{ "uniprot_canonical_ac": "P01185-1", "uniprot_ac": "P01185", "uniprot_id": "NEU2_HUMAN", "mass": { "chemical_mass": 17325.0, "monoisotopic_mass": 17325.0 }, "refseq": { "ac": "NP_000481", "name": "vasopressin-neurophysin 2-copeptin preproprotein", "summary": "This gene encodes a member of the vasopressin/oxytocin family and preproprotein that is proteolytically processed to generate multiple protein products. These products include the neuropeptide hormone arginine vasopressin, and two other peptides, neurophysin 2 and copeptin. Arginine vasopressin is a posterior pituitary hormone that is synthesized in the supraoptic nucleus and paraventricular nucleus of the hypothalamus. Along with its carrier protein, neurophysin 2, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis where it is either stored or secreted into the bloodstream. The precursor is thought to be activated while it is being transported along the axon to the posterior pituitary. Arginine vasopressin acts as a growth factor by enhancing pH regulation through acid-base transport systems. It has a direct antidiuretic action on the kidney, and also causes vasoconstriction of the peripheral vessels. This hormone can contract smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. Mutations in this gene cause autosomal dominant neurohypophyseal diabetes insipidus (ADNDI). This gene is present in a gene cluster with the related gene oxytocin on chromosome 20. [provided by RefSeq, Nov 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000481" }, "gene_names": [ { "name": "AVP", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P01185", "id": "P01185" }, { "name": "ADH; ARVP; AVP-NPII; AVRP; VP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000481", "id": "NP_000481" }, { "name": "ARVP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P01185", "id": "P01185" }, { "name": "AVP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000481", "id": "NP_000481" }, { "name": "VP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P01185", "id": "P01185" } ], "protein_names": [ { "name": "Vasopressin-neurophysin 2-copeptin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P01185" }, { "name": "AVP-NPII", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01185" }, { "name": "Arginine-vasopressin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01185" }, { "name": "Neurophysin-II", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01185" }, { "name": "vasopressin-neurophysin 2-copeptin preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000481", "id": "NP_000481" }, { "name": "vasopressin-neurophysin II-copeptin; neurohypophyseal; antidiuretic hormone; vasopressin-neurophysin 2-copeptin; prepro-AVP-NP II; prepro-arginine-vasopressin-neurophysin II", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000481", "id": "NP_000481" } ], "function": [ { "annotation": "Arginine Vasopressin Plays a Role in Microvascular Dysfunction After ST-Elevation Myocardial Infarction.", "evidence": [ { "database": "RefSeq", "id": "NP_000481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000481" }, { "database": "PubMed", "id": "37681545", "url": "https://glygen.org/publication/PubMed/37681545" } ] }, { "annotation": "Copeptin analysis in endocrine disorders. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000481" }, { "database": "PubMed", "id": "37859988", "url": "https://glygen.org/publication/PubMed/37859988" } ] }, { "annotation": "Has a direct antidiuretic action on the kidney, it also causes vasoconstriction of the peripheral vessels. Acts by binding to vasopressin receptors (V1bR/AVPR1B, V1aR/AVPR1A, and V2R/AVPR2) (PubMed:18174156).", "evidence": [ { "database": "UniProtKB", "id": "P01185", "url": "https://www.uniprot.org/uniprot/P01185#function" }, { "database": "PubMed", "id": "18174156", "url": "https://glygen.org/publication/PubMed/18174156" } ] }, { "annotation": "Interplay of Angiotensin Peptides, Vasopressin, and Insulin in the Heart: Experimental and Clinical Evidence of Altered Interactions in Obesity and Diabetes Mellitus. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000481" }, { "database": "PubMed", "id": "38279313", "url": "https://glygen.org/publication/PubMed/38279313" } ] }, { "annotation": "Specifically binds vasopressin.", "evidence": [ { "database": "UniProtKB", "id": "P01185", "url": "https://www.uniprot.org/uniprot/P01185#function" } ] }, { "annotation": "Testing for Arginine Vasopressin Deficiency.", "evidence": [ { "database": "RefSeq", "id": "NP_000481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000481" }, { "database": "PubMed", "id": "37966292", "url": "https://glygen.org/publication/PubMed/37966292" } ] }, { "annotation": "The association of copeptin with metabolic risk markers is modified by region of origin. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000481" }, { "database": "PubMed", "id": "37949932", "url": "https://glygen.org/publication/PubMed/37949932" } ] }, { "annotation": "This gene encodes a member of the vasopressin/oxytocin family and preproprotein that is proteolytically processed to generate multiple protein products. These products include the neuropeptide hormone arginine vasopressin, and two other peptides, neurophysin 2 and copeptin. Arginine vasopressin is a posterior pituitary hormone that is synthesized in the supraoptic nucleus and paraventricular nucleus of the hypothalamus. Along with its carrier protein, neurophysin 2, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis where it is either stored or secreted into the bloodstream. The precursor is thought to be activated while it is being transported along the axon to the posterior pituitary. Arginine vasopressin acts as a growth factor by enhancing pH regulation through acid-base transport systems. It has a direct antidiuretic action on the kidney, and also causes vasoconstriction of the peripheral vessels. This hormone can contract smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. Mutations in this gene cause autosomal dominant neurohypophyseal diabetes insipidus (ADNDI). This gene is present in a gene cluster with the related gene oxytocin on chromosome 20. [provided by RefSeq, Nov 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_000481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000481" } ] } ], "disease": [ { "disease_id": "DOID:12388", "recommended_name": { "id": "DOID:12388", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12388", "name": "neurohypophyseal diabetes insipidus", "description": "A central diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis and that has_material_basis_in heterozygous mutation in the arginine vasopressin gene (AVP) on chromosome 20p13." }, "synonyms": [ { "id": "DOID:12388", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12388", "name": "Pituitary diabetes insipidus", "description": "" }, { "id": "DOID:12388", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12388", "name": "Vasopressin deficiency", "description": "" }, { "id": "DOID:12388", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12388", "name": "vasopressin defective diabetes insipidus", "description": "" }, { "id": "MONDO:0007450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007450", "name": "neurohypophyseal diabetes insipidus", "description": "Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis." }, { "id": "MONDO:0007450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007450", "name": "ADH deficiency", "description": "" }, { "id": "MONDO:0007450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007450", "name": "AVP deficiency", "description": "" }, { "id": "MONDO:0007450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007450", "name": "Arginine vasopressin deficiency", "description": "" }, { "id": "MONDO:0007450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007450", "name": "antidiuretic hormone deficiency", "description": "" }, { "id": "MONDO:0007450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007450", "name": "diabetes insipidus of pituitary gland", "description": "" }, { "id": "MONDO:0007450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007450", "name": "hereditary CDI", "description": "" }, { "id": "MONDO:0007450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007450", "name": "hereditary neurogenic diabetes insipidus", "description": "" }, { "id": "MONDO:0007450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007450", "name": "pituitary diabetes insipidus", "description": "" }, { "id": "MONDO:0007450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007450", "name": "pituitary gland diabetes insipidus", "description": "" }, { "id": "MONDO:0007450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007450", "name": "vasopressin defective diabetes insipidus", "description": "" }, { "id": "MONDO:0007450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007450", "name": "vasopressin deficiency", "description": "" }, { "id": "MONDO:0007450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007450", "name": "diabetes insipidus, cranial type", "description": "" }, { "id": "MONDO:0007450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007450", "name": "diabetes insipidus, neurohypophyseal", "description": "" }, { "id": "MONDO:0007450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007450", "name": "diabetes insipidus, primary central", "description": "" }, { "id": "MONDO:0007450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007450", "name": "hereditary central diabetes insipidus", "description": "" }, { "id": "MONDO:0007450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007450", "name": "neurogenic diabetes insipidus", "description": "" }, { "id": "MIM:125700", "resource": "MIM", "url": "https://www.omim.org/entry/125700", "name": "Diabetes insipidus, neurohypophyseal", "description": "Diabetes insipidus, neurohypophyseal" } ], "evidence": [ { "id": "125700", "database": "MIM", "url": "https://www.omim.org/entry/125700" } ] } ], "snv": [ { "evidence": [ { "id": "rs535682482", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs535682482" }, { "id": "rs535682482", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs535682482" }, { "id": "rs535682482", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs535682482" }, { "id": "rs535682482", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs535682482#frequency_tab" }, { "id": "rs535682482", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs535682482" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 107, "end_pos": 107, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DES->NES).", "chr_id": "20", "chr_pos": "3082980", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.002596", "site_lbl": "D107", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 28, "end_pos": 28, "sequence_org": "G", "sequence_mut": "V", "comment": "Gain of antagonist activity on V1aR/AVPR1A (and loss of agonist activity on this receptor). 42-fold decrease in affinity for V1aR/AVPR1A, 2000-fold decrease in affinity for V1bR/AVPR1B, 5-fold decrease in affinity for V2R/AVPR2 and no change in affinity for oxytocin receptor (OXTR).", "evidence": [ { "database": "UniProtKB", "id": "P01185", "url": "https://www.uniprot.org/uniprot/P01185" }, { "database": "PubMed", "id": "18174156", "url": "https://glygen.org/publication/PubMed/18174156" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "55.32", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000101200", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101200" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000101200", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101200" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "27.66", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000101200", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101200" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000101200", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101200" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000101200", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101200" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "16.94", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000101200", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101200" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000101200", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101200" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "44.91", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000101200", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101200" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "27.1", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000101200", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101200" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000101200", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101200" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "37.39", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000101200", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101200" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "31.59", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000101200", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101200" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "46.49", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000101200", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101200" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P01185", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01185" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": 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