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AVP arginine vasopressin [ Homo sapiens (human) ]

Gene ID: 551, updated on 26-Jun-2022

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
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Genomic context

See AVP in Genome Data Viewer
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_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929098 Neighboring gene CRISPRi-validated cis-regulatory element chr20.213 Neighboring gene oxytocin/neurophysin I prepropeptide Neighboring gene RNA, 7SL, cytoplasmic 555, pseudogene Neighboring gene UBOX5 antisense RNA 1 Neighboring gene U-box domain containing 5 Neighboring gene FAST kinase domains 5

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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

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.

Genomic

  1. NG_008663.1 RefSeqGene

    Range
    5001..7169
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_715

mRNA and Protein(s)

  1. NM_000490.5NP_000481.2  vasopressin-neurophysin 2-copeptin preproprotein

    See identical proteins and their annotated locations for NP_000481.2

    Status: REVIEWED

    Source sequence(s)
    BC126196, BG715518
    Consensus CDS
    CCDS13045.1
    UniProtKB/Swiss-Prot
    P01185
    UniProtKB/TrEMBL
    X5DQP6
    Related
    ENSP00000369647.3, ENST00000380293.3
    Conserved Domains (1) summary
    smart00003
    Location:39116
    NH; Neurohypophysial hormones

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    3082556..3084724 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    3113454..3115623 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)