NPPA (natriuretic peptide A)

Gene
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4878
Gene name Gene Name - the full gene name approved by the HGNC.
Natriuretic peptide A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NPPA
Synonyms (NCBI Gene) Gene synonyms aliases
ANF, ANP, ATFB6, ATRST2, CDD, CDD-ANF, CDP, PND
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.22
Summary Summary of gene provided in NCBI Entrez Gene.
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
Gene Transcription factors Gene ontology Other IDs Protein Pathways 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 information of associated ontologies with gene provided by GO database.
Gene Transcription factors Gene ontology Other IDs Protein Pathways 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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
108780 7939 ENSG00000175206
Protein
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  cGMP-PKG signaling pathway
cAMP signaling pathway
HIF-1 signaling pathway
Hormone signaling
Vascular smooth muscle contraction
Thermogenesis
Oxytocin signaling pathway
Regulation of lipolysis in adipocytes
Renin secretion
Aldosterone synthesis and secretion
African trypanosomiasis 		  YAP1- and WWTR1 (TAZ)-stimulated gene expression
Physiological factors
Amyloid fiber formation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Atrial Fibrillation atrial fibrillation, familial, 6 rs587776851 N/A
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial standstill atrial standstill, atrial standstill 2 N/A N/A GenCC
cardiac arrhythmia Cardiac arrhythmia N/A N/A ClinVar
Myopathy dilated cardiomyopathy N/A N/A GenCC
Psoriasis Psoriasis N/A N/A GWAS
Show/Hide Text Mining Associations (82)
Associations from Text Mining Disease 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