{ "uniprot_canonical_ac": "P01160-1", "uniprot_ac": "P01160", "uniprot_id": "ANF_HUMAN", "mass": { "chemical_mass": 16396.0, "monoisotopic_mass": 16396.0 }, "refseq": { "ac": "NP_006163", "name": "natriuretic peptides A preproprotein", "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 peptide), which is processed to release a peptide from the N-terminus with similarity to vasoactive peptide, cardiodilatin, and another peptide from the C-terminus with natriuretic-diuretic activity. Mutations in this gene have been associated with atrial fibrillation familial type 6. This gene is located adjacent to another member of the natriuretic family of peptides on chromosome 1. [provided by RefSeq, Oct 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006163" }, "gene_names": [ { "name": "NPPA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P01160", "id": "P01160" }, { "name": "ANF; ANP; ATFB6; ATRST2; CDD; CDD-ANF; CDP; PND", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006163", "id": "NP_006163" }, { "name": "ANP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P01160", "id": "P01160" }, { "name": "NPPA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006163", "id": "NP_006163" }, { "name": "PND", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P01160", "id": "P01160" } ], "protein_names": [ { "name": "Natriuretic peptides A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P01160" }, { "name": "ANF 1-33", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "ANF 3-33", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "ANF 8-33", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "ANF", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "Alpha-atrial natriuretic peptide", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "Alpha-hANP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "Atrial natriuretic factor 1-33", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "Atrial natriuretic factor 3-33", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "Atrial natriuretic factor 8-33", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "Atrial natriuretic factor prohormone", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "Atrial natriuretic factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "Atrial natriuretic peptide prohormone", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "Atriopeptigen", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "Atriopeptin III", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "Atriopeptin II", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "Atriopeptin I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "CDD 95-126", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "CDD-ANF", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "CDD-ANP (95-126)", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "CDD-ANP (99-126)", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "CDD", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "Cardiodilatin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "Cardionatrin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "LANH", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "Long-acting natriuretic hormone", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "Pro atrial natriuretic factor 1-30", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "Pro atrial natriuretic factor 31-67", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "Pro atrial natriuretic factor 79-98", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "Pro atrial natriuretic factor 99-126", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "Pro atrial natriuretic peptide 1-30", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "Pro atrial natriuretic peptide 31-67", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "Pro atrial natriuretic peptide 79-98", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "Pro atrial natriuretic peptide 95-126", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "cardiodilatin-related peptide; cardionatrin; atriopeptin; prepronatriodilatin; proANF; proANP; preproANP; atriopeptigen; preproCDD-ANF; atrial natriuretic factor prohormone; atrial natriuretic peptide prohormone; natriuretic peptide precursor A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006163", "id": "NP_006163" }, { "name": "natriuretic peptides A preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006163", "id": "NP_006163" }, { "name": "preproANP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "preproCDD-ANF", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "proANF 1-30", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "proANF 31-67", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "proANF 79-98", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "proANF 99-126", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "proANF", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "proANP 1-30", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "proANP 31-67", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "proANP 79-98", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "proANP 95-126", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" }, { "name": "proANP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01160" } ], "function": [ { "annotation": "Atrial natriuretic peptide stimulates autophagy/mitophagy and improves mitochondrial function in chronic heart failure. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006163", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006163" }, { "database": "PubMed", "id": "37099206", "url": "https://glygen.org/publication/PubMed/37099206" } ] }, { "annotation": "Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis.", "evidence": [ { "database": "RefSeq", "id": "NP_006163", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006163" }, { "database": "PubMed", "id": "37913506", "url": "https://glygen.org/publication/PubMed/37913506" } ] }, { "annotation": "Hormone produced in the kidneys that appears to be important for maintaining cardio-renal homeostasis (PubMed:8351194, PubMed:8853410, PubMed:8779891). Mediates vasodilation, natriuresis and diuresis primarily in the renal system, in order to maintain the extracellular fluid volume and control the fluid-electrolyte balance (PubMed:2528951, PubMed:8351194, PubMed:8853410, PubMed:8779891). Specifically binds and stimulates cGMP production by renal transmembrane receptors, likely NPR1 (PubMed:8384600, PubMed:9893117). Urodilatin not ANP, may be the natriuretic peptide responsible for the regulation of sodium and water homeostasis in the kidney (PubMed:8779891, PubMed:8384600).", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160#function" }, { "database": "PubMed", "id": "2528951", "url": "https://glygen.org/publication/PubMed/2528951" }, { "database": "PubMed", "id": "8351194", "url": "https://glygen.org/publication/PubMed/8351194" }, { "database": "PubMed", "id": "8779891", "url": "https://glygen.org/publication/PubMed/8779891" }, { "database": "PubMed", "id": "9893117", "url": "https://glygen.org/publication/PubMed/9893117" }, { "database": "PubMed", "id": "8853410", "url": "https://glygen.org/publication/PubMed/8853410" }, { "database": "PubMed", "id": "8384600", "url": "https://glygen.org/publication/PubMed/8384600" } ] }, { "annotation": "Hormone that plays a key role in mediating cardio-renal homeostasis, and is involved in vascular remodeling and regulating energy metabolism (PubMed:8653797, PubMed:7595132, PubMed:2825692, PubMed:7720651, PubMed:8087923, PubMed:2532366, PubMed:22307324, PubMed:18835931, PubMed:21672517, PubMed:15741263, PubMed:16875975). Acts by specifically binding and stimulating NPR1 to produce cGMP, which in turn activates effector proteins, such as PRKG1, that drive various biological responses (PubMed:25401746, PubMed:9893117, PubMed:1672777, PubMed:1660465, PubMed:2162527, PubMed:2825692, PubMed:7720651, PubMed:22307324, PubMed:8384600, PubMed:21098034). Regulates vasodilation, natriuresis, diuresis and aldosterone synthesis and is therefore essential for regulating blood pressure, controlling the extracellular fluid volume and maintaining the fluid-electrolyte balance (PubMed:8653797, PubMed:7595132, PubMed:2825692, PubMed:7720651, PubMed:2532366, PubMed:8087923). Also involved in inhibiting cardiac remodeling and cardiac hypertrophy by inducing cardiomyocyte apoptosis and attenuating the growth of cardiomyocytes and fibroblasts (PubMed:16875975). Plays a role in female pregnancy by promoting trophoblast invasion and spiral artery remodeling in uterus, and thus prevents pregnancy-induced hypertension (By similarity). In adipose tissue, acts in various cGMP- and PKG-dependent pathways to regulate lipid metabolism and energy homeostasis (PubMed:22307324, PubMed:18835931, PubMed:21672517, PubMed:15741263). This includes up-regulating lipid metabolism and mitochondrial oxygen utilization by activating the AMP-activated protein kinase (AMPK), and increasing energy expenditure by acting via MAPK11 to promote the UCP1-dependent thermogenesis of brown adipose tissue (PubMed:22307324, PubMed:18835931, PubMed:21672517, PubMed:15741263). Binds the clearance receptor NPR3 which removes the hormone from circulation (PubMed:1672777).", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160#function" }, { "database": "PubMed", "id": "1672777", "url": "https://glygen.org/publication/PubMed/1672777" }, { "database": "PubMed", "id": "21098034", "url": "https://glygen.org/publication/PubMed/21098034" }, { "database": "PubMed", "id": "2532366", "url": "https://glygen.org/publication/PubMed/2532366" }, { "database": "PubMed", "id": "15741263", "url": "https://glygen.org/publication/PubMed/15741263" }, { "database": "PubMed", "id": "18835931", "url": "https://glygen.org/publication/PubMed/18835931" }, { "database": "PubMed", "id": "9893117", "url": "https://glygen.org/publication/PubMed/9893117" }, { "database": "PubMed", "id": "8653797", "url": "https://glygen.org/publication/PubMed/8653797" }, { "database": "PubMed", "id": "8087923", "url": "https://glygen.org/publication/PubMed/8087923" }, { "database": "PubMed", "id": "7595132", "url": "https://glygen.org/publication/PubMed/7595132" }, { "database": "PubMed", "id": "21672517", "url": "https://glygen.org/publication/PubMed/21672517" }, { "database": "PubMed", "id": "2162527", "url": "https://glygen.org/publication/PubMed/2162527" }, { "database": "PubMed", "id": "1660465", "url": "https://glygen.org/publication/PubMed/1660465" }, { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprot/P05125#function" }, { "database": "PubMed", "id": "25401746", "url": "https://glygen.org/publication/PubMed/25401746" }, { "database": "PubMed", "id": "16875975", "url": "https://glygen.org/publication/PubMed/16875975" }, { "database": "PubMed", "id": "8384600", "url": "https://glygen.org/publication/PubMed/8384600" }, { "database": "PubMed", "id": "7720651", "url": "https://glygen.org/publication/PubMed/7720651" }, { "database": "PubMed", "id": "22307324", "url": "https://glygen.org/publication/PubMed/22307324" }, { "database": "PubMed", "id": "2825692", "url": "https://glygen.org/publication/PubMed/2825692" } ] }, { "annotation": "May have a role in cardio-renal homeostasis through regulation of diuresis and inhibiting aldosterone synthesis (PubMed:8087923, PubMed:2825692, PubMed:7595132). In vitro, promotes the production of cGMP and induces vasodilation (PubMed:2825692). May promote natriuresis, at least in part, by enhancing prostaglandin E2 synthesis resulting in the inhibition of renal Na+-K+-ATPase (PubMed:7720651, PubMed:7595132). May have a role in potassium excretion but not sodium excretion (natriuresis) (PubMed:8087923). Possibly enhances protein excretion in urine by decreasing proximal tubular protein reabsorption (PubMed:11145122).", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160#function" }, { "database": "PubMed", "id": "8087923", "url": "https://glygen.org/publication/PubMed/8087923" }, { "database": "PubMed", "id": "7595132", "url": "https://glygen.org/publication/PubMed/7595132" }, { "database": "PubMed", "id": "11145122", "url": "https://glygen.org/publication/PubMed/11145122" }, { "database": "PubMed", "id": "7720651", "url": "https://glygen.org/publication/PubMed/7720651" }, { "database": "PubMed", "id": "2825692", "url": "https://glygen.org/publication/PubMed/2825692" } ] }, { "annotation": "May have a role in cardio-renal homeostasis through regulation of natriuresis and vasodilation. In vivo promotes natriuresis and in vitro, vasodilates renal artery strips.", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160#function" }, { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprot/P01161#function" }, { "database": "UniProtKB", "id": "B0ZBE8", "url": "https://www.uniprot.org/uniprot/B0ZBE8#function" }, { "database": "UniProtKB", "id": "ARBA00002948", "url": "https://www.uniprot.org/uniprot/ARBA00002948#function" }, { "database": "UniProtKB", "id": "ARBA00002352", "url": "https://www.uniprot.org/uniprot/ARBA00002352#function" }, { "database": "UniProtKB", "id": "ARBA00003360", "url": "https://www.uniprot.org/uniprot/ARBA00003360#function" } ] }, { "annotation": "May have a role in cardio-renal homeostasis through regulation of natriuresis, diuresis, and vasodilation (PubMed:8653797, PubMed:7955907, PubMed:8087923, PubMed:2532366, PubMed:7595132). In vitro, promotes the production of cGMP and induces vasodilation (PubMed:2825692). May promote natriuresis, at least in part, by enhancing prostaglandin E2 synthesis resulting in the inhibition of renal Na+-K+-ATPase (PubMed:7720651, PubMed:7595132). However reports on the involvement of this peptide in mammal blood volume and blood pressure homeostasis are conflicting; according to a report it is not sufficient to activate cGMP and does not inhibit collecting duct transport nor effect diuresis and natriuresis (PubMed:7831500). Appears to bind to specific receptors that are distinct from the receptors bound by the atrial natriuretic and long-acting natriuretic peptides (PubMed:2162527, PubMed:2825692). Possibly functions in protein excretion in urine by maintaining the integrity of the proximal tubules and enhancing protein excretion by decreasing proximal tubular protein reabsorption (PubMed:11145122).", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160#function" }, { "database": "PubMed", "id": "2532366", "url": "https://glygen.org/publication/PubMed/2532366" }, { "database": "PubMed", "id": "7955907", "url": "https://glygen.org/publication/PubMed/7955907" }, { "database": "PubMed", "id": "8653797", "url": "https://glygen.org/publication/PubMed/8653797" }, { "database": "PubMed", "id": "8087923", "url": "https://glygen.org/publication/PubMed/8087923" }, { "database": "PubMed", "id": "7595132", "url": "https://glygen.org/publication/PubMed/7595132" }, { "database": "PubMed", "id": "2162527", "url": "https://glygen.org/publication/PubMed/2162527" }, { "database": "PubMed", "id": "11145122", "url": "https://glygen.org/publication/PubMed/11145122" }, { "database": "PubMed", "id": "7831500", "url": "https://glygen.org/publication/PubMed/7831500" }, { "database": "PubMed", "id": "7720651", "url": "https://glygen.org/publication/PubMed/7720651" }, { "database": "PubMed", "id": "2825692", "url": "https://glygen.org/publication/PubMed/2825692" } ] }, { "annotation": "May have a role in cardio-renal homeostasis through regulation of natriuresis, diuresis, vasodilation, and inhibiting aldosterone synthesis (PubMed:8653797, PubMed:7955907, PubMed:8087923, PubMed:2825692, PubMed:7595132, PubMed:2532366). In vitro, promotes the production of cGMP and induces vasodilation (PubMed:2825692). May promote natriuresis, at least in part, by enhancing prostaglandin E2 synthesis resulting in the inhibition of renal Na+-K+-ATPase (PubMed:7720651). However reports on the involvement of this peptide in mammal blood volume and blood pressure homeostasis are conflicting; according to a report, in vivo it is not sufficient to activate cGMP and does not inhibit collecting duct transport nor effect diuresis and natriuresis (By similarity). Appears to bind to specific receptors that are distinct from the receptors bound by atrial natriuretic peptide and vessel dilator (PubMed:2162527, PubMed:2825692). Possibly enhances protein excretion in urine by decreasing proximal tubular protein reabsorption (PubMed:11145122).", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160#function" }, { "database": "PubMed", "id": "2532366", "url": "https://glygen.org/publication/PubMed/2532366" }, { "database": "PubMed", "id": "7955907", "url": "https://glygen.org/publication/PubMed/7955907" }, { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprot/P01161#function" }, { "database": "PubMed", "id": "8653797", "url": "https://glygen.org/publication/PubMed/8653797" }, { "database": "PubMed", "id": "8087923", "url": "https://glygen.org/publication/PubMed/8087923" }, { "database": "PubMed", "id": "7595132", "url": "https://glygen.org/publication/PubMed/7595132" }, { "database": "PubMed", "id": "2162527", "url": "https://glygen.org/publication/PubMed/2162527" }, { "database": "PubMed", "id": "11145122", "url": "https://glygen.org/publication/PubMed/11145122" }, { "database": "PubMed", "id": "7720651", "url": "https://glygen.org/publication/PubMed/7720651" }, { "database": "PubMed", "id": "2825692", "url": "https://glygen.org/publication/PubMed/2825692" } ] }, { "annotation": "May have a role in cardio-renal homeostasis through regulation of regulation of natriuresis and vasodilation. In vivo promotes natriuresis. In vitro, vasodilates intestinal smooth muscle but not smooth muscle strips.", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160#function" }, { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprot/P01161#function" }, { "database": "UniProtKB", "id": "B0ZBE8", "url": "https://www.uniprot.org/uniprot/B0ZBE8#function" }, { "database": "UniProtKB", "id": "ARBA00003244", "url": "https://www.uniprot.org/uniprot/ARBA00003244#function" } ] }, { "annotation": "Regulatory role of atrial natriuretic peptide in brown adipose tissue: A narrative review. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_006163", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006163" }, { "database": "PubMed", "id": "36336901", "url": "https://glygen.org/publication/PubMed/36336901" } ] }, { "annotation": "Sex-based differences in metabolic protection by the ANP genetic variant rs5068 in the general population.", "evidence": [ { "database": "RefSeq", "id": "NP_006163", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006163" }, { "database": "PubMed", "id": "37417873", "url": "https://glygen.org/publication/PubMed/37417873" } ] }, { "annotation": "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 peptide), which is processed to release a peptide from the N-terminus with similarity to vasoactive peptide, cardiodilatin, and another peptide from the C-terminus with natriuretic-diuretic activity. Mutations in this gene have been associated with atrial fibrillation familial type 6. This gene is located adjacent to another member of the natriuretic family of peptides on chromosome 1. [provided by RefSeq, Oct 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_006163", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006163" } ] } ], "disease": [ { "disease_id": "DOID:0050650", "recommended_name": { "id": "DOID:0050650", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050650", "name": "familial atrial fibrillation", "description": "An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes." }, "synonyms": [ { "id": "DOID:0050650", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050650", "name": "ATFB", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "atrial fibrillation, familial, 11", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene." }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "GJA5 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "atrial fibrillation, familial, 11", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "atrial fibrillation, familial, type 11", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "familial atrial fibrillation caused by mutation in GJA5", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "ATFB11", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "atrial fibrillation, familial, 10", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene." }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "SCN5A familial atrial fibrillation", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "atrial fibrillation, familial, 10", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "atrial fibrillation, familial, type 10", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "familial atrial fibrillation caused by mutation in SCN5A", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "ATFB10", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "atrial fibrillation, familial, 13", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN1B gene." }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "SCN1B familial atrial fibrillation", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "atrial fibrillation, familial, 13", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "atrial fibrillation, familial, type 13", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "familial atrial fibrillation caused by mutation in SCN1B", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "ATFB13", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "atrial fibrillation, familial, 14", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene." }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "SCN2B familial atrial fibrillation", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "atrial fibrillation, familial, 14", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "atrial fibrillation, familial, type 14", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "familial atrial fibrillation caused by mutation in SCN2B", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "ATFB14", "description": "" }, { "id": "MONDO:0012066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012066", "name": "atrial fibrillation, familial, 1", "description": "" }, { "id": "MONDO:0012066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012066", "name": "atrial fibrillation, autosomal dominant", "description": "" }, { "id": "MONDO:0012066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012066", "name": "ATFB1", "description": "" }, { "id": "MONDO:0012066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012066", "name": "atrial fibrillation, familial, 1", "description": "" }, { "id": "MONDO:0012167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012167", "name": "atrial fibrillation, familial, 2", "description": "" }, { "id": "MONDO:0012167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012167", "name": "ATFB2", "description": "" }, { "id": "MONDO:0012167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012167", "name": "atrial fibrillation, familial, 2", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "atrial fibrillation, familial, 3", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene." }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "KCNQ1 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "atrial fibrillation, familial, 3", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "atrial fibrillation, familial, type 3", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "familial atrial fibrillation caused by mutation in KCNQ1", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "ATFB3", "description": "" }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "atrial fibrillation, familial, 12", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the ABCC9 gene." }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "ABCC9 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "atrial fibrillation, familial, 12", "description": "" }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "atrial fibrillation, familial, type 12", "description": "" }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "familial atrial fibrillation caused by mutation in ABCC9", "description": "" }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "ATFB12", "description": "" }, { "id": "MONDO:0013100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013100", "name": "atrial fibrillation, familial, 8", "description": "" }, { "id": "MONDO:0013100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013100", "name": "ATFB8", "description": "" }, { "id": "MONDO:0013100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013100", "name": "atrial fibrillation, familial, 8", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "atrial fibrillation, familial, 4", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene." }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "KCNE2 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "atrial fibrillation, familial, 4", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "atrial fibrillation, familial, type 4", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "familial atrial fibrillation caused by mutation in KCNE2", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "ATFB4", "description": "" }, { "id": "MONDO:0012678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012678", "name": "atrial fibrillation, familial, 5", "description": "" }, { "id": "MONDO:0012678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012678", "name": "ATFB5", "description": "" }, { "id": "MONDO:0012678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012678", "name": "atrial fibrillation, familial, 5", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "atrial fibrillation, familial, 15", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene." }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "NUP155 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "atrial fibrillation 15", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "atrial fibrillation, familial, 15", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "atrial fibrillation, familial, type 15", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "familial atrial fibrillation caused by mutation in NUP155", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "ATFB15", "description": "" }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "atrial fibrillation, familial, 6", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the NPPA gene." }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "NPPA familial atrial fibrillation", "description": "" }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "atrial fibrillation, familial, 6", "description": "" }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "atrial fibrillation, familial, type 6", "description": "" }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "familial atrial fibrillation caused by mutation in NPPA", "description": "" }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "ATFB6", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "atrial fibrillation, familial, 7", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene." }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "KCNA5 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "atrial fibrillation, familial, 7", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "atrial fibrillation, familial, type 7", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "familial atrial fibrillation caused by mutation in KCNA5", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "ATFB7", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "atrial fibrillation, familial, 9", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNJ2 gene." }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "KCNJ2 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "atrial fibrillation, familial, 9", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "atrial fibrillation, familial, type 9", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "familial atrial fibrillation caused by mutation in KCNJ2", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "ATFB9", "description": "" }, { "id": "MIM:614049", "resource": "MIM", "url": "https://www.omim.org/entry/614049", "name": "Atrial fibrillation, familial, 11", "description": "Atrial fibrillation, familial, 11" }, { "id": "MIM:614022", "resource": "MIM", "url": "https://www.omim.org/entry/614022", "name": "Atrial fibrillation, familial, 10", "description": "Atrial fibrillation, familial, 10" }, { "id": "MIM:615377", "resource": "MIM", "url": "https://www.omim.org/entry/615377", "name": "Atrial fibrillation, familial, 13", "description": "Atrial fibrillation, familial, 13" }, { "id": "MIM:615378", "resource": "MIM", "url": "https://www.omim.org/entry/615378", "name": "Atrial fibrillation, familial, 14", "description": "Atrial fibrillation, familial, 14" }, { "id": "MIM:607554", "resource": "MIM", "url": "https://www.omim.org/entry/607554", "name": "Atrial fibrillation, familial, 3", "description": "Atrial fibrillation, familial, 3" }, { "id": "MIM:614050", "resource": "MIM", "url": "https://www.omim.org/entry/614050", "name": "Atrial fibrillation, familial, 12", "description": "Atrial fibrillation, familial, 12" }, { "id": "MIM:611493", "resource": "MIM", "url": "https://www.omim.org/entry/611493", "name": "Atrial fibrillation, familial, 4", "description": "Atrial fibrillation, familial, 4" }, { "id": "MIM:615770", "resource": "MIM", "url": "https://www.omim.org/entry/615770", "name": "Atrial fibrillation, familial, 15", "description": "Atrial fibrillation, familial, 15" }, { "id": "MIM:612201", "resource": "MIM", "url": "https://www.omim.org/entry/612201", "name": "Atrial fibrillation, familial, 6", "description": "Atrial fibrillation, familial, 6" }, { "id": "MIM:612240", "resource": "MIM", "url": "https://www.omim.org/entry/612240", "name": "Atrial fibrillation, familial, 7", "description": "Atrial fibrillation, familial, 7" }, { "id": "MIM:613980", "resource": "MIM", "url": "https://www.omim.org/entry/613980", "name": "Atrial fibrillation, familial, 9", "description": "Atrial fibrillation, familial, 9" } ], "evidence": [ { "id": "612201", "database": "MIM", "url": "https://www.omim.org/entry/612201" } ] }, { "disease_id": "DOID:0080663", "recommended_name": { "id": "DOID:0080663", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080663", "name": "atrial standstill 2", "description": "A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and has_material_basis_in homozygous mutation in the NPPA gene on chromosome 1p36." }, "synonyms": [ { "id": "MONDO:0014329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014329", "name": "atrial standstill 2", "description": "Any atrial standstill in which the cause of the disease is a mutation in the NPPA gene." }, { "id": "MONDO:0014329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014329", "name": "NPPA atrial standstill", "description": "" }, { "id": "MONDO:0014329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014329", "name": "atrial standstill 2", "description": "" }, { "id": "MONDO:0014329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014329", "name": "atrial standstill caused by mutation in NPPA", "description": "" }, { "id": "MONDO:0014329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014329", "name": "atrial standstill type 2", "description": "" }, { "id": "MONDO:0014329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014329", "name": "ATRST2", "description": "" }, { "id": "MONDO:0014329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014329", "name": "atrial dilation and standstill", "description": "" }, { "id": "MONDO:0014329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014329", "name": "cardiomyopathy, atrial dilated, with atrial standstill", "description": "" }, { "id": "MIM:615745", "resource": "MIM", "url": "https://www.omim.org/entry/615745", "name": "Atrial standstill 2", "description": "Atrial standstill 2" } ], "evidence": [ { "id": "615745", "database": "MIM", "url": "https://www.omim.org/entry/615745" } ] } ], "snv": [ { "evidence": [ { "id": "P01160", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01160" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 103, "end_pos": 103, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "1", "chr_pos": "11847256", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D103", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1278794912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1278794912" }, { "id": "rs1278794912", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1278794912#frequency_tab" }, { "id": "rs1278794912", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1278794912" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 75, "end_pos": 75, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->I).", "chr_id": "1", "chr_pos": "11847339", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S75", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1278794912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1278794912" }, { "id": "rs1278794912", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1278794912#frequency_tab" }, { "id": "rs1278794912", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1278794912" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 75, "end_pos": 75, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->N).", "chr_id": "1", "chr_pos": "11847339", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S75", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 123, "end_pos": 123, "sequence_org": "R", "sequence_mut": "G", "comment": "Loss of cleavage by CORIN.", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" }, { "database": "PubMed", "id": "10880574", "url": "https://glygen.org/publication/PubMed/10880574" } ] }, { "start_pos": 124, "end_pos": 126, "sequence_org": "SLR", "sequence_mut": "", "comment": "Reduced degradation of atrial natriuretic peptide by IDE; when associated with N-147--151-YDEL.", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" }, { "database": "PubMed", "id": "21098034", "url": "https://glygen.org/publication/PubMed/21098034" } ] }, { "start_pos": 124, "end_pos": 129, "sequence_org": "SLRRSS", "sequence_mut": "", "comment": "No effect on degradation of atrial natriuretic peptide by IDE.", "evidence": [ { "database": "UniProtKB", "id": 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{ "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P01160", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01160" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": 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Kanabrocki E L, Hermida R C, Bremner F W, Third J L, Boles M A, Nemchausky B M, Olwin J H, Scheving L E", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "reference": [ { "type": "PubMed", "id": "8653797", "url": "https://glygen.org/publication/PubMed/8653797" } ] }, { "title": "Postprandial natriuresis in humans: further evidence that urodilatin, not ANP, modulates sodium excretion.", "journal": "The American journal of physiology", "date": "1996-02", "authors": "Drummer C, Franck W, Heer M, Forssmann W G, Gerzer R, Goetz K", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "reference": [ { "type": "PubMed", "id": "8779891", "url": "https://glygen.org/publication/PubMed/8779891" } ] }, { "title": "Urodilatin is involved in sodium homeostasis and exerts sodium-state-dependent natriuretic and diuretic effects.", "journal": "The American journal of physiology", "date": "1996-09", "authors": "Meyer M, Richter R, Brunkhorst R, Wrenger E, Schulz-Knappe P, Kist A, Mentz P, Brabant E G, Koch K M, Rechkemmer G, Forssmann W G", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "reference": [ { "type": "PubMed", "id": "8853410", "url": "https://glygen.org/publication/PubMed/8853410" } ] }, { "title": "Localized amyloidosis of the seminal vesicle: identification of lactoferrin immunoreactivity in the amyloid material.", "journal": "Pathology international", "date": "1996", "authors": "Tsutsumi Y, Serizawa A, Hori S", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "8870004", "url": "https://glygen.org/publication/PubMed/8870004" } ] }, { "title": "Prolactin-derived amyloid in the aging pituitary gland.", "journal": "The American journal of pathology", "date": "1997", "authors": "Westermark P, Eriksson L, Engstrom U, Enestrom S, Sletten K", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "9006323", "url": "https://glygen.org/publication/PubMed/9006323" } ] }, { "title": "Kerato-epithelin mutations in four 5q31-linked corneal dystrophies.", "journal": "Nature genetics", "date": "1997", "authors": "Munier FL, Korvatska E, Djemai A, Le Paslier D, Zografos L, Pescia G, Schorderet DF", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "9054935", "url": "https://glygen.org/publication/PubMed/9054935" } ] }, { "title": "The cardiac tissue-restricted homeobox protein Csx/Nkx2.5 physically associates with the zinc finger protein GATA4 and cooperatively activates atrial natriuretic factor gene expression.", "journal": "Molecular and cellular biology", "date": "1998", "authors": "Lee Y, Shioi T, Kasahara H, Jobe SM, Wiese RJ, Markham BE, Izumo S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2032785", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2032785" } ], "reference": [ { "type": "PubMed", "id": "9584153", "url": "https://glygen.org/publication/PubMed/9584153" } ] }, { "title": "Congenital heart disease caused by mutations in the transcription factor NKX2-5.", "journal": "Science (New York, N.Y.)", "date": "1998", "authors": "Schott JJ, Benson DW, Basson CT, Pease W, Silberbach GM, Moak JP, Maron BJ, Seidman CE, Seidman JG", "evidence": [ { "database": "Reactome", "id": "R-HSA-2032785", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2032785" } ], "reference": [ { "type": "PubMed", "id": "9651244", "url": "https://glygen.org/publication/PubMed/9651244" } ] }, { "title": "The renal natriuretic peptide urodilatin is present in human kidney.", "journal": "Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association", "date": "1998", "authors": "Herten M, Lenz W, Gerzer R, Drummer C", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "reference": [ { "type": "PubMed", "id": "9794555", "url": "https://glygen.org/publication/PubMed/9794555" } ] }, { "title": "Effects of the mutations Ala30 to Pro and Ala53 to Thr on the physical and morphological properties of alpha-synuclein protein implicated in Parkinson's disease.", "journal": "FEBS letters", "date": "1998", "authors": "El-Agnaf OM, Jakes R, Curran MD, Wallace A", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "9862427", "url": "https://glygen.org/publication/PubMed/9862427" } ] }, { "title": "Regulation of natriuretic peptide (urodilatin) release in a human kidney cell line.", "journal": "Kidney international", "date": "1999-01", "authors": "Lenz W, Herten M, Gerzer R, Drummer C", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "reference": [ { "type": "PubMed", "id": "9893117", "url": "https://glygen.org/publication/PubMed/9893117" } ] } ], "pathway": [ { "id": "hsa:4878", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4878", "resource": "KEGG Pathway" }, { "id": "R-HSA-2032785", "name": "YAP1- and WWTR1 (TAZ)-stimulated gene expression", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2032785", "resource": "Reactome", "description": "YAP1- and WWTR1 (TAZ)-stimulated gene expression" }, { "id": "R-HSA-5578768", "name": "Physiological factors", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578768", "resource": "Reactome", "description": "Physiological factors" }, { "id": "R-HSA-977225", "name": "Amyloid fiber formation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225", "resource": "Reactome", "description": "Amyloid fiber formation" } ], "orthologs": [ { "uniprot_canonical_ac": "P01161-1", "protein_name": "Natriuretic peptides A", "gene_name": "Nppa", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGSFSITKGFFLFLAFWLPGHIGANPVYSAVSNTDLMDFKNLLDHLEEKMPVEDEVMPPQALSEQTDEAGAALSSLSEVPPWTGEVNPSQRDGGALGRGPWDPSDRSALLKSKLRALLAGPRSLRRSSCFGGRIDRIGAQSGLGCNSFRYRR", "length": 152 }, "evidence": [ { "id": "45918626", "url": "http://www.informatics.jax.org/homology/45918626", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P05125-1", "protein_name": "Natriuretic peptides A", "gene_name": "Nppa", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGSFSITLGFFLVLAFWLPGHIGANPVYSAVSNTDLMDFKNLLDHLEEKMPVEDEVMPPQALSEQTEEAGAALSSLPEVPPWTGEVNPPLRDGSALGRSPWDPSDRSALLKSKLRALLAGPRSLRRSSCFGGRIDRIGAQSGLGCNSFRYRR", "length": 152 }, "evidence": [ { "id": "45918626", "url": "http://www.informatics.jax.org/homology/45918626", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": 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"id": "GO:0097746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097746", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" }, { "name": "cGMP biosynthetic process", "id": "GO:0006182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006182", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" }, { "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007218", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" }, { "name": "positive regulation of heart rate", "id": "GO:0010460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010460", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle contraction", "id": "GO:0060452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060452", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" }, { "name": "negative regulation of systemic arterial blood pressure", "id": "GO:0003085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003085", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" }, { "name": "receptor guanylyl cyclase signaling pathway", "id": "GO:0007168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007168", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" }, { "name": "cardiac muscle hypertrophy in response to stress", "id": "GO:0014898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014898", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" }, { "name": "response to muscle stretch", "id": "GO:0035994", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035994", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" }, { "name": "regulation of atrial cardiac muscle cell membrane repolarization", "id": "GO:0060372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060372", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" }, { "name": "regulation of high voltage-gated calcium channel activity", "id": "GO:1901841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901841", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" }, { "name": "positive regulation of delayed rectifier potassium channel activity", "id": "GO:1902261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902261", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" }, { "name": "regulation of calcium ion transmembrane transport via high voltage-gated calcium channel", "id": "GO:1902514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902514", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" }, { "name": "positive regulation of potassium ion export across plasma membrane", "id": "GO:1903766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903766", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" }, { "name": "negative regulation of JUN kinase activity", "id": "GO:0043508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043508", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" }, { "name": "cGMP-mediated signaling", "id": "GO:0019934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019934", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" }, { "name": "sodium ion export across plasma membrane", "id": "GO:0036376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036376", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" }, { "name": "cardiac conduction system development", "id": "GO:0003161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003161", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" }, { "name": "aortic valve morphogenesis", "id": "GO:0003180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003180", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" }, { "name": "neuropeptide hormone activity", "id": "GO:0005184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005184", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" }, { "name": "hormone receptor binding", "id": "GO:0051427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051427", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" }, { "name": "neuropeptide receptor binding", "id": "GO:0071855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071855", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "natriuretic peptides A O-glycosylated 1 (human)", "definition": "A natriuretic peptides A (human) that has been O-glycosylated at the residue equivalent to Ser-75 of the amino acid sequence represented by UniProtKB:P01160-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P01160-1, Ser-75, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000051639", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051639" } ] } ], "site_annotation": [], "ptm_annotation": [ { "annotation": "Cleavage by MME initiates degradation of the factor and thereby regulates its activity (PubMed:2972276, PubMed:16254193). Degraded by IDE (in vitro) (PubMed:21098034). During IDE degradation, the resulting products can temporarily stimulate NPR2 to produce cGMP, before the fragments are completely degraded and inactivated by IDE (in vitro) (PubMed:21098034).", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" }, { "database": "PubMed", "id": "2972276", "url": "https://glygen.org/publication/PubMed/2972276" }, { "database": "PubMed", "id": "21098034", "url": "https://glygen.org/publication/PubMed/21098034" }, { "database": "PubMed", "id": "16254193", "url": "https://glygen.org/publication/PubMed/16254193" } ] }, { "annotation": "Degraded by IDE.", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" }, { "database": "PubMed", "id": "21098034", "url": "https://glygen.org/publication/PubMed/21098034" } ] }, { "annotation": "Phosphorylation on Ser-129 decreases vasorelaxant activity.", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" }, { "database": "PubMed", "id": "2528951", "url": "https://glygen.org/publication/PubMed/2528951" } ] }, { "annotation": "The precursor molecule is proteolytically cleaved by CORIN at Arg-123 to produce atrial natriuretic peptide (PubMed:10880574, PubMed:14559895, PubMed:7984506). Undergoes further proteolytic cleavage by unknown proteases to give rise to long-acting natriuretic peptide, vessel dilator and kaliuretic peptide (PubMed:2532366, PubMed:7955907, PubMed:7984506). Additional processing gives rise to the auriculin and atriopeptin peptides (By similarity). In the kidneys, alternative processing by an unknown protease results in the peptide urodilatin (PubMed:2972874, PubMed:8351194, PubMed:9794555).", "evidence": [ { "database": "UniProtKB", "id": "P01160", "url": "https://www.uniprot.org/uniprot/P01160" }, { "database": "PubMed", "id": "10880574", "url": "https://glygen.org/publication/PubMed/10880574" }, { "database": "PubMed", "id": "2532366", "url": "https://glygen.org/publication/PubMed/2532366" }, { "database": "PubMed", "id": "2972874", "url": "https://glygen.org/publication/PubMed/2972874" }, { "database": "PubMed", "id": "9794555", "url": "https://glygen.org/publication/PubMed/9794555" }, { "database": "PubMed", "id": "7955907", "url": "https://glygen.org/publication/PubMed/7955907" }, { "database": "PubMed", "id": "7984506", "url": "https://glygen.org/publication/PubMed/7984506" }, { "database": "PubMed", "id": "14559895", "url": "https://glygen.org/publication/PubMed/14559895" }, { "database": "PubMed", "id": "8351194", "url": 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