Gene Gene information from NCBI Gene database.
Entrez ID 4878
Gene name Natriuretic peptide A
Gene symbol NPPA
Synonyms (NCBI Gene)
ANFANPATFB6ATRST2CDDCDD-ANFCDPPND
Chromosome 1
Chromosome location 1p36.22
Summary The protein encoded by this gene belongs to the natriuretic peptide family. Natriuretic peptides are implicated in the control of extracellular fluid volume and electrolyte homeostasis. This protein is synthesized as a large precursor (containing a signal
Transcription factors Transcription factors information provided by TRRUST V2 database.
8
Transcription factor Regulation Reference
ANKRD1 Repression 18273862
FOS Unknown 1530876
GATA4 Activation 14573514
HAND2 Activation 12392994
JARID2 Unknown 18805276
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
75
GO ID Ontology Definition Evidence Reference
GO:0001666 Process Response to hypoxia IEA
GO:0003008 Process System process IEA
GO:0003085 Process Negative regulation of systemic arterial blood pressure IBA
GO:0003085 Process Negative regulation of systemic arterial blood pressure IEA
GO:0003161 Process Cardiac conduction system development NAS 26786210
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
108780 7939 ENSG00000175206
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P01160
Protein name Natriuretic peptides A (Atrial natriuretic factor prohormone) (proANF) (Atrial natriuretic peptide prohormone) (preproANP) (proANP) (Atriopeptigen) (Cardiodilatin) (CDD) (preproCDD-ANF) [Cleaved into: Long-acting natriuretic peptide (LANP) (Long-acting na
Protein function [Atrial natriuretic peptide]: Hormone that plays a key role in mediating cardio-renal homeostasis, and is involved in vascular remodeling and regulating energy metabolism (PubMed:15741263, PubMed:16875975, PubMed:18835931, PubMed:21672517, PubMe
PDB 1ANP , 1YK0 , 3N57 , 7BRH , 7BRJ , 7BRK , 8TG9 , 9BCQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00212 ANP 116 146 Atrial natriuretic peptide Family
Tissue specificity TISSUE SPECIFICITY: [Urodilatin]: Detected in the kidney distal tubular cells (at protein level) (PubMed:8384600, PubMed:9794555). Present in urine (at protein level) (PubMed:2972874, PubMed:8351194, PubMed:8779891, PubMed:9794555). {ECO:0000269|PubMed:29
Sequence
MSSFSTTTVSFLLLLAFQLLGQTRANPMYNAVSNADLMDFKNLLDHLEEKMPLEDEVVPP
QVLSEPNEEAGAALSPLPEVPPWTGEVSPAQRDGGALGRGPWDSSDRSALLKSKLRALLT
APRSLRRSSCFGGRMDRIGAQSGLGC
NSFRY
Sequence length 151
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
63
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Atrial fibrillation, familial, 6 Pathogenic rs587776851 RCV000019366
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AORTIC VALVE INSUFFICIENCY CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL 1 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 10 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 11 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 25252038, 28630469
★☆☆☆☆
Found in Text Mining only
Acute Kidney Insufficiency Acute Kidney Insufficiency CTD_human_DG 1825077, 19298916, 2948068
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 30623208
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 16297362
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma CTD_human_DG 18225537
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Basal Cell Adenocarcinoma CTD_human_DG 18225537
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Oxyphilic Adenocarcinoma CTD_human_DG 18225537
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Tubular Adenocarcinoma CTD_human_DG 18225537
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 25902149 Associate
★☆☆☆☆
Found in Text Mining only
Amyloid Neuropathies Familial Amyloid neuropathy Pubtator 16721833 Associate
★☆☆☆☆
Found in Text Mining only