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    AVP arginine vasopressin [ Homo sapiens (human) ]

    Gene ID: 551, updated on 10-Dec-2024

    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
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (3082556..3084724, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (3113454..3115623, complement)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid silent region 12612 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17475 Neighboring gene mitochondrial ribosomal protein S26 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3039761-3040262 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3040263-3040762 Neighboring gene uncharacterized LOC101929098 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12613 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3053517-3054052 Neighboring gene CRISPRi-validated cis-regulatory element chr20.213 Neighboring gene oxytocin/neurophysin I prepropeptide Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:3073228-3073728 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:3073729-3074229 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (19 hits/1255 screens)

    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

    General gene information

    Gene Ontology Provided by GOA

    Items 1 - 25 of 28
    Process Evidence Code Pubs
    involved_in cell-cell signaling PubMed 
    involved_in generation of precursor metabolites and energy PubMed 
    involved_in grooming behavior  
    involved_in intracellular signal transduction PubMed 
    involved_in locomotory behavior  
    involved_in maternal aggressive behavior  
    involved_in maternal behavior  
    involved_in multicellular organismal-level water homeostasis  
    involved_in negative regulation of apoptotic process PubMed 
    involved_in negative regulation of female receptivity  
    involved_in negative regulation of transmission of nerve impulse  
    involved_in positive regulation of cell growth  
    involved_in positive regulation of cell population proliferation  
    involved_in positive regulation of cellular pH reduction  
    involved_in positive regulation of cytosolic calcium ion concentration  
    involved_in positive regulation of gene expression PubMed 
    involved_in positive regulation of glutamate secretion  
    involved_in positive regulation of prostaglandin biosynthetic process  
    involved_in positive regulation of systemic arterial blood pressure  
    involved_in positive regulation of vasoconstriction  
    involved_in response to ethanol  
    involved_in response to nicotine  
    involved_in response to testosterone  
    involved_in signal transduction PubMed 
    involved_in social behavior  
    involved_in symbiont entry into host cell PubMed 
    involved_in vasoconstriction  
    involved_in water transport PubMed 
    Items 1 - 25 of 28
    Component Evidence Code Pubs
    located_in clathrin-coated endocytic vesicle membrane  
    located_in cytosol  
    located_in dendrite  
    located_in extracellular region PubMed 
    located_in extracellular region  
    is_active_in extracellular space  
    located_in neuronal dense core vesicle  
    is_active_in secretory granule  

    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_000490.5 → NP_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
      A0AV35, O14935, P01185
      UniProtKB/TrEMBL
      X5DQP6
      Related
      ENSP00000369647.3, ENST00000380293.3
      Conserved Domains (1) summary
      smart00003
      Location:39 → 116
      NH; Neurohypophysial hormones

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)
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