NPPB (natriuretic peptide B) - Rat Genome Database

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Gene: NPPB (natriuretic peptide B) Homo sapiens
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Symbol: NPPB
Name: natriuretic peptide B
RGD ID: 69139
HGNC Page HGNC:7940
Description: Enables hormone receptor binding activity. Involved in several processes, including antimicrobial humoral immune response mediated by antimicrobial peptide; killing of cells of another organism; and receptor guanylyl cyclase signaling pathway. Part of protein-containing complex. Implicated in atherosclerosis; hypertension; myocardial infarction; obesity; and systolic heart failure. Biomarker of several diseases, including Kawasaki disease; artery disease (multiple); diabetes mellitus (multiple); heart disease (multiple); and kidney failure (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BNP; brain natriuretic factor prohormone; brain type natriuretic peptide; gamma-brain natriuretic peptide; Iso-ANP; natriuretic peptide precursor B; natriuretic peptides B; natriuretic protein; preproBNP; proBNP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for COVID-19 prognosis.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38111,857,464 - 11,858,945 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl111,857,464 - 11,858,945 (-)EnsemblGRCh38hg38GRCh38
GRCh37111,917,521 - 11,919,002 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,840,108 - 11,841,579 (-)NCBINCBI36Build 36hg18NCBI36
Build 34111,851,789 - 11,853,254NCBI
Celera111,031,156 - 11,032,627 (-)NCBICelera
Cytogenetic Map1p36.22NCBI
HuRef111,073,021 - 11,074,492 (-)NCBIHuRef
CHM1_1111,905,417 - 11,906,888 (-)NCBICHM1_1
T2T-CHM13v2.0111,401,560 - 11,403,041 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute kidney failure  (IEP,ISO)
adult respiratory distress syndrome  (IEP)
Animal Disease Models  (EXP)
anti-basement membrane glomerulonephritis  (ISO)
aortic valve insufficiency  (EXP)
atherosclerosis  (IAGP,IEP)
atrial fibrillation  (EXP)
Brain Injuries  (EXP,IEP)
Cardiomegaly  (EXP,ISO)
cardiomyopathy  (EXP)
Cardiotoxicity  (EXP)
cardiovascular system disease  (EXP)
Cerebral Hemorrhage  (EXP)
chronic kidney disease  (IEP)
congenital heart disease  (EXP)
congestive heart failure  (EXP,IEP,ISO)
Contrast-Induced Nephropathy  (IDA)
coronary artery disease  (EXP)
COVID-19  (IEP)
Death  (IEP)
diabetes mellitus  (IEP)
Diabetic Nephropathies  (IEP,ISO)
dilated cardiomyopathy  (EXP,IEP)
Dyspnea  (EXP)
Ehlers-Danlos syndrome kyphoscoliotic type 1  (IAGP)
Eisenmenger Complex  (IEP)
end stage renal disease  (IEP)
essential hypertension  (IEP)
Experimental Diabetes Mellitus  (ISO)
Familial Atrial Fibrillation 6  (IAGP)
heart disease  (EXP,IEP,ISO)
High Cardiac Output  (EXP)
hyperhomocysteinemia  (ISO)
hypertension  (EXP,IAGP,ISO)
hypertensive heart disease  (ISO)
Hypertensive Nephropathy  (ISO)
hypokalemia  (EXP)
Hyponatremia  (IEP)
Hypotension  (EXP)
immunodeficiency 14  (IAGP)
Inflammation  (EXP)
Insulin Resistance  (IEP)
Kawasaki disease  (IEP)
Left Ventricular Hypertrophy  (IEP,ISO)
liver cirrhosis  (IEP)
migraine  (IEP)
morbid obesity  (IEP)
myocardial infarction  (IDA,ISO)
Myocardial Reperfusion Injury  (ISO)
nephrosis  (ISO)
obesity  (IDA,ISO)
Pain  (EXP)
polycystic kidney disease  (ISO)
Postoperative Complications  (EXP)
proteinuria  (ISO)
pulmonary embolism  (IEP)
pulmonary hypertension  (EXP,IEP,ISO)
renal hypertension  (IEP,ISO)
sickle cell anemia  (EXP,IEP)
systolic heart failure  (IDA,IEP)
type 2 diabetes mellitus  (IEP,ISO)
ureteral obstruction  (EXP)
Vasovagal Syncope  (IEP)
Ventricular Dysfunction, Left  (EXP,ISO)
Ventricular Dysfunction, Right  (EXP)
Ventricular Remodeling  (EXP)
Ventricular Tachycardia  (EXP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(5Z,8Z,11Z,13E)-15-HETE  (EXP)
(R)-noradrenaline  (EXP)
1,10-phenanthroline  (EXP)
1,2-dimethylhydrazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (EXP)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5'-triiodo-L-thyronine  (ISO)
3,3',5'-triiodothyronine  (ISO)
3,5-diethoxycarbonyl-1,4-dihydrocollidine  (ISO)
3-[3-acetyl-4-[3-(tert-butylamino)-2-hydroxypropoxy]phenyl]-1,1-diethylurea  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
5-azacytidine  (ISO)
acetylsalicylic acid  (EXP,ISO)
aflatoxin B1  (EXP)
aldosterone  (EXP)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
arecoline  (ISO)
aspartame  (EXP)
atenolol  (EXP,ISO)
atorvastatin calcium  (ISO)
benazepril  (ISO)
benidipine  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (EXP,ISO)
betaxolol  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
bosentan  (EXP)
butyric acid  (ISO)
cadmium dichloride  (ISO)
caffeine  (ISO)
calcitriol  (ISO)
Candesartan cilexetil  (ISO)
captopril  (ISO)
carvedilol  (EXP,ISO)
chlorogenic acid  (ISO)
chromium atom  (EXP)
cisplatin  (EXP)
cobalt dichloride  (EXP)
cobalt(2+) sulfate  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
cucurbitacin I  (ISO)
cyclophosphamide  (EXP)
cyclosporin A  (EXP,ISO)
cytarabine  (EXP)
dantrolene  (ISO)
daunorubicin  (EXP,ISO)
decabromodiphenyl ether  (ISO)
dehydroepiandrosterone  (EXP)
dexamethasone  (EXP)
dibromine  (ISO)
digoxin  (EXP)
dinophysistoxin 1  (EXP)
dioxygen  (EXP,ISO)
dipyridamole  (EXP)
disulfiram  (EXP)
donepezil hydrochloride  (ISO)
dorsomorphin  (EXP)
doxazosin  (EXP,ISO)
doxorubicin  (EXP,ISO)
EC 3.4.15.1 (peptidyl-dipeptidase A) inhibitor  (EXP,ISO)
enalapril  (ISO)
endosulfan  (ISO)
ethanol  (EXP,ISO)
famotidine  (ISO)
fasudil  (ISO)
febuxostat  (ISO)
fenofibrate  (ISO)
folic acid  (ISO)
formaldehyde  (ISO)
fructose  (ISO)
fulvestrant  (EXP)
furan  (ISO)
gefitinib  (ISO)
gentamycin  (ISO)
glyburide  (ISO)
graphite  (ISO)
GW 501516  (ISO)
HET0016  (ISO)
hydralazine  (ISO)
hydrochlorothiazide  (ISO)
idarubicin  (EXP)
indoxyl sulfate  (ISO)
isoprenaline  (EXP,ISO)
ivermectin  (EXP)
lead nitrate  (ISO)
lipopolysaccharide  (ISO)
losartan  (ISO)
melatonin  (ISO)
melphalan  (EXP)
mercury dibromide  (EXP)
mercury dichloride  (ISO)
methotrexate  (EXP)
methylmercury chloride  (EXP)
metoprolol  (ISO)
monocrotaline  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
nebivolol  (EXP)
nickel sulfate  (EXP)
nifedipine  (ISO)
nitric oxide  (ISO)
nitrofen  (ISO)
nitroprusside  (EXP)
Olmesartan medoxomil  (ISO)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (ISO)
Pentoxifylline  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
phenylephrine  (ISO)
phenylhydrazine  (ISO)
phenylmercury acetate  (EXP)
pioglitazone  (EXP)
pirinixic acid  (ISO)
Plantamajoside  (ISO)
platycodin D  (ISO)
plumbagin  (ISO)
potassium chromate  (EXP)
pregabalin  (ISO)
progesterone  (ISO)
propranolol  (ISO)
prostaglandin E1  (EXP)
prostaglandin E2  (ISO)
pyrrolidine dithiocarbamate  (ISO)
quercetin  (ISO)
ramipril  (ISO)
resveratrol  (EXP,ISO)
rifampicin  (EXP)
rotenone  (EXP)
SB 203580  (ISO)
SB 431542  (EXP)
serpentine asbestos  (EXP)
sildenafil citrate  (EXP,ISO)
silicon dioxide  (EXP)
silver atom  (EXP,ISO)
silver(0)  (EXP,ISO)
simvastatin  (ISO)
sirolimus  (ISO)
sodium arsenite  (EXP)
spironolactone  (EXP)
streptozocin  (ISO)
sunitinib  (EXP,ISO)
tacrolimus hydrate  (ISO)
telmisartan  (EXP,ISO)
Temocapril hydrochloride  (EXP)
tert-butyl hydroperoxide  (EXP)
thalidomide  (EXP)
thiabendazole  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP)
valsartan  (EXP,ISO)
verapamil  (EXP)
verteporfin  (ISO)
vitamin E  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
antimicrobial humoral immune response mediated by antimicrobial peptide  (IDA)
blood vessel diameter maintenance  (IEA,NAS)
body fluid secretion  (TAS)
cardiac conduction system development  (NAS)
cardiac muscle hypertrophy in response to stress  (ISO)
cell growth involved in cardiac muscle cell development  (ISO)
cell surface receptor signaling pathway  (NAS)
cellular response to mechanical stimulus  (ISO)
cGMP biosynthetic process  (IBA,IDA)
cGMP-mediated signaling  (IBA)
coronary vasculature development  (ISO)
endothelial cell proliferation  (ISO)
heart development  (ISO)
homeostasis of number of cells  (ISO)
inflammatory response  (ISO)
killing of cells of another organism  (IDA)
MAPK cascade  (ISO)
negative regulation of angiogenesis  (TAS)
negative regulation of cell growth  (ISO,NAS)
negative regulation of cholangiocyte proliferation  (ISO)
negative regulation of smooth muscle cell proliferation  (ISO)
negative regulation of systemic arterial blood pressure  (IBA,ISO)
neuropeptide signaling pathway  (IBA)
positive regulation of cGMP-mediated signaling  (ISO)
positive regulation of collecting lymphatic vessel constriction  (ISO)
positive regulation of renal sodium excretion  (ISO,TAS)
positive regulation of urine volume  (ISO,TAS)
protein folding  (IDA)
receptor guanylyl cyclase signaling pathway  (IBA,IDA)
regulation of blood pressure  (NAS)
regulation of vascular permeability  (TAS)
response to calcium ion  (ISO)
response to hypoxia  (ISO)
response to lipopolysaccharide  (ISO)
response to nutrient levels  (ISO)
response to organic cyclic compound  (ISO)
response to oxygen levels  (ISO)
response to peptide hormone  (ISO)
response to xenobiotic stimulus  (ISO)
vasodilation  (IEA)

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. N-terminal pro-B-type natriuretic peptide as an indicator of disease severity in a heterogeneous group of patients with chronic precapillary pulmonary hypertension. Andreassen AK, etal., Am J Cardiol. 2006 Aug 15;98(4):525-9. Epub 2006 Jun 28.
2. Prognostic role of B-type natriuretic peptide in patients with diabetes and acute decompensated heart failure. Aspromonte N, etal., Diabet Med. 2007 Feb;24(2):124-30.
3. Log-transformed plasma level of brain natriuretic peptide during the acute phase of Kawasaki disease is quantitatively associated with myocardial dysfunction. Bang S, etal., Korean J Pediatr. 2011 Aug;54(8):340-4. Epub 2011 Aug 31.
4. Impact of the Look AHEAD Intervention on NT-pro Brain Natriuretic Peptide in Overweight and Obese Adults With Diabetes. Bertoni AG, etal., Obesity (Silver Spring). 2011 Sep 29. doi: 10.1038/oby.2011.296.
5. Impact of obesity on the expression profile of natriuretic Peptide system in a rat experimental model. Cabiati M, etal., PLoS One. 2013 Aug 29;8(8):e72959. doi: 10.1371/journal.pone.0072959.
6. Long-term cardiac pro-B-type natriuretic peptide gene delivery prevents the development of hypertensive heart disease in spontaneously hypertensive rats. Cataliotti A, etal., Circulation. 2011 Mar 29;123(12):1297-305. Epub 2011 Mar 14.
7. Ventricular function and natriuretic peptides in sequentially combined models of hypertension. Cavallero S, etal., Am J Physiol Heart Circ Physiol. 2010 Apr;298(4):H1290-9. doi: 10.1152/ajpheart.00911.2009. Epub 2010 Feb 5.
8. Novel protein therapeutics for systolic heart failure: chronic subcutaneous B-type natriuretic peptide. Chen HH, etal., J Am Coll Cardiol. 2012 Dec 4;60(22):2305-12. doi: 10.1016/j.jacc.2012.07.056. Epub 2012 Nov 1.
9. Increased natriuretic peptide receptor A and C gene expression in rats with pressure-overload cardiac hypertrophy. Christoffersen TE, etal., Am J Physiol Heart Circ Physiol. 2006 Apr;290(4):H1635-41. Epub 2005 Nov 4.
10. Serum levels of N--terminal proB--type natriuretic peptide in mechanically ventilated critically ill patients -- relation to tidal volume size and development of acute respiratory distress syndrome. Determann RM, etal., BMC Pulm Med. 2013 Jul 9;13(1):42.
11. B-type natriuretic peptide concentrations in contemporary Eisenmenger syndrome patients: predictive value and response to disease targeting therapy. Diller GP, etal., Heart. 2012 May;98(9):736-42. doi: 10.1136/heartjnl-2011-301522. Epub 2012 Mar 7.
12. N-terminal-pro-brain natriuretic peptide, but not brain natriuretic peptide, is increased in patients with severe obesity. Fernandes F, etal., Braz J Med Biol Res. 2007 Feb;40(2):153-8.
13. Prognostic value of NT-proBNP in patients with severe COVID-19. Gao L, etal., Respir Res. 2020 Apr 15;21(1):83. doi: 10.1186/s12931-020-01352-w.
14. Long-term effects of B-type natriuretic peptide infusion after acute myocardial infarction in a rat model. George I, etal., J Cardiovasc Pharmacol. 2010 Jan;55(1):14-20.
15. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
16. Plasma pro-B-type natriuretic peptide in the general population: screening for left ventricular hypertrophy and systolic dysfunction. Goetze JP, etal., Eur Heart J. 2006 Dec;27(24):3004-10. Epub 2006 Nov 21.
17. [Effects of buyang huanwu decoction on the sarcoplasmic reticulum calcium uptake in abdominal aortic constriction induced myocardial hypertrophic rats]. Gu YP, etal., Zhongguo Zhong Xi Yi Jie He Za Zhi. 2013 May;33(5):627-31.
18. Parallel gene expressions of IL-6 and BNP during cardiac hypertrophy complicated with diastolic dysfunction in spontaneously hypertensive rats. Haugen E, etal., Int J Cardiol. 2007 Jan 31;115(1):24-8. Epub 2006 Jun 8.
19. Studies on biochemical markers in cryoinfarction in rats. Hemalatha T, etal., Cryo Letters. 2006 Sep-Oct;27(5):311-8.
20. Hyperhomocysteinemia and myocardial expression of brain natriuretic peptide in rats. Herrmann M, etal., Clin Chem. 2007 Apr;53(4):773-80. Epub 2007 Feb 15.
21. B-type natriuretic peptide infusions in acute myocardial infarction. Hillock RJ, etal., Heart. 2008 May;94(5):617-22. Epub 2007 Jul 16.
22. Increased plasma levels and blunted effects of brain natriuretic peptide in rats with congestive heart failure. Hoffman A, etal., Am J Hypertens. 1991 Jul;4(7 Pt 1):597-601.
23. B-Type Natriuretic Peptide Deletion Leads to Progressive Hypertension, Associated Organ Damage, and Reduced Survival: Novel Model for Human Hypertension. Holditch SJ, etal., Hypertension. 2015 Jul;66(1):199-210. doi: 10.1161/HYPERTENSIONAHA.115.05610. Epub 2015 May 11.
24. B-type natriuretic peptide overexpression ameliorates hepatorenal fibrocystic disease in a rat model of polycystic kidney disease. Holditch SJ, etal., Kidney Int. 2017 Sep;92(3):657-668. doi: 10.1016/j.kint.2017.02.017. Epub 2017 Apr 14.
25. Effects of brain natriuretic peptide on contraction and intracellular Ca2+ in ventricular myocytes from the streptozotocin-induced diabetic rat. Howarth FC, etal., Ann N Y Acad Sci. 2006 Nov;1084:155-65.
26. Regional cardiac expression and concentration of natriuretic peptides in patients with severe chronic heart failure. Hystad ME, etal., Acta Physiol Scand. 2001 Apr;171(4):395-403.
27. Molecular forms of human brain natriuretic peptide (BNP) in plasma of patients on hemodialysis (HD). Ishizaka Y, etal., Clin Nephrol. 1995 Apr;43(4):237-42.
28. B-type natriuretic peptide versus amino terminal pro-B type natriuretic peptide: selecting the optimal heart failure marker in patients with impaired kidney function. Jafri L, etal., BMC Nephrol. 2013 May 31;14:117. doi: 10.1186/1471-2369-14-117.
29. B-type natriuretic peptide and risk of contrast-induced acute kidney injury in acute ST-segment-elevation myocardial infarction: a substudy from the HORIZONS-AMI trial. Jarai R, etal., Circ Cardiovasc Interv. 2012 Dec;5(6):813-20. doi: 10.1161/CIRCINTERVENTIONS.112.972356. Epub 2012 Nov 27.
30. A new, fast and reliable radioimmunoassay of brain natriuretic peptide in human plasma. Reference values in healthy subjects and in patients with different diseases. Jensen KT, etal., Scand J Clin Lab Invest. 1997 Oct;57(6):529-40.
31. Altered regulation of nitric oxide and natriuretic peptide system in cisplatin-induced nephropathy. Kim CS, etal., Regul Pept. 2012 Feb 10;174(1-3):65-70. doi: 10.1016/j.regpep.2011.12.001. Epub 2011 Dec 28.
32. Increased plasma type B natriuretic peptide in the acute phase of Kawasaki disease. Kishimoto S, etal., Pediatr Int. 2011 Oct;53(5):736-41. doi: 10.1111/j.1442-200X.2011.03351.x.
33. 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. Kosuge K, etal., Int J Med Sci. 2007 May 16;4(3):146-52.
34. N-terminal pro-Brain Natriuretic Peptide and Risk of Diabetes. Lazo M, etal., Diabetes. 2013 Jun 3.
35. N-terminal pro-brain natriuretic peptide and renal insufficiency as predictors of mortality in pulmonary hypertension. Leuchte HH, etal., Chest. 2007 Feb;131(2):402-9.
36. Clinical and pathological investigation of severe COVID-19 patients. Li S, etal., JCI Insight. 2020 May 19. pii: 138070. doi: 10.1172/jci.insight.138070.
37. NT Pro BNP Plasma Level and Atrial Volume Are Linked to the Severity of Liver Cirrhosis. Licata A, etal., PLoS One. 2013 Aug 5;8(8):e68364. doi: 10.1371/journal.pone.0068364. Print 2013.
38. NT-pro brain natriuretic peptide levels and the risk of death in the cooperative study of sickle cell disease. Machado RF, etal., Br J Haematol. 2011 Aug;154(4):512-20. doi: 10.1111/j.1365-2141.2011.08777.x. Epub 2011 Jun 21.
39. Transgenic overexpression of brain natriuretic peptide prevents the progression of diabetic nephropathy in mice. Makino H, etal., Diabetologia. 2006 Oct;49(10):2514-24. Epub 2006 Aug 18.
40. Experimental mild renal insufficiency mediates early cardiac apoptosis, fibrosis, and diastolic dysfunction: a kidney-heart connection. Martin FL, etal., Am J Physiol Regul Integr Comp Physiol. 2012 Jan 15;302(2):R292-9. doi: 10.1152/ajpregu.00194.2011. Epub 2011 Nov 9.
41. Increased S100B serum levels in dilated cardiomyopathy patients. Mazzini GS, etal., J Card Fail. 2007 Dec;13(10):850-4.
42. Cardiorenal syndrome in hypertensive rats: microalbuminuria, inflammation and ventricular hypertrophy. Moubarak M, etal., Physiol Res. 2012 Mar 6;61(1):13-24. Epub 2011 Dec 20.
43. Increased human brain natriuretic peptide in congestive heart failure. Mukoyama M, etal., N Engl J Med. 1990 Sep 13;323(11):757-8.
44. NT-proANP and BNP in renovascular and in severe and mild essential hypertension. Mussalo H, etal., Kidney Blood Press Res. 2003;26(1):34-41.
45. Rapid transcriptional activation and early mRNA turnover of brain natriuretic peptide in cardiocyte hypertrophy. Evidence for brain natriuretic peptide as an "emergency" cardiac hormone against ventricular overload. Nakagawa O, etal., J Clin Invest. 1995 Sep;96(3):1280-7.
46. Natriuretic peptides for early prediction of acute kidney injury in community-acquired pneumonia. Nowak A, etal., Clin Chim Acta. 2013 Apr 18;419:67-72. doi: 10.1016/j.cca.2013.01.014. Epub 2013 Feb 13.
47. Relationship of brain natriuretic peptide with metabolic syndrome parameters: an observational study. Oztekin S, etal., Anadolu Kardiyol Derg. 2011 Dec;11(8):678-84. doi: 10.5152/akd.2011.188. Epub 2011 Oct 28.
48. Vitamin D receptor activation, left ventricular hypertrophy and myocardial fibrosis. Panizo S, etal., Nephrol Dial Transplant. 2013 Sep 7.
49. Circulating atrial natriuretic peptide genetic association study identifies a novel gene cluster associated with stroke in whites. Pereira NL, etal., Circ Cardiovasc Genet. 2015 Feb;8(1):141-9. doi: 10.1161/CIRCGENETICS.114.000624. Epub 2014 Dec 1.
50. SNP rs198389 (T-381 C) polymorphism in the B-type natriuretic peptide gene promoter in patients with atherosclerotic renovascular hypertension. Poreba R, etal., Pol Arch Med Wewn. 2009 Apr;119(4):219-24.
51. Elevated N-terminal pro-brain natriuretic peptide is associated with increased mortality in patients with COVID-19: systematic review and meta-analysis. Pranata R, etal., Postgrad Med J. 2020 May 20. pii: postgradmedj-2020-137884. doi: 10.1136/postgradmedj-2020-137884.
52. B-type natriuretic peptide pretreatment attenuates heart ischemia-reperfusion injury in rats. Ren B, etal., Transplant Proc. 2010 Dec;42(10):4496-8.
53. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
54. B-type natriuretic peptides are reliable markers of cardiac strain in CKD pediatric patients. Rinat C, etal., Pediatr Nephrol. 2012 Apr;27(4):617-25. doi: 10.1007/s00467-011-2025-4. Epub 2011 Oct 27.
55. Detection of membrane-bound guanylate cyclase activity in rat C6 glioma cells at different growth states following activation by natriuretic peptides. Sorci G, etal., Brain Res. 1995 Jun 12;683(1):51-8.
56. Overexpression of brain natriuretic peptide in mice ameliorates immune-mediated renal injury. Suganami T, etal., J Am Soc Nephrol. 2001 Dec;12(12):2652-63.
57. Posttranscriptional Control of BNP Gene Expression in Angiotensin II-Induced Hypertension. Suo M, etal., Hypertension 2002 Mar 1;39(3):803-8.
58. The association of brain natriuretic peptide and insulin resistance in obesity-related hypertension. Tekes S and Cikim AS, J Hum Hypertens. 2007 Jul;21(7):546-50. Epub 2007 Mar 29.
59. Lack of association between polymorphisms of eight candidate genes and idiopathic dilated cardiomyopathy: the CARDIGENE study. Tiret L, etal., J Am Coll Cardiol. 2000 Jan;35(1):29-35.
60. Upregulated neurohumoral factors are associated with left ventricular remodeling and poor prognosis in rats with monocrotaline-induced pulmonary arterial hypertension. Usui S, etal., Circ J. 2006 Sep;70(9):1208-15.
61. Serum cytokine and pro-brain natriuretic peptide (BNP) levels in patients with migraine. Uzar E, etal., Eur Rev Med Pharmacol Sci. 2011 Oct;15(10):1111-6.
62. Forkhead class O transcription factor 3a activation and Sirtuin1 overexpression in the hypertrophied myocardium of the diabetic Goto-Kakizaki rat. Vahtola E, etal., J Hypertens. 2008 Feb;26(2):334-44.
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64. Opposite regulation of brain and C-type natriuretic peptides in the streptozotocin-diabetic cardiopathy. Walther T, etal., J Mol Endocrinol. 2000 Jun;24(3):391-5.
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PMID:29775443   PMID:29793175   PMID:29877684   PMID:29885699   PMID:29951921   PMID:29998930   PMID:30001941   PMID:30057391   PMID:30111510   PMID:30153838   PMID:30158031   PMID:30196305  
PMID:30205090   PMID:30217946   PMID:30223365   PMID:30242998   PMID:30287475   PMID:30540645   PMID:30595763   PMID:30626934   PMID:30636655   PMID:30711264   PMID:30721554   PMID:30763368  
PMID:30772761   PMID:30786848   PMID:30819103   PMID:30820654   PMID:30866636   PMID:30883813   PMID:30906526   PMID:30919605   PMID:30943979   PMID:30953905   PMID:30963739   PMID:31003870  
PMID:31019148   PMID:31063194   PMID:31092393   PMID:31128228   PMID:31175403   PMID:31200964   PMID:31272739   PMID:31280356   PMID:31307994   PMID:31330506   PMID:31418487   PMID:31441355  
PMID:31446828   PMID:31466059   PMID:31471993   PMID:31477203   PMID:31515488   PMID:31582139   PMID:31679767   PMID:31813354   PMID:31852642   PMID:31875779   PMID:31982876   PMID:32021144  
PMID:32057273   PMID:32070921   PMID:32074200   PMID:32090237   PMID:32126847   PMID:32172336   PMID:32187034   PMID:32188793   PMID:32209724   PMID:32255302   PMID:32284480   PMID:32296183  
PMID:32347644   PMID:32354356   PMID:32402829   PMID:32418966   PMID:32431194   PMID:32450480   PMID:32538758   PMID:32558327   PMID:32589688   PMID:32636124   PMID:32657561   PMID:32684218  
PMID:32684607   PMID:32693619   PMID:32802835   PMID:32838754   PMID:32882353   PMID:32919941   PMID:32921207   PMID:32926931   PMID:32972251   PMID:32988848   PMID:33025531   PMID:33058960  
PMID:33121714   PMID:33128247   PMID:33133305   PMID:33160126   PMID:33221779   PMID:33245872   PMID:33248864   PMID:33270715   PMID:33279592   PMID:33353469   PMID:33375031   PMID:33455978  
PMID:33510196   PMID:33563897   PMID:33678076   PMID:33691659   PMID:33709785   PMID:33720941   PMID:33888145   PMID:33955184   PMID:33961781   PMID:33990410   PMID:34021479   PMID:34044561  
PMID:34044565   PMID:34087618   PMID:34143704   PMID:34215247   PMID:34227029   PMID:34286378   PMID:34415953   PMID:34507853   PMID:34556318   PMID:34586748   PMID:34702775   PMID:34734498  
PMID:34750462   PMID:34763639   PMID:34798808   PMID:34940836   PMID:34961527   PMID:34980326   PMID:35044418   PMID:35089974   PMID:35167908   PMID:35169397   PMID:35183528   PMID:35215487  
PMID:35287945   PMID:35443466   PMID:35928924   PMID:36101804   PMID:36180827  


Genomics

Comparative Map Data
NPPB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38111,857,464 - 11,858,945 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl111,857,464 - 11,858,945 (-)EnsemblGRCh38hg38GRCh38
GRCh37111,917,521 - 11,919,002 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,840,108 - 11,841,579 (-)NCBINCBI36Build 36hg18NCBI36
Build 34111,851,789 - 11,853,254NCBI
Celera111,031,156 - 11,032,627 (-)NCBICelera
Cytogenetic Map1p36.22NCBI
HuRef111,073,021 - 11,074,492 (-)NCBIHuRef
CHM1_1111,905,417 - 11,906,888 (-)NCBICHM1_1
T2T-CHM13v2.0111,401,560 - 11,403,041 (-)NCBIT2T-CHM13v2.0
Nppb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394148,070,264 - 148,071,662 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4148,070,245 - 148,071,662 (+)EnsemblGRCm39 Ensembl
GRCm384147,985,786 - 147,987,205 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4147,985,788 - 147,987,205 (+)EnsemblGRCm38mm10GRCm38
MGSCv374147,359,898 - 147,361,314 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364146,829,697 - 146,830,998 (+)NCBIMGSCv36mm8
Celera4150,250,201 - 150,251,617 (+)NCBICelera
Cytogenetic Map4E1NCBI
cM Map478.57NCBI
Nppb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25158,416,813 - 158,418,175 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5158,416,866 - 158,418,168 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5161,133,613 - 161,134,915 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.05162,961,436 - 162,962,738 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.05162,917,783 - 162,919,085 (+)NCBIRnor_WKY
Rnor_6.05164,796,176 - 164,797,538 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5164,796,185 - 164,797,531 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05168,454,278 - 168,455,640 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45165,062,348 - 165,063,650 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15165,072,535 - 165,073,838 (+)NCBI
Celera5156,698,873 - 156,700,175 (+)NCBICelera
Cytogenetic Map5q36NCBI
Nppb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554862,054,775 - 2,056,130 (+)NCBIChiLan1.0ChiLan1.0
NPPB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1111,838,518 - 11,839,999 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl111,838,518 - 11,839,995 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0110,621,416 - 10,622,960 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
NPPB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1284,395,844 - 84,397,473 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha280,929,289 - 80,930,932 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0285,060,368 - 85,062,010 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl285,060,271 - 85,073,309 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1281,809,597 - 81,811,239 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0282,809,514 - 82,811,156 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0283,872,280 - 83,873,924 (+)NCBIUU_Cfam_GSD_1.0
Nppb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505834,858,528 - 34,860,962 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936474683,325 - 684,665 (-)EnsemblSpeTri2.0
SpeTri2.0NW_004936474683,325 - 684,662 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NPPB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl671,930,382 - 71,932,254 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1671,930,374 - 71,931,843 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2665,840,061 - 65,841,530 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NPPB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120119,930,931 - 119,933,391 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20119,932,021 - 119,933,197 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605423,799,168 - 23,801,437 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nppb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248181,139,776 - 1,141,010 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NPPB
7 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:140
Count of miRNA genes:130
Interacting mature miRNAs:138
Transcripts:ENST00000376468
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
G09534  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,918,885 - 11,919,009UniSTSGRCh37
Build 36111,841,472 - 11,841,596RGDNCBI36
Celera111,032,520 - 11,032,644RGD
Cytogenetic Map1p36.2UniSTS
HuRef111,074,385 - 11,074,509UniSTS
Whitehead-RH Map143.5UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 323 66 1 4
Medium 15 412 16 8 9 8 110 207 121 9 21 39 8 18
Low 770 997 528 119 252 81 1700 673 1791 47 561 511 43 494 1144 3
Below cutoff 1005 822 701 229 593 157 1823 888 1528 119 565 648 77 501 1209 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000376468   ⟹   ENSP00000365651
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl111,857,464 - 11,858,945 (-)Ensembl
RefSeq Acc Id: NM_002521   ⟹   NP_002512
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,857,464 - 11,858,945 (-)NCBI
GRCh37111,917,521 - 11,918,992 (-)ENTREZGENE
Build 36111,840,108 - 11,841,579 (-)NCBI Archive
HuRef111,073,021 - 11,074,492 (-)ENTREZGENE
CHM1_1111,905,417 - 11,906,888 (-)NCBI
T2T-CHM13v2.0111,401,560 - 11,403,041 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002512   ⟸   NM_002521
- Peptide Label: preproprotein
- UniProtKB: Q9P2Q7 (UniProtKB/Swiss-Prot),   P16860 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000365651   ⟸   ENST00000376468

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P16860-F1-model_v2 AlphaFold P16860 1-134 view protein structure

Promoters
RGD ID:6854124
Promoter ID:EPDNEW_H227
Type:initiation region
Name:NPPB_1
Description:natriuretic peptide B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,858,945 - 11,859,005EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p36.22-36.21(chr1:11654070-12768656)x3 copy number gain See cases [RCV000051460] Chr1:11654070..12768656 [GRCh38]
Chr1:11714127..12828807 [GRCh37]
Chr1:11636714..12751394 [NCBI36]
Chr1:1p36.22-36.21
uncertain significance
GRCh38/hg38 1p36.22(chr1:11737130-12169786)x3 copy number gain See cases [RCV000051461] Chr1:11737130..12169786 [GRCh38]
Chr1:11797187..12229843 [GRCh37]
Chr1:11719774..12152430 [NCBI36]
Chr1:1p36.22
uncertain significance
GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3 copy number gain See cases [RCV000051794] Chr1:6652339..12724844 [GRCh38]
Chr1:6712399..12784811 [GRCh37]
Chr1:6634986..12707398 [NCBI36]
Chr1:1p36.31-36.21
pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|See cases [RCV000051795] Chr1:6853513..17326813 [GRCh38]
Chr1:6913573..17685411 [GRCh37]
Chr1:6836160..17557998 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
GRCh38/hg38 1p36.22(chr1:11684360-11885011)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053184]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053184]|See cases [RCV000053184] Chr1:11684360..11885011 [GRCh38]
Chr1:11744417..11945068 [GRCh37]
Chr1:11667004..11867655 [NCBI36]
Chr1:1p36.22
uncertain significance
GRCh38/hg38 1p36.32-36.21(chr1:2963330-12666744)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|See cases [RCV000053713] Chr1:2963330..12666744 [GRCh38]
Chr1:2879895..12726755 [GRCh37]
Chr1:2869755..12649342 [NCBI36]
Chr1:1p36.32-36.21
pathogenic
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 copy number loss See cases [RCV000053714] Chr1:3006193..17688934 [GRCh38]
Chr1:2922757..18015429 [GRCh37]
Chr1:2912617..17888016 [NCBI36]
Chr1:1p36.32-36.13
pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1 copy number loss See cases [RCV000053724] Chr1:4898439..13111056 [GRCh38]
Chr1:4958499..13178528 [GRCh37]
Chr1:4858359..13101115 [NCBI36]
Chr1:1p36.32-36.21
pathogenic
GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1 copy number loss See cases [RCV000053760] Chr1:10556797..22557907 [GRCh38]
Chr1:10616854..22884400 [GRCh37]
Chr1:10539441..22756987 [NCBI36]
Chr1:1p36.22-36.12
pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1 copy number loss See cases [RCV000053763] Chr1:10621776..16520709 [GRCh38]
Chr1:10681833..16847204 [GRCh37]
Chr1:10604420..16719791 [NCBI36]
Chr1:1p36.22-36.13
pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1 copy number loss See cases [RCV000053765] Chr1:10809039..16422500 [GRCh38]
Chr1:10869096..16748995 [GRCh37]
Chr1:10791683..16621582 [NCBI36]
Chr1:1p36.22-36.13
pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1 copy number loss See cases [RCV000053766] Chr1:11121625..16324498 [GRCh38]
Chr1:11181682..16650993 [GRCh37]
Chr1:11104269..16523580 [NCBI36]
Chr1:1p36.22-36.13
pathogenic
GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1 copy number loss See cases [RCV000053755] Chr1:7165036..13111056 [GRCh38]
Chr1:7225096..13178528 [GRCh37]
Chr1:7147683..13101115 [NCBI36]
Chr1:1p36.23-36.21
pathogenic
GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1 copy number loss See cases [RCV000053756] Chr1:9034671..16441465 [GRCh38]
Chr1:9094730..16767960 [GRCh37]
Chr1:9017317..16640547 [NCBI36]
Chr1:1p36.23-36.13
pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:9406722-12852772)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]|See cases [RCV000053757] Chr1:9406722..12852772 [GRCh38]
Chr1:9466781..12912625 [GRCh37]
Chr1:9389368..12835212 [NCBI36]
Chr1:1p36.22-36.21
pathogenic
GRCh38/hg38 1p36.22(chr1:10203955-12060262)x1 copy number loss See cases [RCV000053758] Chr1:10203955..12060262 [GRCh38]
Chr1:10264013..12120319 [GRCh37]
Chr1:10186600..12042906 [NCBI36]
Chr1:1p36.22
pathogenic
GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1 copy number loss See cases [RCV000133779] Chr1:9064492..12666744 [GRCh38]
Chr1:9124551..12726755 [GRCh37]
Chr1:9047138..12649342 [NCBI36]
Chr1:1p36.23-36.21
pathogenic
GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1 copy number loss See cases [RCV000135807] Chr1:8283694..12470133 [GRCh38]
Chr1:8343754..12530188 [GRCh37]
Chr1:8266341..12452775 [NCBI36]
Chr1:1p36.23-36.22
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1 copy number loss See cases [RCV000136695] Chr1:844347..12470133 [GRCh38]
Chr1:779727..12530188 [GRCh37]
Chr1:769590..12452775 [NCBI36]
Chr1:1p36.33-36.22
pathogenic|likely pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1 copy number loss See cases [RCV000137461] Chr1:4898439..12911913 [GRCh38]
Chr1:4958499..12971757 [GRCh37]
Chr1:4858359..12894344 [NCBI36]
Chr1:1p36.32-36.21
pathogenic
GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1 copy number loss See cases [RCV000137948] Chr1:6303641..15799093 [GRCh38]
Chr1:6363701..16125588 [GRCh37]
Chr1:6286288..15998175 [NCBI36]
Chr1:1p36.31-36.21
pathogenic|likely benign
GRCh38/hg38 1p36.22(chr1:11737130-12006139)x3 copy number gain See cases [RCV000139615] Chr1:11737130..12006139 [GRCh38]
Chr1:11797187..12066196 [GRCh37]
Chr1:11719774..11988783 [NCBI36]
Chr1:1p36.22
uncertain significance
GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1 copy number loss See cases [RCV000140873] Chr1:9428538..15815791 [GRCh38]
Chr1:9488597..16142286 [GRCh37]
Chr1:9411184..16014873 [NCBI36]
Chr1:1p36.22-36.21
pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3 copy number gain See cases [RCV000141823] Chr1:11021751..15236671 [GRCh38]
Chr1:11081808..15563167 [GRCh37]
Chr1:11004395..15435754 [NCBI36]
Chr1:1p36.22-36.21
likely pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1 copy number loss See cases [RCV000141438] Chr1:10264397..15780840 [GRCh38]
Chr1:10324455..16107335 [GRCh37]
Chr1:10247042..15979922 [NCBI36]
Chr1:1p36.22-36.21
pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3 copy number gain See cases [RCV000142906] Chr1:6554885..16056011 [GRCh38]
Chr1:6614945..16382506 [GRCh37]
Chr1:6537532..16255093 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 copy number loss See cases [RCV000142771] Chr1:5363826..18360302 [GRCh38]
Chr1:5423886..18686796 [GRCh37]
Chr1:5323746..18559383 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
Single allele complex Ductal breast carcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11
uncertain significance
chr1:909238-16736132 complex variant complex Ductal breast carcinoma [RCV000207094] Chr1:909238..16736132 [GRCh37]
Chr1:1p36.33-36.13
uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1 copy number loss See cases [RCV000239416] Chr1:82154..12699337 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3 copy number gain See cases [RCV000240284] Chr1:8255222..12785220 [GRCh37]
Chr1:1p36.23-36.21
likely pathogenic
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1 copy number loss See cases [RCV000240403] Chr1:746608..15077159 [GRCh37]
Chr1:1p36.33-36.21
pathogenic
GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1 copy number loss See cases [RCV000446359] Chr1:4558588..13187457 [GRCh37]
Chr1:1p36.32-36.21
pathogenic
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 copy number loss See cases [RCV000446470] Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12
pathogenic
GRCh37/hg19 1p36.22-36.21(chr1:10722955-12910774)x1 copy number loss See cases [RCV000510444] Chr1:10722955..12910774 [GRCh37]
Chr1:1p36.22-36.21
likely pathogenic
GRCh37/hg19 1p36.22-36.21(chr1:11143298-13709344)x3 copy number gain See cases [RCV000510407] Chr1:11143298..13709344 [GRCh37]
Chr1:1p36.22-36.21
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.22-36.21(chr1:10722725-14267773)x1 copy number loss See cases [RCV000512501] Chr1:10722725..14267773 [GRCh37]
Chr1:1p36.22-36.21
likely pathogenic
GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1 copy number loss See cases [RCV000512226] Chr1:8850514..16272383 [GRCh37]
Chr1:1p36.23-36.13
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.22(chr1:11831595-12128498)x3 copy number gain not provided [RCV000736406] Chr1:11831595..12128498 [GRCh37]
Chr1:1p36.22
benign
GRCh37/hg19 1p36.22-36.21(chr1:11794553-12786444)x3 copy number gain See cases [RCV000790593] Chr1:11794553..12786444 [GRCh37]
Chr1:1p36.22-36.21
pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_002521.3(NPPB):c.74G>T (p.Arg25Leu) single nucleotide variant not provided [RCV000882537] Chr1:11858760 [GRCh38]
Chr1:11918817 [GRCh37]
Chr1:1p36.22
benign
NM_002521.3(NPPB):c.280G>T (p.Val94Phe) single nucleotide variant not provided [RCV000969980] Chr1:11858322 [GRCh38]
Chr1:11918379 [GRCh37]
Chr1:1p36.22
benign
GRCh37/hg19 1p36.22-36.21(chr1:11690766-12835739) copy number loss not provided [RCV000767547] Chr1:11690766..12835739 [GRCh37]
Chr1:1p36.22-36.21
pathogenic
NM_002521.3(NPPB):c.215G>A (p.Arg72His) single nucleotide variant not provided [RCV000895831] Chr1:11858387 [GRCh38]
Chr1:11918444 [GRCh37]
Chr1:1p36.22
benign
NM_002521.3(NPPB):c.54T>C (p.His18=) single nucleotide variant not provided [RCV000958421] Chr1:11858780 [GRCh38]
Chr1:11918837 [GRCh37]
Chr1:1p36.22
benign
GRCh37/hg19 1p36.22-36.21(chr1:10246640-12841900)x1 copy number loss not provided [RCV000846372] Chr1:10246640..12841900 [GRCh37]
Chr1:1p36.22-36.21
uncertain significance
GRCh37/hg19 1p36.22(chr1:11846836-12055790)x1 copy number loss not provided [RCV000847324] Chr1:11846836..12055790 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_002521.3(NPPB):c.237C>T (p.Ser79=) single nucleotide variant not provided [RCV000950045] Chr1:11858365 [GRCh38]
Chr1:11918422 [GRCh37]
Chr1:1p36.22
benign
NM_002521.3(NPPB):c.388+10C>A single nucleotide variant not provided [RCV000970036] Chr1:11858204 [GRCh38]
Chr1:11918261 [GRCh37]
Chr1:1p36.22
benign
NC_000001.11:g.(?_11012634)_(11934865_?)del deletion Atrial fibrillation, familial, 6 [RCV001031444] Chr1:11072691..11994922 [GRCh37]
Chr1:1p36.22
uncertain significance
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1 copy number loss not provided [RCV001832902] Chr1:849466..17525065 [GRCh37]
Chr1:1p36.33-36.13
pathogenic
NC_000001.10:g.(?_6485016)_(12569078_?)del deletion not provided [RCV001940096] Chr1:6485016..12569078 [GRCh37]
Chr1:1p36.31-36.22
uncertain significance
NC_000001.10:g.(?_11850737)_(12569078_?)dup duplication not provided [RCV001877528] Chr1:11850737..12569078 [GRCh37]
Chr1:1p36.22
uncertain significance
NC_000001.10:g.(?_11906018)_(11994922_?)dup duplication Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001991675] Chr1:11906018..11994922 [GRCh37]
Chr1:1p36.22
uncertain significance
NC_000001.10:g.(?_8616514)_(12476900_?)dup duplication Immunodeficiency 14 [RCV001920571] Chr1:8616514..12476900 [GRCh37]
Chr1:1p36.23-36.22
uncertain significance
Single allele duplication not specified [RCV002286386] Chr1:10115497..16283149 [GRCh38]
Chr1:1p36.22-36.13
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7940 AgrOrtholog
COSMIC NPPB COSMIC
Ensembl Genes ENSG00000120937 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000365651 ENTREZGENE
  ENSP00000365651.3 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000376468 ENTREZGENE
  ENST00000376468.4 UniProtKB/Swiss-Prot
GTEx ENSG00000120937 GTEx
HGNC ID HGNC:7940 ENTREZGENE
Human Proteome Map NPPB Human Proteome Map
InterPro Natr_peptide UniProtKB/Swiss-Prot
  Natr_peptide_CS UniProtKB/Swiss-Prot
  Natriuretic_peptide_brain UniProtKB/Swiss-Prot
KEGG Report hsa:4879 UniProtKB/Swiss-Prot
NCBI Gene 4879 ENTREZGENE
OMIM 600295 OMIM
Pfam ANP UniProtKB/Swiss-Prot
PharmGKB NPPB RGD, PharmGKB
PRINTS BNATPEPTIDE UniProtKB/Swiss-Prot
PROSITE NATRIURETIC_PEPTIDE UniProtKB/Swiss-Prot
SMART NAT_PEP UniProtKB/Swiss-Prot
UniProt ANFB_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9P2Q7 ENTREZGENE
UniProt Secondary B0ZBE9 UniProtKB/Swiss-Prot
  Q6FGY0 UniProtKB/Swiss-Prot
  Q9P2Q7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 NPPB  natriuretic peptide B  NPPB  natriuretic peptide precursor B  Symbol and/or name change 5135510 APPROVED