AVP arginine vasopressin [Homo sapiens (human)] - Gene

Summary

Official Symbol: AVPprovided by HGNC
Official Full Name: arginine vasopressinprovided by HGNC
Primary source: HGNC:HGNC:894
See related: Ensembl:ENSG00000101200 MIM:192340; AllianceGenome:HGNC:894
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: VP; ADH; ARVP; AVRP; AVP-NPII
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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 20p13

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (3082556..3084724, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (3113454..3115623, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (3063202..3065370, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Glucagon-stimulated copeptin measurements in the differential diagnosis of diabetes insipidus: a double-blind, randomized, placebo-controlled study.
Title: Glucagon-stimulated copeptin measurements in the differential diagnosis of diabetes insipidus: a double-blind, randomized, placebo-controlled study.
Changed serum levels of CD62E(+), angiotensin II and copeptin in patients with chronic insomnia disorder: a link between insomnia and stroke?
Title: Changed serum levels of CD62E<sup>+</sup>, angiotensin II and copeptin in patients with chronic insomnia disorder: a link between insomnia and stroke?
Biomarkers-in-Cardiology 8 RE-VISITED-Consistent Safety of Early Discharge with a Dual Marker Strategy Combining a Normal hs-cTnT with a Normal Copeptin in Low-to-Intermediate Risk Patients with Suspected Acute Coronary Syndrome-A Secondary Analysis of the Randomized Biomarkers-in-Cardiology 8 Trial.
Title: Biomarkers-in-Cardiology 8 RE-VISITED-Consistent Safety of Early Discharge with a Dual Marker Strategy Combining a Normal hs-cTnT with a Normal Copeptin in Low-to-Intermediate Risk Patients with Suspected Acute Coronary Syndrome-A Secondary Analysis of the Randomized Biomarkers-in-Cardiology 8 Trial.
Exploring immunoreactivity of TTF-1 and AVP in hypothalamic hamartoma.
Title: Exploring immunoreactivity of TTF-1 and AVP in hypothalamic hamartoma.
Cardiac Rehabilitation with Targeted Intensity Improves Cardiopulmonary Functions Accompanying with Reduced Copeptin Level in Patients with Coronary Artery Disease.
Title: Cardiac Rehabilitation with Targeted Intensity Improves Cardiopulmonary Functions Accompanying with Reduced Copeptin Level in Patients with Coronary Artery Disease.
Postnatal AVP treatments prevent social deficit in adolescence of valproic acid-induced rat autism model.
Title: Postnatal AVP treatments prevent social deficit in adolescence of valproic acid-induced rat autism model.
Familial neurohypophyseal diabetes insipidus: clinical, genetic and functional studies of novel mutations in the arginine vasopressin gene.
Title: Familial neurohypophyseal diabetes insipidus: clinical, genetic and functional studies of novel mutations in the arginine vasopressin gene.
Vasopressin and copeptin release during sepsis and septic shock.
Title: Vasopressin and copeptin release during sepsis and septic shock.
The differential activation of cardiovascular hormones across distinct stages of portal hypertension predicts clinical outcomes.
Title: The differential activation of cardiovascular hormones across distinct stages of portal hypertension predicts clinical outcomes.
Copeptin, pro-atrial natriuretic peptide and pro-adrenomedullin as markers of hypoxic stress in patients with obstructive sleep apnea-a prospective intervention study.
Title: Copeptin, pro-atrial natriuretic peptide and pro-adrenomedullin as markers of hypoxic stress in patients with obstructive sleep apnea-a prospective intervention study.

Submit: New GeneRIF Correction See all GeneRIFs (237)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neurohypophyseal diabetes insipidus MedGen: C0342394 OMIM: 125700 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH98810 (e-PCR)
- UniSTS:88877

NoName (e-PCR)
- UniSTS:489664

NoName (e-PCR)
- UniSTS:494563

Homology

Homologs of the AVP gene: The AVP gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 141 organisms have orthologs with human gene AVP
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables V1A vasopressin receptor binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables V1A vasopressin receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables V1B vasopressin receptor binding	IEA Inferred from Electronic Annotation more info
enables cysteine-type endopeptidase inhibitor activity involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
enables neurohypophyseal hormone activity	IEA Inferred from Electronic Annotation more info
enables neuropeptide hormone activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables neuropeptide hormone activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables signaling receptor binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in generation of precursor metabolites and energy	TAS Traceable Author Statement more info	PubMed
involved_in grooming behavior	IEA Inferred from Electronic Annotation more info
involved_in hyperosmotic salinity response	IEA Inferred from Electronic Annotation more info
involved_in locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in maternal aggressive behavior	IEA Inferred from Electronic Annotation more info
involved_in maternal behavior	IEA Inferred from Electronic Annotation more info
involved_in multicellular organismal water homeostasis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of female receptivity	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of release of cytochrome c from mitochondria	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transmission of nerve impulse	IEA Inferred from Electronic Annotation more info
involved_in penile erection	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell growth	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cellular pH reduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of glutamate secretion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of peptidyl-serine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of prostaglandin biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of systemic arterial blood pressure	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vasoconstriction	IEA Inferred from Electronic Annotation more info
involved_in protein kinase C signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of renal sodium excretion	IEA Inferred from Electronic Annotation more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to nicotine	IEA Inferred from Electronic Annotation more info
involved_in response to testosterone	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in social behavior	IEA Inferred from Electronic Annotation more info
involved_in vasoconstriction	IEA Inferred from Electronic Annotation more info
involved_in viral entry into host cell	IDA Inferred from Direct Assay more info	PubMed
involved_in water transport	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in clathrin-coated endocytic vesicle membrane	TAS Traceable Author Statement more info
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info	PubMed
is_active_in secretory granule	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: vasopressin-neurophysin 2-copeptin

Names: antidiuretic hormone; copeptin; neurohypophyseal; prepro-AVP-NP II; prepro-arginine-vasopressin-neurophysin II; vasopressin-neurophysin II-copeptin

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.