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
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
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Genomic context

Location:: 20p13

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
109.20210226	current	GRCh38.p13 (GCF_000001405.39)	20	NC_000020.11 (3082556..3093521, complement)
105.20201022	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

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature.
Title: A female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature.
Forty-One Individuals With Mutations in the AVP-NPII Gene Associated With Familial Neurohypophyseal Diabetes Insipidus.
Title: Forty-One Individuals With Mutations in the AVP-NPII Gene Associated With Familial Neurohypophyseal Diabetes Insipidus.
Copeptin Levels in Patients With Treatment-Resistant Hypertension Before and 6 Months After Renal Denervation.
Title: Copeptin Levels in Patients With Treatment-Resistant Hypertension Before and 6 Months After Renal Denervation.
Perioperative urinary excretion of aquaporin-2 dependent upon vasopressin in cardiac surgery.
Title: Perioperative urinary excretion of aquaporin-2 dependent upon vasopressin in cardiac surgery.
Influence of perioperative stress on central and peripheral oxytocin and arginine-vasopressin concentrations.
Title: Influence of perioperative stress on central and peripheral oxytocin and arginine-vasopressin concentrations.
Dynamics and structural communication in the ternary complex of fully phosphorylated V2 vasopressin receptor, vasopressin, and beta-arrestin 1.
Title: Dynamics and structural communication in the ternary complex of fully phosphorylated V2 vasopressin receptor, vasopressin, and β-arrestin 1.
Biological variation of arginine vasopressin.
Title: Biological variation of arginine vasopressin.
elevated copeptin associated with worse arterial stiffness in adolescents with type 1 diabetes
Title: Elevated copeptin, arterial stiffness, and elevated albumin excretion in adolescents with type 1 diabetes.
Elevated plasma copeptin is independently associated with nonalcoholic fatty liver disease in a South African population with mixed ethnicities.
Title: Copeptin relates to a fatty liver and measures of obesity in a South African population with mixed ethnicities.
Polymorphic variants located on the promoter region of arginine vasopressin are associated with preeclampsia. Thus we hypothesize that allelic variation may have a role in increasing the risk of developing preeclampsia.
Title: Association of arginine vasopressin (AVP) promoter polymorphisms with preeclampsia.

Submit: New GeneRIF Correction See all GeneRIFs (217)

Phenotypes

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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
A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium. GeneReviews: Not available
Neurohypophyseal diabetes insipidus MedGen: C0687720 OMIM: 125700 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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: 122 organisms have orthologs with human gene AVP
Orthologs

Gene Ontology Provided by GOA

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

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

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

General protein information

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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)

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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.