Reviewed April 2010
What is the official name of the AVP gene?
The official name of this gene is “arginine vasopressin.”
AVP is the gene's official symbol. The AVP gene is also known by other names, listed below.
What is the normal function of the AVP gene?
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.
How are changes in the AVP gene related to health conditions?
- neurohypophyseal diabetes insipidus - caused by mutations in the AVP gene
At least 60 mutations in the AVP gene have been found to cause neurohypophyseal diabetes insipidus. Most of these mutations change single protein building blocks (amino acids) in the preprohormone or result in the production of an abnormally short version of this molecule. Studies suggest that the altered preprohormone becomes trapped inside the cells where it is produced instead of being transported to the pituitary gland. As the defective molecule builds up over time, it damages and ultimately kills these cells. The resulting shortage of ADH prevents the kidneys from reabsorbing water as they should, and the body makes excessive amounts of urine. These problems with water balance are characteristic of neurohypophyseal diabetes insipidus.
Where is the AVP gene located?
Cytogenetic Location: 20p13
Molecular Location on chromosome 20: base pairs 3,063,201 to 3,065,369
The AVP gene is located on the short (p) arm of chromosome 20 at position 13.
More precisely, the AVP gene is located from base pair 3,063,201 to base pair 3,065,369 on chromosome 20.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about AVP?
You and your healthcare professional may find the following resources about AVP helpful.
Educational resources - Information pages
- Colorado State University: Antidiuretic Hormone (Vasopressin) (http://www.vivo.colostate.edu/hbooks/pathphys/endocrine/hypopit/adh.html)
- Endocrinology: An Intergrated Approach (2001): Vasopressin deficiency - diabetes insipidus (http://www.ncbi.nlm.nih.gov/books/NBK27/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for AVP (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=551%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((AVP%5BTI%5D)%20OR%20(vasopressin%5BTI%5D)%20OR%20(ADH%5BTI%5D)%20OR%20(antidiuretic%20hormone%5BTI%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/192340)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_AVP.html)
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/551)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=551)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=894)
What other names do people use for the AVP gene or gene products?
- antidiuretic hormone
- vasopressin-neurophysin 2-copeptin
- vasopressin-neurophysin 2-copeptin preproprotein
- vasopressin-neurophysin II-copeptin
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding AVP?
pituitary gland ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Christensen JH, Rittig S. Familial neurohypophyseal diabetes insipidus--an update. Semin Nephrol. 2006 May;26(3):209-23. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16713494?dopt=Abstract)
- Christensen JH, Siggaard C, Corydon TJ, deSanctis L, Kovacs L, Robertson GL, Gregersen N, Rittig S. Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis. Eur J Hum Genet. 2004 Jan;12(1):44-51. (http://www.ncbi.nlm.nih.gov/pubmed/14673472?dopt=Abstract)
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/551)
- Grant FD, Ahmadi A, Hosley CM, Majzoub JA. Two novel mutations of the vasopressin gene associated with familial diabetes insipidus and identification of an asymptomatic carrier infant. J Clin Endocrinol Metab. 1998 Nov;83(11):3958-64. (http://www.ncbi.nlm.nih.gov/pubmed/9814475?dopt=Abstract)
- Ito M, Mori Y, Oiso Y, Saito H. A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus. J Clin Invest. 1991 Feb;87(2):725-8. (http://www.ncbi.nlm.nih.gov/pubmed/1840604?dopt=Abstract)
- Nagasaki H, Ito M, Yuasa H, Saito H, Fukase M, Hamada K, Ishikawa E, Katakami H, Oiso Y. Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus. J Clin Endocrinol Metab. 1995 Apr;80(4):1352-6. (http://www.ncbi.nlm.nih.gov/pubmed/7714110?dopt=Abstract)
- Repaske DR, Summar ML, Krishnamani MR, Gültekin EK, Arriazu MC, Roubicek ME, Blanco M, Isaac GB, Phillips JA 3rd. Recurrent mutations in the vasopressin-neurophysin II gene cause autosomal dominant neurohypophyseal diabetes insipidus. J Clin Endocrinol Metab. 1996 Jun;81(6):2328-34. (http://www.ncbi.nlm.nih.gov/pubmed/8964872?dopt=Abstract)
- Rittig S, Robertson GL, Siggaard C, Kovács L, Gregersen N, Nyborg J, Pedersen EB. Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus. Am J Hum Genet. 1996 Jan;58(1):107-17. (http://www.ncbi.nlm.nih.gov/pubmed/8554046?dopt=Abstract)
- Siggaard C, Rittig S, Corydon TJ, Andreasen PH, Jensen TG, Andresen BS, Robertson GL, Gregersen N, Bolund L, Pedersen EB. Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation. J Clin Endocrinol Metab. 1999 Aug;84(8):2933-41. (http://www.ncbi.nlm.nih.gov/pubmed/10443701?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.