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Homo sapiens arginine vasopressin (AVP), mRNA.
| RefSeq Version | NM_000490.4, 189095260 |
| Length | 621 bp |
| Structure | linear |
| Update Date | 16-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens arginine vasopressin (AVP), mRNA. |
| Product | vasopressin-neurophysin 2-copeptin preproprotein |
| Comment | Summary: This gene encodes a precursor protein consisting of arginine vasopressin and two associated proteins, neurophysin 2 and a glycopeptide, copeptin. Arginine vasopressin is a posterior pituitary hormone which 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). [provided by RefSeq]. |
| RefSeq | NP_000481.2 |
| CDS | 51..545 | Exon (1) | 1..170 | Exon (2) | 1..170 | Exon (3) | 171..372 | Exon (4) | 373..619 |
| Translation | MPDTMLPACFLGLLAFSSACYFQNCPRGGKRAMSDLELRQCLPCGPGGKGRCFGPSICCA
DELGCFVGTAEALRCQEENYLPSPCQSGQKACGSGGRCAAFGVCCNDESCVTEPECREGF
HRRARASDRSNATQLDGPAGALLLRLVQLAGAPEPFEPAQPDAY
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| Position | Chain | Variation | Link |
| 70 | + | c, t | dbSNP:121964892 |
| 111 | + | c, t | dbSNP:121964893 |
| 152 | + | c, t | dbSNP:3729964 |
| 193 | + | g, t | dbSNP:121964883 |
| 210 | + | c, g | dbSNP:121964888 |
| 211 | + | g, t | dbSNP:121964887 |
| complement(234) | - | t, c | dbSNP:112853843 |
| 250 | + | c, t | dbSNP:28934878 |
| 295 | + | c, t | dbSNP:5195 |
| 310 | + | c, t | dbSNP:121964890 |
| 312 | + | a, g | dbSNP:121964882 |
| 325 | + | a, g | dbSNP:121964891 |
| 327 | + | g, t | dbSNP:121964885 |
| 337 | + | g, t | dbSNP:121964886 |
| 344 | + | a, c | dbSNP:121964884 |
| 387 | + | g, t | dbSNP:121964889 |
| 396 | + | g, t | dbSNP:74315383 |
| 406 | + | g, t | dbSNP:1051744 |
| complement(515) | - | t, g | dbSNP:13041277 |
| complement(533) | - | g, a | dbSNP:13041150 |
| complement(539) | - | t, g | dbSNP:13041148 |
| 552 | + | c, t | dbSNP:1051746 |
| 554 | + | c, t | dbSNP:1051747 |
| 558 | + | c, t | dbSNP:1051748 |
| complement(565) | - | c, a | dbSNP:57591338 |
| complement(587) | - | t, g | dbSNP:13041122 |
| Gene Symbol | AVP |
| Gene Synonym | ADH; ARVP; AVP-NPII; AVRP; VP |
| Chromosome | 20 |
| Locus Map | 20p13 |
| All Transcripts | NM_000490 |
| Title | A Genome-Wide Association Study of Upper Aerodigestive Tract Cancers Conducted within the INHANCE Consortium . |
| Author | McKay,J.D., Truong,T., Gaborieau,V., Chabrier,A., Chuang,S.C., Byrnes,G., Zaridze,D., Shangina,O., Szeszenia-Dabrowska,N., Lissowska,J., Rudnai,P., Fabianova,E., Bucur,A., Bencko,V., Holcatova,I., Janout,V., Foretova,L., Lagiou,P., Trichopoulos,D., Benhamou,S., Bouchardy,C., Ahrens,W., Merletti,F., Richiardi,L., Talamini,R., Barzan,L., Kjaerheim,K., Macfarlane,G.J., Macfarlane,T.V., Simonato,L., Canova,C., Agudo,A., Castellsague,X., Lowry,R., Conway,D.I., McKinney,P.A., Healy,C.M., Toner,M.E., Znaor,A., Curado,M.P., Koifman,S., Menezes,A., Wunsch-Filho,V., Neto,J.E., Garrote,L.F., Boccia,S., Cadoni,G., Arzani,D., Olshan,A.F., Weissler,M.C., Funkhouser,W.K., Luo,J., Lubinski,J., Trubicka,J., Lener,M., Oszutowska,D., Schwartz,S.M., Chen,C., Fish,S., Doody,D.R., Muscat,J.E., Lazarus,P., Gallagher,C.J., Chang,S.C., Zhang,Z.F., Wei,Q., Sturgis,E.M., Wang,L.E., Franceschi,S., Herrero,R., Kelsey,K.T., McClean,M.D., Marsit,C.J., Nelson,H.H., Romkes,M., Buch,S., Nukui,T., Zhong,S., Lacko,M., Manni,J.J., Peters,W.H., Hung,R.J., McLaughlin,J., Vatten,L., Njolstad,I., Goodman,G.E., Field,J.K., Liloglou,T., Vineis,P., Clavel-Chapelon,F., Palli,D., Tumino,R., Krogh,V., Panico,S., Gonzalez,C.A., Quiros,J.R., Martinez,C., Navarro,C., Ardanaz,E., Larranaga,N., Khaw,K.T., Key,T., Bueno-de-Mesquita,H.B., Peeters,P.H., Trichopoulou,A., Linseisen,J., Boeing,H., Hallmans,G., Overvad,K., Tjonneland,A., Kumle,M., Riboli,E., Valk,K., Voodern,T., Metspalu,A., Zelenika,D., Boland,A., Delepine,M., Foglio,M., Lechner,D., Blanche,H., Gut,I.G., Galan,P., Heath,S., Hashibe,M., Hayes,R.B., Boffetta,P., Lathrop,M. and Brennan,P. |
| Journal | PLoS Genet. 7 (3), E1001333 (2011) |
| Title | Growth retardation in untreated autosomal dominant familial neurohypophyseal diabetes insipidus caused by one recurring and two novel mutations in the vasopressin-neurophysin II gene . |
| Author | Brachet,C., Birk,J., Christophe,C., Tenoutasse,S., Velkeniers,B., Heinrichs,C. and Rutishauser,J. |
| Journal | Eur. J. Endocrinol. 164 (2), 179-187 (2011) |
| Title | Prognostic value of copeptin: one-year outcome in patients with acute stroke . |
| Author | Urwyler,S.A., Schuetz,P., Fluri,F., Morgenthaler,N.G., Zweifel,C., Bergmann,A., Bingisser,R., Kappos,L., Steck,A., Engelter,S., Muller,B., Christ-Crain,M. and Katan,M. |
| Journal | Stroke 41 (7), 1564-1567 (2010) |
| Title | Association study of 182 candidate genes in anorexia nervosa . |
| Author | Pinheiro,A.P., Bulik,C.M., Thornton,L.M., Sullivan,P.F., Root,T.L., Bloss,C.S., Berrettini,W.H., Schork,N.J., Kaye,W.H., Bergen,A.W., Magistretti,P., Brandt,H., Crawford,S., Crow,S., Fichter,M.M., Goldman,D., Halmi,K.A., Johnson,C., Kaplan,A.S., Keel,P.K., Klump,K.L., La Via,M., Mitchell,J.E., Strober,M., Rotondo,A., Treasure,J. and Woodside,D.B. |
| Journal | Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B (5), 1070-1080 (2010) |
| Title | Copeptin in heart transplant recipients depends on kidney function and intraventricular septal thickness . |
| Author | Przybylowski,P., Malyszko,J. and Malyszko,J.S. |
| Journal | Transplant. Proc. 42 (5), 1808-1811 (2010) |
| Title | A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus . |
| Author | Bahnsen,U., Oosting,P., Swaab,D.F., Nahke,P., Richter,D. and Schmale,H. |
| Journal | EMBO J. 11 (1), 19-23 (1992) |
| Title | A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus . |
| Author | Ito,M., Mori,Y., Oiso,Y. and Saito,H. |
| Journal | J. Clin. Invest. 87 (2), 725-728 (1991) |
| Title | Linkage relationships of human arginine vasopressin-neurophysin-II and oxytocin-neurophysin-I to prodynorphin and other loci on chromosome 20 . |
| Author | Summar,M.L., Phillips,J.A. III, Battey,J., Castiglione,C.M., Kidd,K.K., Maness,K.J., Weiffenbach,B. and Gravius,T.C. |
| Journal | Mol. Endocrinol. 4 (6), 947-950 (1990) |
| Title | Molecular analysis of autosomal dominant neurohypophyseal diabetes insipidus . |
| Author | Repaske,D.R., Phillips,J.A. III, Kirby,L.T., Tze,W.J., D'Ercole,A.J. and Battey,J. |
| Journal | J. Clin. Endocrinol. Metab. 70 (3), 752-757 (1990) |
| Title | Arginine vasopressin enhances pHi regulation in the presence of HCO3- by stimulating three acid-base transport systems . |
| Author | Ganz,M.B., Boyarsky,G., Sterzel,R.B. and Boron,W.F. |
| Journal | Nature 337 (6208), 648-651 (1989) |
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