS entries:

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

    24/223 AceView cDNA sequences (see all 223):

    AA247472 N86331 AA360037 BE467951 AJ706698 C05447 BM711189 AA096401 
    AA348053 BX282388 BU737362 T28714 R58059 AA249246 N85823 AA359067 
    AA359201 AJ708849 AA346397 C05463 AA347827 AA346398 AA215896 AJ712145 

    GeneLoc Exon Structure


    Expression
    for NPPA gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NPPA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GACAGAAGAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    NPPA expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartAtrial SeptumCardiomyocytesMyocardium
    HeartLeft AtriumCardiomyocytesMyocardium
    HeartLeft VentricleCardiomyocytesMyocardium
    HeartOuter CurvatureCardiomyocytesMyocardium
    HeartRight AtriumCardiomyocytesMyocardium
    HeartRight VentricleCardiomyocytesMyocardium
    HeartAtrioventricular SeptumCardiomyocytesMyocardium
    HeartInner CurvatureCardiomyocytesMyocardium
    HeartMyocardiumCardiomyocytesMyocardium
    Gut TubeForegutForegut Endoderm CellsEndoderm
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ progenitor EN27 (Embryonic Progenitor Cell)
    Beating embryoid bodies (Cardiac differentiat...)

    See NPPA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NPPA

    SOURCE GeneReport for Unigene cluster: Hs.75640
        SABiosciences Expression via Pathway-Focused 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:     
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    Orthologs
    for NPPA gene

    (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)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for NPPA gene from 2/8 species (see all 8)    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 
    zebrafish
    (Danio rerio)    		 Actinopterygii nppa6
    		 natriuretic peptide precursor A
    		 23(a)
    		 1 ↔ 1
    		 8(50771784-50776485)


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

    Paralogs
    for NPPA gene

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

    Genomic Variants
    for NPPA gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: ANF_HUMAN, P01160
    Polymorphism: 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


    10/116 NCBI SNPs in NPPA are shown (see all 116)     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,H,non-pathogenic11907603(+) CACCCG/ACTTTC 2 -- nc-transcript-variantint124Minor allele frequency- A:0.11MN NA NS EA WA EU 6623
    rs1136659531,2
    		C,--11905301(+) CATGC-/CTGG  
                CTAAT     		2 -- ds5001 int11Minor allele frequency- CTGG:0.00CSA 2
    rs1815814801,2
    		--11905589(+) AACAAC/GAAAAA 2 -- int1 ds50010--------
    rs1862459841,2
    		--11905591(+) CAACAA/GAAACC 2 -- ds5001 int10--------
    rs1983611,2
    		C,F,A,H,--11905633(+) CCACCT/CACCAA 2 -- nc-transcript-variantds500116Minor allele frequency- C:0.18NS EA NA WA CSA 2620
    rs1490737871,2
    		--11905661(+) AAAGGA/GAGAAG 2 -- nc-transcript-variantds50010--------
    rs1445785301,2
    		C,--11905798(+) TTATT-/CACT  
     TTCAAAC    CACTT     		2 -- nc-transcript-variantut310--------
    rs637490861,2
    		F--11905806(+) TTTCAAACCAC  
     TTTCA    /-    GTAAC     		2 -- ut31 nc-transcript-variant1Minor allele frequency- -:0.05NS 550
    rs617640441,2
    		C,--11905851(+) NNNNCA/G/TTGGGG 3 -- ut31 int14NS CSA WA NA 739
    rs617640451,2
    		C,--11905872(+) GAGGAA/GGTCAC 2 -- int1 ut311Minor allele frequency- G:0.00NS 500

    HapMap Linkage Disequilibrium report for NPPA (11905766 - 11908402 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NPPA: --
    Human Gene Mutation Database (HGMD): NPPA

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for NPPA gene

    (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
    NPPA for disorders           About GeneDecksing

    OMIM gene information: 108780   
    OMIM disorders: 612201  
    UniProtKB/Swiss-Prot: ANF_HUMAN, P01160
  • Defects in NPPA are the cause of familial atrial fibrillation type 6 (ATFB6) [MIM:612201]. Atrial fibrillation
    • is a common disorder of cardiac rhythm that is hereditary in a small subgroup of patients. It is characterized by
    disorganized atrial electrical activity, progressive deterioration of atrial electromechanical function and
    ineffective pumping of blood into the ventricles. It can be associated with palpitations, syncope, thromboembolic
    stroke, and congestive heart failure

    20/203 diseases for NPPA (see all 203):    About MalaCards
    atrial fibrillation    twin-to-twin transfusion syndrome    atrial fibrillation, familial, 6    twin twin transfusion syndrome
    cor pulmonale    inappropriate adh syndrome    endocardial fibroelastosis    mitral valve prolapse
    nephropathia epidemica    end stage renal failure    mitral valve disease    mitral valve insufficiency
    mitral valve stenosis    myocardial infarction    acute myocardial infarction    ventricular septal defect
    nephrogenic diabetes insipidus    central sleep apnea    aortic valve insufficiency    sleep apnea

    15 diseases from the University of Copenhagen DISEASES database for NPPA:
    Congestive heart failure     Hypertension     Kidney failure     Myocardial infarction
    Dilated cardiomyopathy     Liver cirrhosis     Cerebrovascular accident     Mitral valve stenosis
    Conn's syndrome     Inappropriate ADH syndrome     Congenital heart defect     Diabetes mellitus
    Mitral valve insufficiency     Lung disease     Nephrotic syndrome

    10/96 Novoseek 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

    Publications
    for NPPA gene

    (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

    PubMed articles for NPPA gene, integrated from 9 sources (see all 2948):
    (articles sorted by number of sources associating them with NPPA)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Atrial natriuretic peptide gene polymorphisms and risk of ischemic stroke in humans. (PubMed id 15017020)1, 4, 9 Rubattu S....Volpe M. (2004)
    2. 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. (2002)
    3. 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. (1991)
    4. Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. (PubMed id 18614783)1, 2, 9 Hodgson-Zingman D.M....Olson T.M. (2008)
    5. Structural determinants of natriuretic peptide receptor specificity and degeneracy. (PubMed id 16870210)1, 2, 9 He X.-L.... Garcia K.C. (2006)
    6. 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. (2004)
    7. Atrial natriuretic peptide gene G664A polymorphism and the risk of ischemic cerebrovascular disease. (PubMed id 11706124)1, 4, 9 Hassan A....Markus H.S. (2001)
    8. The ScaI gene polymorphism of the atrial natriuretic factor and essential arterial hypertension in childhood. (PubMed id 15666592)1, 4, 9 Zorc-Pleskovic R....Teran N. (2004)
    9. [Study of genotype frequencies of ANP 664G/A polymorphism in normal subjects and CVD patients, and its association with plasma ANP levels] (PubMed id 11985060)1, 4, 9 Ohta A....Watanabe K. (2002)
    10. Polymorphisms in the hANP (human atrial natriuretic peptide) gene, albuminuria, and hypertension. (PubMed id 11408388)1, 4, 9 Nannipieri M....Ferrannini E. (2001)

    External Searches for NPPA gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    Genome Databases showing NPPA gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4878 HGNC: 7939 AceView: NPPA Ensembl:ENSG00000175206 euGenes: HUgn4878
    ECgene: NPPA H-InvDB: NPPA

    Other Databases showing NPPA gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NPPA gene

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

    Intellectual Property
    for NPPA gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for NPPA gene:
    Search GeneIP for patents involving NPPA

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