Associated with
Other Information
Genular Protein ID: 3087139650
Symbol: AQP2_HUMAN
Name: Aquaporin-2
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 8140421
Title: Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine.
PubMed ID: 8140421
PubMed ID: 7522228
PubMed ID: 7524315
Title: Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene.
PubMed ID: 7524315
PubMed ID: 7510718
Title: Cloning, characterization, and chromosomal mapping of human aquaporin of collecting duct.
PubMed ID: 7510718
DOI: 10.1172/jci117079
PubMed ID: 11929850
Title: Heteroligomerization of an aquaporin-2 mutant with wild-type aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus.
PubMed ID: 11929850
DOI: 10.1093/hmg/11.7.779
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 12194985
Title: The role of putative phosphorylation sites in the targeting and shuttling of the aquaporin-2 water channel.
PubMed ID: 12194985
PubMed ID: 32176498
Title: Micropeptide MIAC Inhibits HNSCC Progression by Interacting with Aquaporin 2.
PubMed ID: 32176498
DOI: 10.1021/jacs.0c00706
PubMed ID: 36117171
Title: Micropeptide MIAC inhibits the tumor progression by interacting with AQP2 and inhibiting EREG/EGFR signaling in renal cell carcinoma.
PubMed ID: 36117171
PubMed ID: 24733887
Title: X-ray structure of human aquaporin 2 and its implications for nephrogenic diabetes insipidus and trafficking.
PubMed ID: 24733887
PubMed ID: 8882880
Title: Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus.
PubMed ID: 8882880
PubMed ID: 9302264
Title: Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response.
PubMed ID: 9302264
PubMed ID: 9048343
Title: New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels.
PubMed ID: 9048343
DOI: 10.1681/asn.v82242
PubMed ID: 9402087
Title: Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus.
PubMed ID: 9402087
DOI: 10.1681/asn.v8121855
PubMed ID: 9550615
Title: Aquaporin-2, a vasopressin-sensitive water channel, and nephrogenic diabetes insipidus.
PubMed ID: 9550615
PubMed ID: 9649557
Title: An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex.
PubMed ID: 9649557
DOI: 10.1172/jci2605
PubMed ID: 9745427
Title: Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function.
PubMed ID: 9745427
PubMed ID: 12191971
Title: Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus.
PubMed ID: 12191971
PubMed ID: 12050236
Title: Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families.
PubMed ID: 12050236
PubMed ID: 15509592
Title: A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L.
PubMed ID: 15509592
DOI: 10.1093/hmg/ddh339
PubMed ID: 16120822
Title: Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus.
PubMed ID: 16120822
PubMed ID: 16361827
Title: Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus.
PubMed ID: 16361827
PubMed ID: 16845277
Title: Novel mutations underlying nephrogenic diabetes insipidus in Arab families.
PubMed ID: 16845277
PubMed ID: 19585583
Title: p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation.
PubMed ID: 19585583
DOI: 10.1002/humu.21082
PubMed ID: 19701945
Title: Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus.
PubMed ID: 19701945
DOI: 10.1002/humu.21068
PubMed ID: 24944815
Title: Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene.
PubMed ID: 24944815
DOI: 10.3892/br.2014.283
Sequence Information:
- Length: 271
- Mass: 28837
- Checksum: C2DDE2AF4DDD192A
- Sequence:
MWELRSIAFS RAVFAEFLAT LLFVFFGLGS ALNWPQALPS VLQIAMAFGL GIGTLVQALG HISGAHINPA VTVACLVGCH VSVLRAAFYV AAQLLGAVAG AALLHEITPA DIRGDLAVNA LSNSTTAGQA VTVELFLTLQ LVLCIFASTD ERRGENPGTP ALSIGFSVAL GHLLGIHYTG CSMNPARSLA PAVVTGKFDD HWVFWIGPLV GAILGSLLYN YVLFPPAKSL SERLAVLKGL EPDTDWEERE VRRRQSVELH SPQSLPRGTK A
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.