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
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Genomic context

Location:: 20p13

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (3082556..3084724, complement)
RS_2023_10	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

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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?

Testing for Arginine Vasopressin Deficiency.
Title: Testing for Arginine Vasopressin Deficiency.
The association of copeptin with metabolic risk markers is modified by region of origin.
Title: The association of copeptin with metabolic risk markers is modified by region of origin.
Copeptin analysis in endocrine disorders.
Title: Copeptin analysis in endocrine disorders.
Short-term association between outdoor temperature and the hydration-marker copeptin: a pooled analysis in five cohorts.
Title: Short-term association between outdoor temperature and the hydration-marker copeptin: a pooled analysis in five cohorts.
Arginine Vasopressin Plays a Role in Microvascular Dysfunction After ST-Elevation Myocardial Infarction.
Title: Arginine Vasopressin Plays a Role in Microvascular Dysfunction After ST-Elevation Myocardial Infarction.
Stimulatory effects of vasopressin on progesterone production and BMP signaling by ovarian granulosa cells.
Title: Stimulatory effects of vasopressin on progesterone production and BMP signaling by ovarian granulosa cells.
[Oxytocin and vasopressin: sexual differences and clinical implications].
Title: [Oxytocin and vasopressin: sexual differences and clinical implications].
The Role of Oxytocin and Vasopressin in Drug-Induced Reward-Implications for Social and Non-Social Factors.
Title: The Role of Oxytocin and Vasopressin in Drug-Induced Reward-Implications for Social and Non-Social Factors.
Serum Copeptin in Cardiooncology Practice: Review of Pathophysiological and Clinical Implications.
Title: Serum Copeptin in Cardiooncology Practice: Review of Pathophysiological and Clinical Implications.
Linking oxytocin and arginine vasopressin signaling abnormalities to social behavior impairments in Prader-Willi syndrome.
Title: Linking oxytocin and arginine vasopressin signaling abnormalities to social behavior impairments in Prader-Willi syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (248)

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
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

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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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables V1A vasopressin receptor binding	IBA Inferred from Biological aspect of Ancestor more info
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
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 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 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-level 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 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 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
located_in neuronal dense core vesicle	IEA Inferred from Electronic Annotation more info
is_active_in secretory granule	IBA Inferred from Biological aspect of Ancestor more info

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.