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Aliases for NPPB Gene

Aliases for NPPB Gene

  • Natriuretic Peptide B 2 3 5
  • Gamma-Brain Natriuretic Peptide 3 4
  • Natriuretic Peptide Precursor B 2 3
  • Brain Type Natriuretic Peptide 3
  • Natriuretic Peptides B 3
  • Natriuretic Protein 3
  • BNP 3

External Ids for NPPB Gene

Previous GeneCards Identifiers for NPPB Gene

  • GC01M011981
  • GC01M011762
  • GC01M011526
  • GC01M011627
  • GC01M011851
  • GC01M011073

Summaries for NPPB Gene

Entrez Gene Summary for NPPB Gene

  • This gene is a member of the natriuretic peptide family and encodes a secreted protein which functions as a cardiac hormone. The protein undergoes two cleavage events, one within the cell and a second after secretion into the blood. The protein's biological actions include natriuresis, diuresis, vasorelaxation, inhibition of renin and aldosterone secretion, and a key role in cardiovascular homeostasis. A high concentration of this protein in the bloodstream is indicative of heart failure. The protein also acts as an antimicrobial peptide with antibacterial and antifungal activity. Mutations in this gene have been associated with postmenopausal osteoporosis. [provided by RefSeq, Nov 2014]

GeneCards Summary for NPPB Gene

NPPB (Natriuretic Peptide B) is a Protein Coding gene. Diseases associated with NPPB include Constrictive Pericarditis and Systolic Heart Failure. Among its related pathways are MicroRNAs in cardiomyocyte hypertrophy and Development Endothelin-1/EDNRA signaling. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and diuretic hormone activity.

UniProtKB/Swiss-Prot for NPPB Gene

  • Cardiac hormone which may function as a paracrine antifibrotic factor in the heart. Also plays a key role in cardiovascular homeostasis through natriuresis, diuresis, vasorelaxation, and inhibition of renin and aldosterone secretion. Specifically binds and stimulates the cGMP production of the NPR1 receptor. Binds the clearance receptor NPR3.

Gene Wiki entry for NPPB Gene

Additional gene information for NPPB Gene

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

Genomics for NPPB Gene

GeneHancer (GH) Regulatory Elements for NPPB Gene

Promoters and enhancers for NPPB 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
GH01J011858 Promoter/Enhancer 1.3 EPDnew ENCODE dbSUPER 650.7 -0.1 -89 0.2 ZFP64 ZEB2 ZEB1 ZNF335 ZBTB48 GLIS1 PRDM10 ZBTB20 SP7 NPPB LOC390997
GH01J011859 Enhancer 1.2 ENCODE dbSUPER 650.7 -0.5 -544 0.2 MLX ARID4B SIN3A DMAP1 ZBTB7B ZNF48 SLC30A9 ZNF766 GLIS2 CBX5 NPPB LOC390997
GH01J011860 Enhancer 1 ENCODE dbSUPER 650.7 -0.8 -824 0.2 SIN3A DMAP1 DNMT3B CHAMP1 ZNF335 ZNF614 ZNF766 NFKBIZ ZBTB25 MIER2 NPPB LOC390997
GH01J011856 Enhancer 0.4 dbSUPER 650.7 +2.0 1979 1 ZIC2 PRDM1 NPPB NPPA-AS1 RNU5E-1 RNU5E-4P LOC102724659 C1orf167 KIAA2013 MFN2 NPPA
GH01J011978 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.3 -123.8 -123797 8.6 CLOCK MLX ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC MFN2 EXOSC10 ENSG00000226849 TARDBP MIIP TNFRSF1B PLOD1 CLCN6 KIAA2013 RNU5E-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NPPB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NPPB gene promoter:
  • NRSF form 2
  • NRSF form 1
  • AP-1
  • Nkx2-5
  • c-Jun
  • ATF-2
  • CREB

Genomic Locations for NPPB Gene

Genomic Locations for NPPB Gene
chr1:11,857,464-11,858,935
(GRCh38/hg38)
Size:
1,472 bases
Orientation:
Minus strand
chr1:11,917,521-11,918,992
(GRCh37/hg19)
Size:
1,472 bases
Orientation:
Minus strand

Genomic View for NPPB Gene

Genes around NPPB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for NPPB Gene

Proteins for NPPB Gene

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

    Protein Symbol:
    P16860-ANFB_HUMAN
    Recommended name:
    Natriuretic peptides B
    Protein Accession:
    P16860
    Secondary Accessions:
    • B0ZBE9
    • Q6FGY0
    • Q9P2Q7

    Protein attributes for NPPB Gene

    Size:
    134 amino acids
    Molecular mass:
    14726 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA90441.1; Type=Frameshift; Positions=44; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NPPB Gene

neXtProt entry for NPPB Gene

Post-translational modifications for NPPB Gene

  • The brain natriuretic peptide 32 form is cleaved at Pro-104 by the prolyl endopeptidase FAP (seprase) activity (in vitro).
  • Glycosylation at Thr97, Thr84, isoforms=79, Thr74, isoforms=70, isoforms=63, and Thr62
  • Modification sites at PhosphoSitePlus

Other Protein References for NPPB Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Boster Bio Antibodies for NPPB

No data available for DME Specific Peptides for NPPB Gene

Domains & Families for NPPB Gene

Gene Families for NPPB Gene

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

Protein Domains for NPPB Gene

Suggested Antigen Peptide Sequences for NPPB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P16860

UniProtKB/Swiss-Prot:

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

Function for NPPB Gene

Molecular function for NPPB Gene

UniProtKB/Swiss-Prot Function:
Cardiac hormone which may function as a paracrine antifibrotic factor in the heart. Also plays a key role in cardiovascular homeostasis through natriuresis, diuresis, vasorelaxation, and inhibition of renin and aldosterone secretion. Specifically binds and stimulates the cGMP production of the NPR1 receptor. Binds the clearance receptor NPR3.
GENATLAS Biochemistry:
natriuretic peptide precursor B,predominantly expressed in ventricles,also expressed in atria,present in the circulation and directly influencing blood pressure and body fluid homeostasis

Phenotypes From GWAS Catalog for NPPB Gene

Gene Ontology (GO) - Molecular Function for NPPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IPI 12727915
GO:0005179 hormone activity NAS 7601467
GO:0005515 protein binding IPI 25416956
GO:0008613 diuretic hormone activity TAS 14960748
GO:0051427 hormone receptor binding IPI 1660465
genes like me logo Genes that share ontologies with NPPB: view
genes like me logo Genes that share phenotypes with NPPB: view

Animal Model Products

CRISPR Products

miRNA for NPPB Gene

miRTarBase miRNAs that target NPPB

Inhibitory RNA Products

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

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NPPB Gene

Localization for NPPB Gene

Subcellular locations from UniProtKB/Swiss-Prot for NPPB Gene

Secreted.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for NPPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS 14960748
GO:0005615 extracellular space NAS 7601467
GO:0032991 protein-containing complex IDA 16870210
genes like me logo Genes that share ontologies with NPPB: view

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

Pathways & Interactions for NPPB Gene

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

Pathways by source for NPPB Gene

1 BioSystems pathway for NPPB Gene
1 KEGG pathway for NPPB Gene

Gene Ontology (GO) - Biological Process for NPPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006182 cGMP biosynthetic process IDA 1672777
GO:0006457 protein folding IDA 16870210
GO:0007166 cell surface receptor signaling pathway NAS 12727915
GO:0007168 receptor guanylyl cyclase signaling pathway IDA 1672777
GO:0007589 body fluid secretion TAS 14960748
genes like me logo Genes that share ontologies with NPPB: view

No data available for SIGNOR curated interactions for NPPB Gene

Drugs & Compounds for NPPB Gene

(110) Drugs for NPPB Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carvedilol Approved, Investigational Pharma Antagonist, Target, other 173
Testosterone Approved, Investigational Pharma Endogenous androgen receptor agonist 594
oxymetholone Approved, Illicit Pharma Target 0
Water Approved Pharma 0
Aldosterone Experimental, Investigational Pharma Agonist 0

(43) Additional Compounds for NPPB Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
8-Hydroxycarvedilol
genes like me logo Genes that share compounds with NPPB: view

Transcripts for NPPB Gene

mRNA/cDNA for NPPB Gene

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

Unigene Clusters for NPPB Gene

Natriuretic peptide B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

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

No ASD Table

Relevant External Links for NPPB Gene

GeneLoc Exon Structure for
NPPB
ECgene alternative splicing isoforms for
NPPB

Expression for NPPB Gene

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

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

This gene is overexpressed in Heart - Atrial Appendage (x37.9) and Heart - Left Ventricle (x14.7).

Protein differential expression in normal tissues from HIPED for NPPB Gene

This gene is overexpressed in Plasma (69.0).

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



Protein tissue co-expression partners for NPPB Gene

NURSA nuclear receptor signaling pathways regulating expression of NPPB Gene:

NPPB

SOURCE GeneReport for Unigene cluster for NPPB Gene:

Hs.219140

mRNA Expression by UniProt/SwissProt for NPPB Gene:

P16860-ANFB_HUMAN
Tissue specificity: Brain and also in atria, but at much lower levels than ANP.

Evidence on tissue expression from TISSUES for NPPB Gene

  • Heart(4.4)
  • Muscle(4.2)
  • Pancreas(4)
  • Spleen(4)
  • Nervous system(2.9)
  • Blood(2.8)
genes like me logo Genes that share expression patterns with NPPB: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for NPPB Gene

Orthologs for NPPB Gene

This gene was present in the common ancestor of chordates.

Orthologs for NPPB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NPPB 34 33
  • 99 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NPPB 34 33
  • 73.13 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NPPB 34 33
  • 67.86 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NPPB 34
  • 34 (a)
OneToOne
chicken
(Gallus gallus)
Aves NPPA 34
  • 28 (a)
OneToOne
Species where no ortholog for NPPB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for NPPB Gene

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

Paralogs for NPPB Gene

No data available for Paralogs for NPPB Gene

Variants for NPPB Gene

Sequence variations from dbSNP and Humsavar for NPPB Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000181116 -- 11,859,531(-) C/T upstream_transcript_variant
rs1000285064 -- 11,857,893(-) C/T intron_variant
rs1000622449 -- 11,858,870(-) T/G 5_prime_UTR_variant
rs1000694639 -- 11,859,120(-) T/C upstream_transcript_variant
rs1000720725 -- 11,859,974(-) C/A upstream_transcript_variant

Variation tolerance for NPPB Gene

Residual Variation Intolerance Score: 83.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.20; 24.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NPPB Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NPPB Gene

Disorders for NPPB Gene

MalaCards: The human disease database

(65) MalaCards diseases for NPPB Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
constrictive pericarditis
  • pericarditis constrictive
systolic heart failure
  • heart failure, systolic
cardiogenic shock
  • shock cardiogenic
acute cor pulmonale
pulmonary valve insufficiency
  • pulmonary incompetence
- elite association - COSMIC cancer census association via MalaCards
Search NPPB in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NPPB

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

No data available for UniProtKB/Swiss-Prot and Genatlas for NPPB Gene

Publications for NPPB Gene

  1. Dysfunctional corin i555(p568) allele is associated with impaired brain natriuretic peptide processing and adverse outcomes in blacks with systolic heart failure: results from the Genetic Risk Assessment in Heart Failure substudy. (PMID: 19919978) Rame JE … Dries DL (Circulation. Heart failure 2009) 3 22 44 58
  2. A novel variable number of tandem repeat of the natriuretic peptide precursor B gene's 5'-flanking region is associated with essential hypertension among Japanese females. (PMID: 17554401) Kosuge K … Matsumoto K (International journal of medical sciences 2007) 3 22 44 58
  3. Association between the T-381C polymorphism of the brain natriuretic peptide gene and risk of type 2 diabetes in human populations. (PMID: 17412758) Meirhaeghe A … Amouyel P (Human molecular genetics 2007) 3 22 44 58
  4. Mutation analysis of the natriuretic peptide precursor B (NPPB) gene in patients with hypertrophic cardiomyopathy. (PMID: 17343213) Chiu C … Semsarian C (DNA sequence : the journal of DNA sequencing and mapping 2006) 3 22 44 58
  5. Association of the -381T/C promoter variation of the brain natriuretic peptide gene with low bone-mineral density and rapid postmenopausal bone loss. (PMID: 12601551) Kajita M … Emi M (Journal of human genetics 2003) 3 22 44 58

Products for NPPB Gene

  • Addgene plasmids for NPPB

Sources for NPPB Gene

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