Human Gene NPPB (ENST00000376468.4) Description and Page Index
  Description: Homo sapiens natriuretic peptide B (NPPB), mRNA. (from RefSeq NM_002521)
RefSeq Summary (NM_002521): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC025785.1, SRR5189655.214911.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148093, SAMEA2151741 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000376468.4/ ENSP00000365651.3 Protein has antimicrobial activity :: PMID: 11410403 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Gencode Transcript: ENST00000376468.4
Gencode Gene: ENSG00000120937.9
Transcript (Including UTRs)
   Position: hg38 chr1:11,857,464-11,858,945 Size: 1,482 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg38 chr1:11,857,655-11,858,833 Size: 1,179 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:11,857,464-11,858,945)mRNA (may differ from genome)Protein (134 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
Stanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  ID: ANFB_HUMAN
DESCRIPTION: RecName: Full=Natriuretic peptides B; AltName: Full=Gamma-brain natriuretic peptide; Contains: RecName: Full=Brain natriuretic peptide 32; Short=BNP(1-32); Short=BNP-32; Contains: RecName: Full=BNP(1-30); Contains: RecName: Full=BNP(1-29); Contains: RecName: Full=BNP(1-28); Contains: RecName: Full=BNP(2-31); Contains: RecName: Full=BNP(3-32); Contains: RecName: Full=BNP(3-30); Contains: RecName: Full=BNP(3-29); Contains: RecName: Full=BNP(4-32); Contains: RecName: Full=BNP(4-31); Contains: RecName: Full=BNP(4-30); Contains: RecName: Full=BNP(4-29); Contains: RecName: Full=BNP(4-27); Contains: RecName: Full=BNP(5-32); Contains: RecName: Full=BNP(5-31); Contains: RecName: Full=BNP(5-29); Flags: Precursor;
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.
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Brain and also in atria, but at much lower levels than ANP.
PHARMACEUTICAL: Available under the name Nesiritide (Scios). Used for the treatment of heart failure.
SIMILARITY: Belongs to the natriuretic peptide family.
SEQUENCE CAUTION: Sequence=BAA90441.1; Type=Frameshift; Positions=44;
WEB RESOURCE: Name=Wikipedia; Note=Brain natriuretic peptide entry; URL="http://en.wikipedia.org/wiki/Brain_natriuretic_peptide";

-  MalaCards Disease Associations
  MalaCards Gene Search: NPPB
Diseases sorted by gene-association score: heart disease (30), constrictive pericarditis (27), systolic heart failure (26), mitral valve insufficiency (25), central sleep apnea (24), cardiogenic shock (24), acute cor pulmonale (23), congestive heart failure (22), pulmonary valve insufficiency (22), tricuspid valve insufficiency (22), hypertensive heart disease (21), mitral valve stenosis (20), aortic valve insufficiency (20), congenitally corrected transposition of the great arteries (18), third-degree atrioventricular block (18), diastolic heart failure (18), pulmonary hypertension (15), patent ductus arteriosus (14), syndrome of inappropriate antidiuretic hormone (14), chronic thromboembolic pulmonary hypertension (13), acute myocardial infarction (13), inferior myocardial infarction (13), pulmonary embolism (13), coronary artery disease (12), chronic angina (12), atrioventricular block (12), ebstein anomaly (11), aortic valve disease 2 (11), cardiac tamponade (10), kawasaki disease (10), ventricular septal defect (10), pericardial effusion (9), atrial fibrillation (9), myocarditis (9), tracheal calcification (8), chagas disease (8), idiopathic edema (8), endocardial fibroelastosis (7), pulmonary edema (7), hand, foot and mouth disease (7), euthyroid sick syndrome (7), pericarditis (7), acute pulmonary heart disease (7), myocardial infarction (6), syncope (6), wolff-parkinson-white syndrome (6), toxic myocarditis (6), leukomalacia (6), chronic mountain sickness (6), sleep apnea (6), aortic valve disease 1 (6), renal hypertension (6), short-rib thoracic dysplasia 5 with or without polydactyly (5), tetralogy of fallot (5), ischemic heart disease (5), hypoplastic left heart syndrome (5), periventricular leukomalacia (5), transposition of the great arteries (5), dextro-looped transposition of the great arteries (5), epidemic typhus (5), tricuspid valve disease (4), dilated cardiomyopathy (4), ventricular tachycardia, catecholaminergic polymorphic, 1 (4), kidney disease (4), lung disease (3), artery disease (2), hypertension, essential (2), heart conduction disease (2), cardiomyopathy, familial hypertrophic (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1243.33 RPKM in Heart - Atrial Appendage
Total median expression: 1284.86 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -37.30112-0.333 Picture PostScript Text
3' UTR -34.80191-0.182 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000663 - Natr_peptide
IPR002408 - Natriuretic_peptide_brain

Pfam Domains:
PF00212 - Atrial natriuretic peptide

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1YK1
- X-ray MuPIT

3N56
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P16860
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005102 receptor binding
GO:0005179 hormone activity
GO:0005515 protein binding
GO:0008613 diuretic hormone activity
GO:0051427 hormone receptor binding

Biological Process:
GO:0006182 cGMP biosynthetic process
GO:0006457 protein folding
GO:0007166 cell surface receptor signaling pathway
GO:0007168 receptor guanylyl cyclase signaling pathway
GO:0007589 body fluid secretion
GO:0008217 regulation of blood pressure
GO:0010469 regulation of receptor activity
GO:0016525 negative regulation of angiogenesis
GO:0030308 negative regulation of cell growth
GO:0031640 killing of cells of other organism
GO:0035810 positive regulation of urine volume
GO:0035815 positive regulation of renal sodium excretion
GO:0043114 regulation of vascular permeability
GO:0050880 regulation of blood vessel size
GO:0097746 regulation of blood vessel diameter

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  BC025785 - Homo sapiens natriuretic peptide precursor B, mRNA (cDNA clone MGC:34579 IMAGE:5229356), complete cds.
E02602 - DNA encoding human brain natriuretic peptide(human BNP).
M25296 - Human natriuretic peptide precursor mRNA, complete cds.
E04397 - DNA sequence encoding human brain natriuretic peptide.
E04439 - DNA encoding recombinant hBNP(human Brain Natriuretic Peptide).
E04396 - DNA sequence encoding human brain natriuretic peptide.
E04438 - DNA encoding recombinant hBNP(human Brain Natriuretic Peptide).
JD437784 - Sequence 418808 from Patent EP1572962.
JD164878 - Sequence 145902 from Patent EP1572962.
CR541976 - Homo sapiens full open reading frame cDNA clone RZPDo834B0135D for gene NPPB, natriuretic peptide precursor B; complete cds, incl. stopcodon.
KJ891714 - Synthetic construct Homo sapiens clone ccsbBroadEn_01108 NPPB gene, encodes complete protein.
E05300 - DNA encoding human natriuetic peptide.
CR542003 - Homo sapiens full open reading frame cDNA clone RZPDo834E0135D for gene NPPB, natriuretic peptide precursor B; complete cds, without stopcodon.
JD370489 - Sequence 351513 from Patent EP1572962.
JD370330 - Sequence 351354 from Patent EP1572962.
JD370392 - Sequence 351416 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04270 - Vascular smooth muscle contraction

BioCarta from NCI Cancer Genome Anatomy Project
h_alkPathway - ALK in cardiac myocytes

-  Other Names for This Gene
  Alternate Gene Symbols: ANFB_HUMAN, B0ZBE9, NM_002521, P16860, Q6FGY0, Q9P2Q7, uc001atj.1, uc001atj.2, uc001atj.3, uc001atj.4, uc001atj.5
UCSC ID: uc001atj.5
RefSeq Accession: NM_002521
Protein: P16860 (aka ANFB_HUMAN)
CCDS: CCDS140.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.