NPPA (natriuretic peptide A) - Rat Genome Database
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Gene: NPPA (natriuretic peptide A) Homo sapiens
Analyze
Symbol: NPPA
Name: natriuretic peptide A
RGD ID: 730878
HGNC Page HGNC
Description: Exhibits hormone receptor binding activity; neuropeptide hormone activity; and neuropeptide receptor binding activity. Involved in several processes, including negative regulation of signal transduction; positive regulation of heart contraction; and regulation of ion transmembrane transport. Localizes to protein-containing complex. Implicated in artery disease (multiple); heart conduction disease (multiple); and peritonitis. Biomarker of several diseases, including chronic kidney disease; diabetic retinopathy; heart disease (multiple); obesity; and renal hypertension.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ANF; ANP; ATFB6; atrial natriuretic factor; atrial natriuretic factor prohormone; atrial natriuretic peptide prohormone; atriopeptigen; atriopeptin; ATRST2; cardiodilatin; cardiodilatin-related peptide; cardionatrin; CDD; CDD-ANF; CDP; natriuretic peptide precursor A; natriuretic peptide precursor A variant 1; natriuretic peptides A; PND; preproANP; preproCDD-ANF; prepronatriodilatin; proANF; proANP
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl111,845,709 - 11,848,345 (-)EnsemblGRCh38hg38GRCh38
GRCh38111,845,709 - 11,847,783 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37111,905,766 - 11,907,840 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,828,363 - 11,830,422 (-)NCBINCBI36hg18NCBI36
Build 34111,840,041 - 11,842,101NCBI
Celera111,019,389 - 11,021,472 (-)NCBI
Cytogenetic Map1p36.22NCBI
HuRef111,060,823 - 11,062,905 (-)NCBIHuRef
CHM1_1111,893,660 - 11,895,736 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute kidney failure  (EXP,ISO)
Acute Lung Injury  (IDA)
adenocarcinoma  (EXP)
aortic valve insufficiency  (EXP)
atrial standstill 1  (EXP)
atrial standstill 2  (IAGP)
brain ischemia  (IAGP)
Cardiac Arrhythmias  (IAGP)
Cardiomegaly  (EXP,ISO)
chronic kidney disease  (IEP)
congestive heart failure  (EXP,IEP,ISO)
Contrast-Induced Nephropathy  (IDA)
coronary artery disease  (IAGP)
coronary stenosis  (EXP)
Diabetic Cardiomyopathies  (ISO)
Diabetic Nephropathies  (IAGP,IEP,ISO)
diabetic retinopathy  (IEP)
Diaphragmatic Hernia  (EXP)
diastolic heart failure  (EXP)
dilated cardiomyopathy  (EXP)
Experimental Diabetes Mellitus  (ISO)
familial atrial fibrillation  (IEA)
Familial Atrial Fibrillation 6  (IAGP)
glomerulonephritis  (IEP)
heart disease  (IEP)
Hypercapnia  (EXP)
hypertension  (EXP,ISO)
hypertrophic cardiomyopathy  (ISO)
Hypotension  (EXP)
Hypoxia  (EXP)
Kidney Reperfusion Injury  (IDA)
Left Ventricular Hypertrophy  (EXP,ISO)
liver cirrhosis  (EXP)
Lung Neoplasms  (EXP)
melanoma  (EXP)
myocardial infarction  (EXP,IAGP,ISO)
Myocardial Ischemia  (EXP)
Neoplasm Metastasis  (EXP)
nephrosis  (ISO)
obesity  (IEP)
Pain  (EXP)
patent ductus arteriosus  (EXP)
peritonitis  (IDA)
Prostatic Neoplasms  (EXP)
pulmonary hypertension  (ISO)
renal hypertension  (EXP,IDA,IEP,ISO)
Right Ventricular Hypertrophy  (ISO)
Skin Neoplasms  (EXP)
small cell carcinoma  (EXP)
Stroke  (IAGP)
Transplant Rejection  (IDA)
type 2 diabetes mellitus  (ISO)
ureteral obstruction  (EXP,ISO)
Urination Disorders  (EXP)
vascular dementia  (IAGP)
Ventricular Remodeling  (EXP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(5Z,8Z,11Z,13E)-15-HETE  (EXP)
(R)-mevalonic acid  (ISO)
(R)-noradrenaline  (ISO)
1-octadec-9-enoylglycero-3-phosphate  (ISO)
11-deoxycorticosterone  (ISO)
17beta-estradiol  (EXP,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)
2-acetyloxy-4-(trifluoromethyl)benzoic acid  (ISO)
3',5'-cyclic GMP  (EXP,ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-iodobenzyl-5'-N-methylcarboxamidoadenosine  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4'-epidoxorubicin  (EXP)
5-(1,4-diazepane-1-sulfonyl)isoquinoline  (ISO)
5-azacytidine  (ISO)
5-fluorouracil  (ISO)
8-(3-chlorostyryl)caffeine  (ISO)
8-(4-chlorophenylthio)-cGMP  (ISO)
acetic acid  (ISO)
aflatoxin B2  (EXP)
aldehydo-D-glucose  (ISO)
aldosterone  (EXP,ISO)
aldrithiol  (ISO)
all-trans-retinoic acid  (EXP)
alprenolol  (ISO)
amiodarone  (ISO)
amlodipine  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
argipressin  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
atenolol  (EXP)
atorvastatin calcium  (ISO)
atrazine  (EXP)
atropine  (ISO)
benazepril  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (ISO)
betaxolol  (ISO)
bisphenol A  (EXP,ISO)
BQ 123  (ISO)
bromochloroacetic acid  (ISO)
C60 fullerene  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
caffeine  (ISO)
calcitriol  (ISO)
candesartan  (ISO)
candoxatrilat  (ISO)
capsazepine  (ISO)
carbon monoxide  (ISO)
carvedilol  (EXP,ISO)
CGS-21680  (ISO)
chelerythrine  (ISO)
choline  (ISO)
cilazapril monohydrate  (EXP)
cinnamic acid  (ISO)
clofibrate  (ISO)
clonidine  (ISO)
clonidine (amino form)  (ISO)
clonidine (imino form)  (ISO)
cobalt dichloride  (ISO)
cocaine  (EXP,ISO)
colforsin daropate hydrochloride  (ISO)
copper(II) sulfate  (EXP)
corticosterone  (ISO)
cortisol  (EXP)
cucurbitacin I  (ISO)
curcumin  (ISO)
cyanamide  (ISO)
cyclosporin A  (ISO)
D-glucose  (ISO)
D-mannitol  (EXP)
dantrolene  (ISO)
daunorubicin  (ISO)
dexamethasone  (ISO)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
digoxin  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (ISO)
doxorubicin  (EXP,ISO)
DPCPX  (ISO)
EC 3.4.15.1 (peptidyl-dipeptidase A) inhibitor  (EXP)
edaravone  (ISO)
enalapril  (EXP,ISO)
ethanol  (ISO)
fasudil hydrochloride  (ISO)
felodipine  (EXP)
fenofibrate  (ISO)
fenvalerate  (ISO)
folic acid  (ISO)
fulvestrant  (ISO)
furosemide  (EXP)
gefitinib  (ISO)
gentamycin  (ISO)
glucose  (ISO)
glycerol  (EXP)
graphite  (ISO)
GSK2181236A  (ISO)
Guanabenz  (ISO)
GW 501516  (ISO)
haloperidol  (ISO)
hydrogen peroxide  (ISO)
indinavir  (ISO)
indometacin  (EXP,ISO)
indoxyl sulfate  (ISO)
irbesartan  (EXP)
isoprenaline  (ISO)
KT 5720  (ISO)
L-methionine  (ISO)
labetalol  (EXP)
lamivudine  (ISO)
leptomycin B  (ISO)
lipopolysaccharide  (ISO)
lisinopril dihydrate  (EXP)
losartan  (ISO)
lovastatin  (ISO)
LY294002  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
manidipine  (ISO)
mercury dichloride  (ISO)
metformin  (ISO)
metoprolol  (ISO)
mifepristone  (ISO)
milrinone  (ISO)
monocrotaline  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
naloxone  (EXP)
nifedipine  (ISO)
nitric oxide  (ISO)
nitrofen  (ISO)
NSC 23766  (ISO)
omapatrilat  (EXP)
ouabain  (ISO)
paricalcitol  (ISO)
pentobarbital  (ISO)
phenformin  (ISO)
phenylephrine  (EXP,ISO)
phorbol 13-acetate 12-myristate  (ISO)
pirinixic acid  (ISO)
Plantamajoside  (ISO)
prazosin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP,ISO)
propofol  (ISO)
propranolol  (ISO)
prostaglandin E1  (EXP)
prostaglandin E2  (ISO)
pyrrolidine dithiocarbamate  (ISO)
quercetin  (ISO)
quinapril hydrochloride  (ISO)
resveratrol  (EXP,ISO)
ruthenium red  (ISO)
S-nitroso-N-acetyl-D-penicillamine  (ISO)
SB 203580  (ISO)
sildenafil citrate  (ISO)
simvastatin  (ISO)
sirolimus  (ISO)
sodium chloride  (ISO)
spermine  (ISO)
spironolactone  (EXP,ISO)
staurosporine  (ISO)
streptozocin  (ISO)
sulforaphane  (ISO)
sunitinib  (ISO)
tacrolimus hydrate  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
torasemide  (ISO)
trans-cinnamic acid  (ISO)
trans-piceid  (ISO)
trichostatin A  (ISO)
tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate  (ISO)
tunicamycin  (EXP)
tyrphostin AG 1478  (ISO)
U-73122  (ISO)
urethane  (EXP)
UTP  (ISO)
valproic acid  (EXP,ISO)
valsartan  (ISO)
verapamil  (EXP)
Vinpocetine  (ISO)
xestospongin C  (ISO)
Y-27632  (ISO)
zidovudine  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
amyloid fibril formation  (TAS)
aortic valve morphogenesis  (TAS)
cardiac conduction system development  (NAS)
cardiac muscle hypertrophy in response to stress  (IEA,ISO)
cell growth involved in cardiac muscle cell development  (IEA,ISO)
cellular response to mechanical stimulus  (IEA,ISO)
cGMP biosynthetic process  (IBA,IDA)
cGMP-mediated signaling  (IBA,IEA,ISO)
female pregnancy  (IEA,ISO,ISS)
negative regulation of canonical Wnt signaling pathway  (IDA)
negative regulation of cell growth  (IEA,ISO)
negative regulation of collecting lymphatic vessel constriction  (IEA,ISO)
negative regulation of epidermal growth factor receptor signaling pathway  (IDA)
negative regulation of JUN kinase activity  (IDA)
negative regulation of systemic arterial blood pressure  (IBA,IEA,ISO)
neuropeptide signaling pathway  (IBA,IDA)
positive regulation of cardiac muscle contraction  (IMP)
positive regulation of cGMP-mediated signaling  (IEA,ISO)
positive regulation of delayed rectifier potassium channel activity  (IDA,IEA,ISO)
positive regulation of heart rate  (IMP)
positive regulation of histamine secretion by mast cell  (IEA,ISO)
positive regulation of potassium ion export across plasma membrane  (IDA,IEA,ISO)
protein folding  (IDA)
receptor guanylyl cyclase signaling pathway  (IBA,IDA,IEA,ISO)
regulation of atrial cardiac muscle cell membrane repolarization  (IMP)
regulation of blood pressure  (IDA,ISO)
regulation of calcium ion transmembrane transport via high voltage-gated calcium channel  (IEA,ISO,ISS)
regulation of cardiac conduction  (TAS)
regulation of high voltage-gated calcium channel activity  (IEA,ISO,ISS)
response to hypoxia  (IEA,ISO)
response to insulin  (IEA,ISO)
response to muscle stretch  (TAS)
signal transduction  (IEA)
transcription initiation from RNA polymerase II promoter  (TAS)
vasodilation  (IEA)

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
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10. GOA_HUMAN data from the GO Consortium
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28. OMIM Disease Annotation Pipeline
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32. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
33. RGD automated import pipeline for gene-chemical interactions
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Additional References at PubMed
PMID:1309330   PMID:1660465   PMID:1672777   PMID:1826098   PMID:2169733   PMID:2531377   PMID:2934979   PMID:2972276   PMID:3158606   PMID:6095118   PMID:6095119   PMID:6097248  
PMID:6203042   PMID:6230082   PMID:6238331   PMID:6542248   PMID:6547996   PMID:7857923   PMID:8043577   PMID:8301666   PMID:9232196   PMID:10880574   PMID:11408388   PMID:11409652  
PMID:11447495   PMID:11884416   PMID:11985060   PMID:12052474   PMID:12082592   PMID:12102171   PMID:12135603   PMID:12145475   PMID:12190955   PMID:12193960   PMID:12270761   PMID:12477932  
PMID:12484513   PMID:12505872   PMID:12542678   PMID:12547834   PMID:12687344   PMID:12777209   PMID:12794112   PMID:12883099   PMID:12890912   PMID:12960255   PMID:14523183   PMID:14698679  
PMID:14718574   PMID:15033935   PMID:15118286   PMID:15276478   PMID:15489334   PMID:15542826   PMID:15604093   PMID:15648549   PMID:15666592   PMID:15837528   PMID:16100725   PMID:16113566  
PMID:16117728   PMID:16291573   PMID:16368448   PMID:16710414   PMID:16713569   PMID:16721833   PMID:16870210   PMID:16875975   PMID:16962475   PMID:17036337   PMID:17051589   PMID:17219958  
PMID:17243909   PMID:17259761   PMID:17292492   PMID:17460430   PMID:17525707   PMID:17580193   PMID:17584735   PMID:17672826   PMID:17693975   PMID:17702963   PMID:17890443   PMID:17890485  
PMID:17900714   PMID:17901852   PMID:17927564   PMID:17943627   PMID:17984371   PMID:18092954   PMID:18172431   PMID:18212314   PMID:18243818   PMID:18280250   PMID:18294255   PMID:18513389  
PMID:18539145   PMID:18614783   PMID:18633189   PMID:18660489   PMID:18713751   PMID:18759454   PMID:18855222   PMID:18989245   PMID:19008326   PMID:19046820   PMID:19086053   PMID:19131662  
PMID:19141362   PMID:19146799   PMID:19155075   PMID:19219041   PMID:19238444   PMID:19263529   PMID:19264973   PMID:19326473   PMID:19330901   PMID:19346663   PMID:19387964   PMID:19420105  
PMID:19430483   PMID:19458086   PMID:19479237   PMID:19559392   PMID:19564455   PMID:19578796   PMID:19597492   PMID:19635983   PMID:19646991   PMID:19666519   PMID:19671135   PMID:19702001  
PMID:19729120   PMID:19729601   PMID:19845278   PMID:19913121   PMID:19948975   PMID:20024606   PMID:20026756   PMID:20064500   PMID:20137368   PMID:20346360   PMID:20368210   PMID:20407391  
PMID:20416077   PMID:20452482   PMID:20453667   PMID:20530040   PMID:20536507   PMID:20543198   PMID:20577119   PMID:20628086   PMID:20673868   PMID:20680650   PMID:20700369   PMID:20726994  
PMID:20872251   PMID:20877298   PMID:21073007   PMID:21216831   PMID:21276088   PMID:21349128   PMID:21408188   PMID:21450637   PMID:21600847   PMID:21672517   PMID:21689370   PMID:21734186  
PMID:21741108   PMID:21744319   PMID:21757823   PMID:21798427   PMID:21873635   PMID:21881323   PMID:21892902   PMID:21952518   PMID:21992849   PMID:22112816   PMID:22113444   PMID:22285803  
PMID:22370591   PMID:22399583   PMID:22400494   PMID:22575314   PMID:22595807   PMID:22962310   PMID:22981931   PMID:23258247   PMID:23275345   PMID:23279037   PMID:23542086   PMID:23637347  
PMID:23690218   PMID:23799939   PMID:23867623   PMID:23905909   PMID:24030529   PMID:24041948   PMID:24101702   PMID:24166646   PMID:24220659   PMID:24315351   PMID:24487939   PMID:24498905  
PMID:24586593   PMID:24599027   PMID:24617620   PMID:24654911   PMID:24673969   PMID:24853905   PMID:24906365   PMID:24973596   PMID:25123163   PMID:25129277   PMID:25252038   PMID:25371308  
PMID:25400811   PMID:25401746   PMID:25416956   PMID:25775533   PMID:25864764   PMID:25917967   PMID:26074089   PMID:26200358   PMID:26244664   PMID:26499263   PMID:26616294   PMID:26686590  
PMID:26720342   PMID:26748496   PMID:26801306   PMID:26987266   PMID:27101535   PMID:27136577   PMID:27197849   PMID:27220692   PMID:27343265   PMID:27413750   PMID:27559042   PMID:27846213  
PMID:28076299   PMID:28096288   PMID:28195503   PMID:28229930   PMID:28252040   PMID:28338810   PMID:28431065   PMID:28456775   PMID:28514442   PMID:28630469   PMID:28768468   PMID:29209941  
PMID:29237677   PMID:29253899   PMID:29302701   PMID:29325903   PMID:29523263   PMID:29604419   PMID:30027789   PMID:30262711   PMID:31077706   PMID:31186350   PMID:31269783   PMID:31341238  
PMID:31350276   PMID:31477203   PMID:31503546   PMID:31521687   PMID:31830996   PMID:32126847   PMID:32296183   PMID:32380971   PMID:32702064  


Genomics

Comparative Map Data
NPPA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl111,845,709 - 11,848,345 (-)EnsemblGRCh38hg38GRCh38
GRCh38111,845,709 - 11,847,783 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37111,905,766 - 11,907,840 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,828,363 - 11,830,422 (-)NCBINCBI36hg18NCBI36
Build 34111,840,041 - 11,842,101NCBI
Celera111,019,389 - 11,021,472 (-)NCBI
Cytogenetic Map1p36.22NCBI
HuRef111,060,823 - 11,062,905 (-)NCBIHuRef
CHM1_1111,893,660 - 11,895,736 (-)NCBICHM1_1
Nppa
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394148,085,179 - 148,086,531 (+)NCBIGRCm39mm39
GRCm39 Ensembl4148,085,179 - 148,086,536 (+)Ensembl
GRCm384148,000,722 - 148,002,074 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4148,000,722 - 148,002,079 (+)EnsemblGRCm38mm10GRCm38
MGSCv374147,374,855 - 147,376,176 (+)NCBIGRCm37mm9NCBIm37
MGSCv364146,844,546 - 146,845,867 (+)NCBImm8
Celera4150,267,117 - 150,268,440 (+)NCBICelera
Cytogenetic Map4E1NCBI
cM Map478.66NCBI
Nppa
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25158,429,042 - 158,430,351 (+)NCBI
Rnor_6.0 Ensembl5164,808,323 - 164,809,705 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.05164,808,407 - 164,809,716 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.05168,466,309 - 168,467,618 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45165,074,518 - 165,075,827 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15165,084,713 - 165,086,000 (+)NCBI
Celera5156,710,885 - 156,712,194 (+)NCBICelera
RH 3.4 Map51106.6RGD
Cytogenetic Map5q36NCBI
Nppa
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554862,060,735 - 2,063,003 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554862,061,196 - 2,062,805 (+)NCBIChiLan1.0ChiLan1.0
NPPA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1111,825,072 - 11,827,452 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl111,825,072 - 11,827,373 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0110,608,025 - 10,610,287 (-)NCBIMhudiblu_PPA_v0panPan3
NPPA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl284,396,073 - 84,408,385 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1284,406,317 - 84,408,115 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Nppa
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936474671,362 - 673,610 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NPPA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl671,919,495 - 71,932,254 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1671,919,557 - 71,921,345 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2665,829,057 - 65,830,990 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NPPA
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120119,942,412 - 119,946,211 (+)NCBI
ChlSab1.1 Ensembl20119,944,532 - 119,945,917 (+)Ensembl
Nppa
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248181,147,654 - 1,149,722 (+)NCBI

Position Markers
RH80468  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,905,774 - 11,906,033UniSTSGRCh37
Build 36111,828,361 - 11,828,620RGDNCBI36
Celera111,019,397 - 11,019,656RGD
Cytogenetic Map1p36.21UniSTS
HuRef111,060,831 - 11,061,090UniSTS
GeneMap99-GB4 RH Map151.31UniSTS
GDB:196313  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,906,017 - 11,906,148UniSTSGRCh37
Build 36111,828,604 - 11,828,735RGDNCBI36
Celera111,019,640 - 11,019,771RGD
Cytogenetic Map1p36.21UniSTS
HuRef111,061,074 - 11,061,205UniSTS
GDB:226664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,906,017 - 11,907,365UniSTSGRCh37
Build 36111,828,604 - 11,829,952RGDNCBI36
Celera111,019,640 - 11,020,997RGD
Cytogenetic Map1p36.21UniSTS
HuRef111,061,074 - 11,062,430UniSTS
GDB:549199  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,907,744 - 11,907,950UniSTSGRCh37
Build 36111,830,331 - 11,830,537RGDNCBI36
Celera111,021,376 - 11,021,582RGD
Cytogenetic Map1p36.21UniSTS
HuRef111,062,809 - 11,063,015UniSTS
Nppa  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,907,729 - 11,908,107UniSTSGRCh37
GRCh37111,907,171 - 11,907,352UniSTSGRCh37
Build 36111,830,316 - 11,830,694RGDNCBI36
Celera111,020,803 - 11,020,984UniSTS
Celera111,021,361 - 11,021,739RGD
HuRef111,062,794 - 11,063,172UniSTS
HuRef111,062,236 - 11,062,417UniSTS
SHGC-74238  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,905,859 - 11,906,026UniSTSGRCh37
Build 36111,828,446 - 11,828,613RGDNCBI36
Celera111,019,482 - 11,019,649RGD
Cytogenetic Map1p36.21UniSTS
HuRef111,060,916 - 11,061,083UniSTS
TNG Radiation Hybrid Map16443.0UniSTS
GeneMap99-GB4 RH Map151.31UniSTS
Nppa  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,907,729 - 11,908,107UniSTSGRCh37
GRCh37111,907,171 - 11,907,352UniSTSGRCh37
Build 36111,830,316 - 11,830,694RGDNCBI36
Celera111,020,803 - 11,020,984UniSTS
Celera111,021,361 - 11,021,739RGD
HuRef111,062,794 - 11,063,172UniSTS
HuRef111,062,236 - 11,062,417UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:609
Count of miRNA genes:413
Interacting mature miRNAs:457
Transcripts:ENST00000376476, ENST00000376480
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.


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 470 1 1 28 2 1
Medium 183 447 120 12 57 5 363 422 292 1 333 171 6 98 250 1
Low 1977 1850 1304 397 1496 250 3570 1579 3157 162 911 1205 150 1087 2372
Below cutoff 201 203 247 175 264 168 353 117 223 182 140 164 13 18 154 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000376476   ⟹   ENSP00000365659
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl111,845,879 - 11,848,345 (-)Ensembl
RefSeq Acc Id: ENST00000376480   ⟹   ENSP00000365663
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl111,845,709 - 11,847,783 (-)Ensembl
RefSeq Acc Id: ENST00000610706   ⟹   ENSP00000483195
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl111,845,712 - 11,847,783 (-)Ensembl
RefSeq Acc Id: NM_006172   ⟹   NP_006163
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,845,709 - 11,847,783 (-)NCBI
GRCh37111,905,766 - 11,907,840 (-)ENTREZGENE
Build 36111,828,363 - 11,830,422 (-)NCBI Archive
HuRef111,060,823 - 11,062,905 (-)ENTREZGENE
CHM1_1111,893,660 - 11,895,736 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006163   ⟸   NM_006172
- Peptide Label: preproprotein
- UniProtKB: P01160 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000483195   ⟸   ENST00000610706
RefSeq Acc Id: ENSP00000365659   ⟸   ENST00000376476
RefSeq Acc Id: ENSP00000365663   ⟸   ENST00000376480

Promoters
RGD ID:6850072
Promoter ID:EP11132
Type:single initiation site
Name:HS_NPPA
Description:Pronatriodilatin, Atrial natriuretic factor, NPPA or PND gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 83; Mammalian pronatriodilatin
Tissues & Cell Lines:cardiac atrium
Experiment Methods:Primer extension with homologous sequence ladder
Position:
Human AssemblyChrPosition (strand)Source
Build 36111,830,425 - 11,830,485EPD
RGD ID:6785355
Promoter ID:HG_KWN:711
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:ENST00000376476,   OTTHUMT00000006852
Position:
Human AssemblyChrPosition (strand)Source
Build 36111,830,654 - 11,831,154 (-)MPROMDB
RGD ID:6854120
Promoter ID:EPDNEW_H225
Type:multiple initiation site
Name:NPPA_1
Description:natriuretic peptide A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H226  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,847,782 - 11,847,842EPDNEW
RGD ID:6854122
Promoter ID:EPDNEW_H226
Type:initiation region
Name:NPPA_2
Description:natriuretic peptide A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H225  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,848,366 - 11,848,426EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006172.4(NPPA):c.198G>A (p.Pro66=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000552907] Chr1:11847365 [GRCh38]
Chr1:11907422 [GRCh37]
Chr1:1p36.22
likely benign
NM_006172.4(NPPA):c.197C>T (p.Pro66Leu) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000542702] Chr1:11847366 [GRCh38]
Chr1:11907423 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_006172.4(NPPA):c.123+16C>T single nucleotide variant Cardiac arrhythmia [RCV000030342]|not specified [RCV000244593] Chr1:11847546 [GRCh38]
Chr1:11907603 [GRCh37]
Chr1:1p36.22
benign
NM_006172.4(NPPA):c.456_*1del (p.Ter152TrpextTer?) deletion Atrial fibrillation, familial, 6 [RCV000019366] Chr1:11846008..11846009 [GRCh38]
Chr1:11906065..11906066 [GRCh37]
Chr1:1p36.22
pathogenic
NM_006172.4(NPPA):c.190A>C (p.Ser64Arg) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000114741]|not provided [RCV000857935]|not specified [RCV000780554] Chr1:11847373 [GRCh38]
Chr1:11907430 [GRCh37]
Chr1:1p36.22
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain 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
NM_006172.4(NPPA):c.449G>A (p.Arg150Gln) single nucleotide variant Atrial standstill 2 [RCV000114740] Chr1:11847114 [GRCh38]
Chr1:11907171 [GRCh37]
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
NM_006172.4(NPPA):c.454T>C (p.Ter152Arg) single nucleotide variant not specified [RCV000220174] Chr1:11846011 [GRCh38]
Chr1:11906068 [GRCh37]
Chr1:1p36.22
benign
chr1:909238-16736132 complex variant complex Ductal breast carcinoma [RCV000207094] Chr1:909238..16736132 [GRCh37]
Chr1:1p36.33-36.13
uncertain significance
NM_006172.4(NPPA):c.252C>T (p.Thr84=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000230212] Chr1:11847311 [GRCh38]
Chr1:11907368 [GRCh37]
Chr1:1p36.22
likely benign
NM_006172.4(NPPA):c.253G>A (p.Gly85Arg) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000233070]|Atrial fibrillation, familial, 6 [RCV000764958] Chr1:11847310 [GRCh38]
Chr1:11907367 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_006172.4(NPPA):c.78T>A (p.Asn26Lys) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000227474] Chr1:11847607 [GRCh38]
Chr1:11907664 [GRCh37]
Chr1:1p36.22
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
NM_006172.4(NPPA):c.272A>G (p.Gln91Arg) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000531190]|not specified [RCV001194229] Chr1:11847291 [GRCh38]
Chr1:11907348 [GRCh37]
Chr1:1p36.22
benign|likely benign|uncertain significance
NM_006172.4(NPPA):c.171C>T (p.Val57=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000527384] Chr1:11847392 [GRCh38]
Chr1:11907449 [GRCh37]
Chr1:1p36.22
likely benign
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
NM_006172.4(NPPA):c.279T>G (p.Asp93Glu) single nucleotide variant not provided [RCV000522731] Chr1:11847284 [GRCh38]
Chr1:11907341 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_006172.4(NPPA):c.135C>T (p.Asp45=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000459509] Chr1:11847428 [GRCh38]
Chr1:11907485 [GRCh37]
Chr1:1p36.22
likely benign
NM_006172.4(NPPA):c.172G>A (p.Val58Met) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000460903] Chr1:11847391 [GRCh38]
Chr1:11907448 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_006172.4(NPPA):c.292G>A (p.Gly98Arg) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000469485] Chr1:11847271 [GRCh38]
Chr1:11907328 [GRCh37]
Chr1:1p36.22
likely benign
NM_006172.4(NPPA):c.83T>C (p.Met28Thr) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000473745]|not specified [RCV000780553] Chr1:11847602 [GRCh38]
Chr1:11907659 [GRCh37]
Chr1:1p36.22
benign|likely benign
NM_006172.4(NPPA):c.206A>C (p.Glu69Ala) single nucleotide variant not provided [RCV000498887] Chr1:11847357 [GRCh38]
Chr1:11907414 [GRCh37]
Chr1:1p36.22
uncertain significance
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
NM_006172.4(NPPA):c.23C>T (p.Thr8Ile) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000646142] Chr1:11847662 [GRCh38]
Chr1:11907719 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_006172.4(NPPA):c.176C>T (p.Pro59Leu) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000646143] Chr1:11847387 [GRCh38]
Chr1:11907444 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_006172.4(NPPA):c.273_274GA[2] (p.Asp93fs) microsatellite Atrial fibrillation, familial, 6 [RCV000646144] Chr1:11847285..11847286 [GRCh38]
Chr1:11907342..11907343 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_006172.4(NPPA):c.425G>A (p.Ser142Asn) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000541350] Chr1:11847138 [GRCh38]
Chr1:11907195 [GRCh37]
Chr1:1p36.22
uncertain significance
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
NM_006172.4(NPPA):c.85T>C (p.Tyr29His) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000704211] Chr1:11847600 [GRCh38]
Chr1:11907657 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_006172.4(NPPA):c.352C>A (p.Leu118Met) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000701253]|not specified [RCV000780552] Chr1:11847211 [GRCh38]
Chr1:11907268 [GRCh37]
Chr1:1p36.22
likely benign|uncertain significance
NM_006172.4(NPPA):c.219_227del (p.Ser75_Leu77del) deletion Atrial fibrillation, familial, 6 [RCV000694965] Chr1:11847336..11847344 [GRCh38]
Chr1:11907393..11907401 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_006172.4(NPPA):c.370A>G (p.Ser124Gly) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000696540] Chr1:11847193 [GRCh38]
Chr1:11907250 [GRCh37]
Chr1:1p36.22
uncertain significance
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
NM_006172.4(NPPA):c.48A>G (p.Ala16=) single nucleotide variant not provided [RCV000993917] Chr1:11847637 [GRCh38]
Chr1:11907694 [GRCh37]
Chr1:1p36.22
likely benign
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
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_006172.4(NPPA):c.159A>G (p.Leu53=) single nucleotide variant not provided [RCV000902021] Chr1:11847404 [GRCh38]
Chr1:11907461 [GRCh37]
Chr1:1p36.22
likely benign
GRCh37/hg19 1p36.22(chr1:9852396-11909475)x1 copy number loss not provided [RCV001005065] Chr1:9852396..11909475 [GRCh37]
Chr1:1p36.22
likely pathogenic
NM_006172.4(NPPA):c.112A>G (p.Met38Val) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000798450] Chr1:11847573 [GRCh38]
Chr1:11907630 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_006172.4(NPPA):c.367C>A (p.Arg123=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000807674] Chr1:11847196 [GRCh38]
Chr1:11907253 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_006172.4(NPPA):c.350C>T (p.Ala117Val) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000796917] Chr1:11847213 [GRCh38]
Chr1:11907270 [GRCh37]
Chr1:1p36.22
uncertain significance
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 1p36.22-36.21(chr1:11794553-12786444)x3 copy number gain See cases [RCV000790593] Chr1:11794553..12786444 [GRCh37]
Chr1:1p36.22-36.21
pathogenic
NM_006172.4(NPPA):c.208G>T (p.Ala70Ser) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000795825] Chr1:11847355 [GRCh38]
Chr1:11907412 [GRCh37]
Chr1:1p36.22
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
NC_000001.11:g.(?_11012634)_(11934865_?)del deletion Atrial fibrillation, familial, 6 [RCV001031444] Chr1:11072691..11994922 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_006172.4(NPPA):c.16_18ACC[2] (p.Thr8del) microsatellite Atrial fibrillation, familial, 6 [RCV001044604] Chr1:11847661..11847663 [GRCh38]
Chr1:11907718..11907720 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_006172.4(NPPA):c.319C>T (p.Arg107Ter) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001219807] Chr1:11847244 [GRCh38]
Chr1:11907301 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_006172.4(NPPA):c.368G>A (p.Arg123Gln) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001205207] Chr1:11847195 [GRCh38]
Chr1:11907252 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_006172.4(NPPA):c.337A>G (p.Ser113Gly) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001242256] Chr1:11847226 [GRCh38]
Chr1:11907283 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_006172.4(NPPA):c.24C>T (p.Thr8=) single nucleotide variant not provided [RCV000952108] Chr1:11847661 [GRCh38]
Chr1:11907718 [GRCh37]
Chr1:1p36.22
likely benign
NM_006172.4(NPPA):c.377G>A (p.Arg126Gln) single nucleotide variant Vascular dementia [RCV001263186]   uncertain significance
NM_006172.4(NPPA):c.426C>T (p.Ser142=) single nucleotide variant not specified [RCV001174917] Chr1:11847137 [GRCh38]
Chr1:11907194 [GRCh37]
Chr1:1p36.22
likely benign
NM_006172.4(NPPA):c.25G>A (p.Val9Met) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001214510] Chr1:11847660 [GRCh38]
Chr1:11907717 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_006172.4(NPPA):c.103G>A (p.Ala35Thr) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001207849] Chr1:11847582 [GRCh38]
Chr1:11907639 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_006172.4(NPPA):c.89A>G (p.Asn30Ser) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001037523] Chr1:11847596 [GRCh38]
Chr1:11907653 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_006172.4(NPPA):c.346_354del (p.Arg116_Leu118del) deletion Atrial fibrillation, familial, 6 [RCV001042132] Chr1:11847209..11847217 [GRCh38]
Chr1:11907266..11907274 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_006172.4(NPPA):c.118T>C (p.Phe40Leu) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001062850] Chr1:11847567 [GRCh38]
Chr1:11907624 [GRCh37]
Chr1:1p36.22
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7939 AgrOrtholog
COSMIC NPPA COSMIC
Ensembl Genes ENSG00000175206 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000365659 UniProtKB/TrEMBL
  ENSP00000365663 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000483195 UniProtKB/TrEMBL
Ensembl Transcript ENST00000376476 UniProtKB/TrEMBL
  ENST00000376480 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000610706 UniProtKB/TrEMBL
GTEx ENSG00000175206 GTEx
HGNC ID HGNC:7939 ENTREZGENE
Human Proteome Map NPPA Human Proteome Map
InterPro Natr_peptide UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Natr_peptide_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Natriuretic_peptide_atrial UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4878 UniProtKB/Swiss-Prot
NCBI Gene 4878 ENTREZGENE
OMIM 108780 OMIM
  612201 OMIM
  615745 OMIM
Pfam ANP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA256 PharmGKB
PRINTS ANATPEPTIDE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NATPEPTIDES UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NATRIURETIC_PEPTIDE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART NAT_PEP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087X094_HUMAN UniProtKB/TrEMBL
  ANF_HUMAN UniProtKB/Swiss-Prot
  B0ZBE8_HUMAN UniProtKB/TrEMBL
  P01160 ENTREZGENE
UniProt Secondary Q13766 UniProtKB/Swiss-Prot
  Q5JZE1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-08-16 NPPA  natriuretic peptide A  NPPA  natriuretic peptide A  Symbol and/or name change 5135510 APPROVED
2011-07-27 NPPA  natriuretic peptide A  NPPA  natriuretic peptide precursor A  Symbol and/or name change 5135510 APPROVED