Akuaporin 2

AQP2
Struktur yang tersedia PDB Pencarian Ortolog: PDBe RCSB Daftar kode id PDB 4OJ2, 4NEF
Pengidentifikasi
Alias	AQP2, AQP-CD, WCH-CD, aquaporin 2, NDI2
ID eksternal	OMIM: 107777 MGI: 1096865 HomoloGene: 20137 GeneCards: AQP2
Lokasi gen (Tikus) Kr. Kromosom 15 (tikus)[1] Pita 15 F1|15 56.13 cM Awal 99,476,936 bp[1] Akhir 99,482,428 bp[1]
Pola ekspresi RNA Referensi data ekspresi selengkapnya
Ontologi gen Fungsi molekuler • aktivitas transporter • aktivitas transporter transmembran gliserol • aktivitas transporter transmembran air • aktivitas saluran air • GO:0001948, GO:0016582 Ikatan protein plasma • aktivitas saluran Komponen seluler • komponen integral membran • recycling endosome • badan Golgi • membran • Membran sel • transport vesicle membrane • membran plasma basolateral • membran plasma apikal • extracellular exosome • cytoplasmic vesicle membrane • GO:0016023 cytoplasmic vesicle • integral component of plasma membrane • lumenal side of membrane Proses biologis • cellular response to mercury ion • Ekskresi • transpor air • ion transmembrane transport • renal water transport • renal water homeostasis • cellular response to copper ion • metanephric collecting duct development • cellular response to water deprivation • glycerol transport • GO:0015915 transpor • transpor transmembran • protein homotetramerization Sumber:Amigo / QuickGO
Ortolog
Spesies	Manusia	Tikus
Entrez	359	11827
Ensembl	ENSG00000167580	ENSMUSG00000023013
UniProt	P41181	P56402
RefSeq (mRNA)	NM_000486	NM_009699
RefSeq (protein)	NP_000477	NP_033829
Lokasi (UCSC)	n/a	Chr 15: 99.48 – 99.48 Mb
Pencarian PubMed	[2]	[3]
Wikidata
Lihat/Sunting Manusia Lihat/Sunting Tikus

AQP2 ditemukan pada membran sel apikal sel utama duktus koligentes ginjal dan vesikel intraseluler yang terletak di seluruh sel.

Regulasi

Akuaporin 2 merupakan satu-satunya akuaporin yang diregulasi oleh vasopresin.[4] Fungsi dasar akuaporin 2 adalah untuk mereabsorbsi air dari urin ketika air tersebut dibuang dari darah oleh ginjal. Akuaporin 2 ditemukan pada sel epitel ginjal dan biasanya dorman di dalam membran vesikel intraseluler. Ketika dibutuhkan, vasopresin berikatan dengan reseptor vasopresin permukaan sel yang mengaktifkan jalur pensinyalan dan menyebabkan vesikel yang memuat akuaporin 2 untuk berfusi dengan membran plasma sehingga akuaporin 2 dapat digunakan oleh sel.[5]

Akuaporin ini diregulasi dengan dua cara oleh hormon peptida vasopresin, yaitu:

• Regulasi jangka pendek (menit) melalui lalu lintas vesikel AQP2 ke wilayah apikal yang kemudian berfusi dengan membran plasma apikal.
• Regulasi jangka panjang (hari) melalui peningkatan ekspresi gen AQP2.

Akuaporin ini juga diregulasi oleh asupan makanan. Berpuasa mengurangi ekspresi akuaporin ini yang tak bergantung vasopresin.

Signifikansi klinis

Mutasi saluran ini diasosiasikan dengan diabetes insipidus nefrogenik, yang dapat berupa dominan atau resesif autosomal. Mutasi pada reseptor vasopresin menyebabkan fenotipe terpaut-X serupa.

Litium, sering digunakan untuk mengobati gangguan bipolar, dapat menyebabkan diabetes insipidus perolehan (ditandai dengan ekskresi urin encer bervolume besar) dengan menurunkan ekspresi gen AQP2.

Ekspresi gen AQP2 meningkat dalam kondisi yang berkaitan dengan retensi air, seperti kehamilan dan gagal jantung kongestif.

Lihat juga

• Akuaporin

Referensi

1. GRCm38: Ensembl release 89: ENSMUSG00000023013 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. 
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. 
4. Dibas AI, Mia AJ, Yorio T (Desember 1998). "Aquaporins (water channels): role in vasopressin-activated water transport". Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine. 219 (3): 183–99. doi:10.3181/00379727-219-44332. PMID 9824541. 
5. Lodish H, Berk A, Kaiser CA, Krieger M, Scott MP, Bretscher A, Ploegh H, Matsudaira P (2008). Molecular Cell Biology (edisi ke-6th). New York: Freeman. hlm. 445. ISBN 978-0-7167-7601-7. 

Bacaan lanjutan

• Bichet DG (April 2006). "Nephrogenic diabetes insipidus". Advances in Chronic Kidney Disease. 13 (2): 96–104. doi:10.1053/j.ackd.2006.01.006. PMC 2124392 . PMID 16580609. 
• Bouley R, Hasler U, Lu HA, Nunes P, Brown D (May 2008). "Bypassing vasopressin receptor signaling pathways in nephrogenic diabetes insipidus". Seminars in Nephrology. 28 (3): 266–78. doi:10.1016/j.semnephrol.2008.03.010. PMC 2494582 . PMID 18519087. 
• Robben JH, Knoers NV, Deen PM (August 2006). "Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus". American Journal of Physiology. Renal Physiology. 291 (2): F257–70. doi:10.1152/ajprenal.00491.2005. PMID 16825342. 
• Sasaki S, Fushimi K, Saito H, Saito F, Uchida S, Ishibashi K, Kuwahara M, Ikeuchi T, Inui K, Nakajima K (March 1994). "Cloning, characterization, and chromosomal mapping of human aquaporin of collecting duct". The Journal of Clinical Investigation. 93 (3): 1250–6. doi:10.1172/JCI117079. PMC 294077 . PMID 7510718. 
• Deen PM, Weghuis DO, Sinke RJ, Geurts van Kessel A, Wieringa B, van Os CH (1994). "Assignment of the human gene for the water channel of renal collecting duct Aquaporin 2 (AQP2) to chromosome 12 region q12-->q13". Cytogenetics and Cell Genetics. 66 (4): 260–2. doi:10.1159/000133707. PMID 7512890. 
• Uchida S, Sasaki S, Fushimi K, Marumo F (September 1994). "Isolation of human aquaporin-CD gene". The Journal of Biological Chemistry. 269 (38): 23451–5. PMID 7522228. 
• van Lieburg AF, Verdijk MA, Knoers VV, van Essen AJ, Proesmans W, Mallmann R, Monnens LA, van Oost BA, van Os CH, Deen PM (October 1994). "Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene". American Journal of Human Genetics. 55 (4): 648–52. PMC 1918308 . PMID 7524315. 
• Saito F, Sasaki S, Chepelinsky AB, Fushimi K, Marumo F, Ikeuchi T (1994). "Human AQP2 and MIP genes, two members of the MIP family, map within chromosome band 12q13 on the basis of two-color FISH". Cytogenetics and Cell Genetics. 68 (1-2): 45–8. doi:10.1159/000133885. PMID 7525161. 
• Nielsen S, Chou CL, Marples D, Christensen EI, Kishore BK, Knepper MA (February 1995). "Vasopressin increases water permeability of kidney collecting duct by inducing translocation of aquaporin-CD water channels to plasma membrane". Proceedings of the National Academy of Sciences of the United States of America. 92 (4): 1013–7. doi:10.1073/pnas.92.4.1013. PMC 42627 . PMID 7532304. 
• Brown D (May 2003). "The ins and outs of aquaporin-2 trafficking". American Journal of Physiology. Renal Physiology. 284 (5): F893–901. doi:10.1152/ajprenal.00387.2002. PMID 12676734. 
• Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1-2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298. 
• Deen PM, Verdijk MA, Knoers NV, Wieringa B, Monnens LA, van Os CH, van Oost BA (April 1994). "Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine". Science. 264 (5155): 92–5. doi:10.1126/science.8140421. PMID 8140421. 
• Oksche A, Möller A, Dickson J, Rosendahl W, Rascher W, Bichet DG, Rosenthal W (November 1996). "Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus". Human Genetics. 98 (5): 587–9. doi:10.1007/s004390050264. PMID 8882880. 
• Mulders SM, Knoers NV, Van Lieburg AF, Monnens LA, Leumann E, Wühl E, Schober E, Rijss JP, Van Os CH, Deen PM (February 1997). "New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels". Journal of the American Society of Nephrology. 8 (2): 242–8. PMID 9048343. 
• Ma T, Yang B, Umenishi F, Verkman AS (August 1997). "Closely spaced tandem arrangement of AQP2, AQP5, and AQP6 genes in a 27-kilobase segment at chromosome locus 12q13". Genomics. 43 (3): 387–9. doi:10.1006/geno.1997.4836. PMID 9268644. 
• Canfield MC, Tamarappoo BK, Moses AM, Verkman AS, Holtzman EJ (October 1997). "Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response". Human Molecular Genetics. 6 (11): 1865–71. doi:10.1093/hmg/6.11.1865. PMID 9302264. 
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1-2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149. 
• Vargas-Poussou R, Forestier L, Dautzenberg MD, Niaudet P, Déchaux M, Antignac C (December 1997). "Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus". Journal of the American Society of Nephrology. 8 (12): 1855–62. PMID 9402087. 
• Kuwahara M (February 1998). "Aquaporin-2, a vasopressin-sensitive water channel, and nephrogenic diabetes insipidus". Internal Medicine. 37 (2): 215–7. doi:10.2169/internalmedicine.37.215. PMID 9550615. 
• Mulders SM, Bichet DG, Rijss JP, Kamsteeg EJ, Arthus MF, Lonergan M, Fujiwara M, Morgan K, Leijendekker R, van der Sluijs P, van Os CH, Deen PM (July 1998). "An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex". The Journal of Clinical Investigation. 102 (1): 57–66. doi:10.1172/JCI2605. PMC 509065 . PMID 9649557. 
• Goji K, Kuwahara M, Gu Y, Matsuo M, Marumo F, Sasaki S (September 1998). "Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function". The Journal of Clinical Endocrinology and Metabolism. 83 (9): 3205–9. doi:10.1210/jc.83.9.3205. PMID 9745427. 
• Saito T, Ishikawa S, Ito T, Oda H, Ando F, Higashiyama M, Nagasaka S, Hieda M, Saito T (June 1999). "Urinary excretion of aquaporin-2 water channel differentiates psychogenic polydipsia from central diabetes insipidus". The Journal of Clinical Endocrinology and Metabolism. 84 (6): 2235–7. doi:10.1210/jc.84.6.2235. PMID 10372737. 

Pranala luar

• GeneReviews/NCBI/NIH/UW entri Diabetes Insipidus Nefrogenik
• MeSH Aquaporin+2
• Lokasi genom AQP2 manusia dan halaman rincian gen AQP2 dalam UCSC Genome Browser.