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AVP - arginine vasopressin (human)

Gene
Symbol
Dates
  • Create:
    2016-09-14
  • Modify:
    2024-12-23
Description
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]
Enables cysteine-type endopeptidase inhibitor activity involved in apoptotic process; protein kinase activity; and signaling receptor binding activity. Involved in several processes, including negative regulation of apoptotic process; positive regulation of gene expression; and symbiont entry into host cell. Located in extracellular region. Implicated in diabetes insipidus and neurohypophyseal diabetes insipidus.

The AVP gene provides instructions for making a hormone called vasopressin or antidiuretic hormone (ADH). ADH starts out as a larger molecule called a preprohormone, which is cut (cleaved) and modified to produce the active hormone and several related proteins. The preprohormone is made in a region of the brain called the hypothalamus. It is then transported to the nearby pituitary gland, where active ADH is stored until it is needed.

The major function of ADH is to help control the body's water balance by determining how much water is excreted in urine. Normally, when a person's fluid intake is low or when a lot of fluid is lost (for example, through sweating), the pituitary gland releases more ADH into the bloodstream. High levels of this hormone direct the kidneys to reabsorb more water and to make less urine. When fluid intake is adequate, the pituitary gland releases less ADH. Lower levels of this hormone cause the kidneys to reabsorb less water and to make more urine.

1 Names and Identifiers

1.1 Synonyms

  • ADH
  • ARVP
  • AVP-NPII
  • AVRP
  • VP
  • vasopressin-neurophysin 2-copeptin
  • antidiuretic hormone
  • copeptin
  • neurohypophyseal
  • prepro-AVP-NP II
  • prepro-arginine-vasopressin-neurophysin II
  • vasopressin-neurophysin II-copeptin

1.2 Other Identifiers

1.2.1 HGNC ID

1.2.2 Ensembl ID

1.2.3 Alliance Gene ID

1.2.4 Bgee Gene ID

1.2.5 GenCC ID

1.2.6 KEGG Gene

1.2.7 MIM Number

1.2.8 NCI Thesaurus Code

1.2.9 Open Targets ID

1.2.10 PharmGKB ID

1.2.11 Pharos Target

1.2.12 VEuPathDB ID

1.2.13 Wikidata

3 Proteins

3.1 Protein Function

Specifically binds vasopressin.

Has a direct antidiuretic action on the kidney, it also causes vasoconstriction of the peripheral vessels. Acts by binding to vasopressin receptors (V1bR/AVPR1B, V1aR/AVPR1A, and V2R/AVPR2) (PMID: 18174156).

3.2 Protein 3D Structures

3.2.1 PDB Structures

3.2.2 AlphaFold Structures

Highly accurate protein structure prediction with AlphaFold. Nature. 2021 Aug;596(7873):583-589. DOI:10.1038/s41586-021-03819-2. PMID:34265844; PMCID:PMC8371605

3.3 Protein Targets

4 BioAssays

4.1 RNAi BioAssays

5 Diseases and Phenotypes

5.1 GHR Health Conditions

5.2 KEGG Diseases

5.3 OMIM Phenotypes

5.4 MedGen Diseases

5.5 Gene-Disease Associations

6 Interactions and Pathways

6.1 Chemical-Gene Interactions

6.2 Interactions

6.3 Pathways

7 Biochemical Reactions

8 Expression

9 Biomarker Information

10 Target Development Level

11 Literature

11.1 Consolidated References

11.2 Gene-Chemical Co-Occurrences in Literature

11.3 Gene-Gene Co-Occurrences in Literature

11.4 Gene-Disease Co-Occurrences in Literature

12 Patents

12.1 Gene-Chemical Co-Occurrences in Patents

12.2 Gene-Gene Co-Occurrences in Patents

12.3 Gene-Disease Co-Occurrences in Patents

13 Classification

13.1 Gene Family

13.2 NCI Thesaurus Tree

13.3 Gene Ontology: Biological Process

13.4 Gene Ontology: Cellular Component

13.5 Gene Ontology: Molecular Function

14 Information Sources

  1. NCBI Gene
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    https://www.ncbi.nlm.nih.gov/home/about/policies/
  2. PubChem
  3. Alliance of Genome Resources
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    https://www.alliancegenome.org/privacy-warranty-licensing
  4. MedlinePlus Genetics
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    https://medlineplus.gov/about/using/usingcontent/
  5. BioGRID
    LICENSE
    The MIT License (MIT); Copyright Mike Tyers Lab
    https://wiki.thebiogrid.org/doku.php/terms_and_conditions
  6. STRING: functional protein association networks
  7. Comparative Toxicogenomics Database (CTD)
    LICENSE
    It is to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of NC State University.
    http://ctdbase.org/about/legal.jsp
  8. Open Targets
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    Datasets generated by the Open Targets Platform are freely available for download.
    https://platform-docs.opentargets.org/licence
  9. Gene Curation Coalition (GenCC)
    LICENSE
    The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication.
    https://thegencc.org/terms.html
    AVP
  10. HUGO Gene Nomenclature Committee (HGNC)
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    No restrictions are imposed on access to, or use of, the data provided by the HGNC, which are provided to enhance knowledge and encourage progress in the scientific community.
    https://www.genenames.org/about/
  11. KEGG
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    https://www.kegg.jp/kegg/legal.html
  12. MarkerDB
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    This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
    https://markerdb.ca/
  13. NCBI Gene Expression Omnibus (GEO)
  14. NCBI MedGen
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    https://www.ncbi.nlm.nih.gov/home/about/policies/
  15. NCI Thesaurus (NCIt)
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    https://www.cancer.gov/policies/copyright-reuse
  16. Online Mendelian Inheritance in Man (OMIM)
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    https://omim.org/help/copyright
  17. PharmGKB
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    PharmGKB data are subject to the Creative Commons Attribution-ShareALike 4.0 license (https://creativecommons.org/licenses/by-sa/4.0/).
    https://www.pharmgkb.org/page/policies
  18. Pharos
    LICENSE
    Data accessed from Pharos and TCRD is publicly available from the primary sources listed above. Please respect their individual licenses regarding proper use and redistribution.
    https://pharos.nih.gov/about
  19. RCSB Protein Data Bank (RCSB PDB)
    LICENSE
    Data files contained in the PDB archive (ftp://ftp.wwpdb.org) are free of all copyright restrictions and made fully and freely available for both non-commercial and commercial use. Users of the data should attribute the original authors of that structural data.
    https://www.rcsb.org/pages/policies
  20. Swiss Institute of Bioinformatics Bgee
    LICENSE
    Creative Commons Zero license (CC0)
    https://www.bgee.org/about/
  21. UniProt
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    We have chosen to apply the Creative Commons Attribution (CC BY 4.0, http://creativecommons.org/licenses/by/4.0/) License to all copyrightable parts of our databases.
    https://www.uniprot.org/help/license
  22. VEuPathDB: The Eukaryotic Pathogen, Vector and Host Informatics Resource
    LICENSE
    All data on VEuPathDB websites are provided freely for public use.
    https://veupathdb.org/veupathdb/app/static-content/about.html
  23. Wikidata
  24. Gene Ontology (GO)
    LICENSE
    Gene Ontology Consortium data and data products are licensed under the Creative Commons Attribution 4.0 Unported License (https://creativecommons.org/licenses/by/4.0/legalcode)
    http://geneontology.org/docs/go-citation-policy/
  25. AlphaFold DB
    LICENSE
    All of the data provided is freely available for both academic and commercial use under Creative Commons Attribution 4.0 (CC-BY 4.0) licence terms.
    https://alphafold.ebi.ac.uk/faq
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