NPPA (natriuretic peptide A)

2003-05-01  

Identity

HGNC
NPPA
LOCATION
1p36.22
LOCUSID
4878
ALIAS
ANF,ANP,ATFB6,ATRST2,CDD,CDD-ANF,CDP,PND

Other Information

Locus ID:

NCBI: 4878
MIM: 108780
HGNC: 7939
Ensembl: ENSG00000175206

Variants:

dbSNP: 4878
ClinVar: 4878
TCGA: ENSG00000175206
COSMIC: NPPA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000175206ENST00000376476B0ZBE8
ENSG00000175206ENST00000376480P01160
ENSG00000175206ENST00000610706A0A087X094

Expression (GTEx)

0
5000
10000
15000
20000
25000
30000
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
HIF-1 signaling pathwayKEGGhsa04066
Metabolism of proteinsREACTOMER-HSA-392499
Amyloid fiber formationREACTOMER-HSA-977225
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
YAP1- and WWTR1 (TAZ)-stimulated gene expressionREACTOMER-HSA-2032785
Muscle contractionREACTOMER-HSA-397014
Cardiac conductionREACTOMER-HSA-5576891
Physiological factorsREACTOMER-HSA-5578768

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166128188systolic blood pressureDiseaseVariantAnnotationassociatedPD18212314
PA443635Cardiovascular DiseasesDiseaseClinicalAnnotationassociatedPD18212314
PA443797Coronary DiseaseDiseaseClinicalAnnotationassociatedPD18212314
PA444552HypertensionDiseaseVariantAnnotationassociatedPD18212314
PA447054StrokeDiseaseClinicalAnnotationassociatedPD18212314
PA448388amlodipineChemicalClinicalAnnotationassociatedPD18212314
PA448970chlorthalidoneChemicalClinicalAnnotation, VariantAnnotationassociatedPD18212314

References

Pubmed IDYearTitleCitations
192190412009Association of common variants in NPPA and NPPB with circulating natriuretic peptides and blood pressure.149
192190412009Association of common variants in NPPA and NPPB with circulating natriuretic peptides and blood pressure.149
186147832008Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation.96
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
168759752006Association of atrial natriuretic peptide and type a natriuretic peptide receptor gene polymorphisms with left ventricular mass in human essential hypertension.46
168759752006Association of atrial natriuretic peptide and type a natriuretic peptide receptor gene polymorphisms with left ventricular mass in human essential hypertension.46
212168312011Decompensated heart failure is associated with reduced corin levels and decreased cleavage of pro-atrial natriuretic peptide.41
221128162012Low plasma level of atrial natriuretic peptide predicts development of diabetes: the prospective Malmo Diet and Cancer study.40
238676232013Atrial natriuretic peptide is negatively regulated by microRNA-425.40
217984272011A genetic variant of the atrial natriuretic peptide gene is associated with cardiometabolic protection in the general community.39

Citation

Dessen P

NPPA (natriuretic peptide A)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/41567/nppa