NPPA (natriuretic peptide A)

Gene Gene information from NCBI Gene database.
Gene SNPs Transcription factors Other IDs Associated diseases
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
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (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
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (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.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
108780 7939 ENSG00000175206
Protein Protein information from UniProt database.
Gene SNPs Transcription factors Other IDs Associated diseases
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
APRSLRRSSCFGGRMDRIGAQSGLGCNSFRY
Sequence length 151
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
155
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Atrial fibrillation, familial, 6 Pathogenic rs587776851 RCV000019366
Show/Hide Unknown Diseases (8)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Atrial standstill 2 Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance rs765926210, rs202102042, rs61757261, rs749353276, rs150794709, rs772104828, rs143419574 RCV002488217
RCV000114740
RCV002498490
RCV000764958
RCV002483456
RCV002484193
RCV002484169
Cardiac arrhythmia Benign rs5064 RCV001841539
Lung cancer Likely benign rs765876096 RCV005934853
Malignant lymphoma, large B-cell, diffuse Benign rs5064 RCV005888791
Show/Hide Text Mining Associations (82)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 9525543
Acrocephalosyndactylia Associate 22575314
Alzheimer Disease Associate 25902149
Amyloid Neuropathies Familial Associate 16721833
Amyloidosis Associate 16721833, 9525543
Aneurysm Associate 2521342
Angina Stable Associate 22575314
Arrhythmias Cardiac Associate 26762269
Atherosclerosis Associate 26720342
Atrial Fibrillation Associate 19646991, 20543198, 26267381, 27567174, 35393944