Property Summary

NCBI Gene PubMed Count 78
PubMed Score 244.69
PubTator Score 237.25

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
diabetes mellitus 1.100 5.4e-03
psoriasis 1.500 1.9e-10

Gene RIF (31)

PMID Text
26615967 defects in AQP-0 permeability may be a cause for presbyopia.
25946197 the p.D150H mutation is a novel disease-causing mutation in MIP, which leads to congenital progressive cortical punctate cataract by impairing the trafficking mechanism of AQP0.
25803033 Authors identified a novel nonsense mutation in MIP (c.657 C>G; p.Y219*) (major intrinsic protein gene) that segregates with congenital posterior polar cataract in a Chinese family.
25033405 Functional evidence linking the new MIP mutation of G215D to autosomal dominant congenital cataracts.
24405844 the first nonsense mutation of MIP identified in autosomal dominant congenital cataracts
24319327 A novel donor splice-site mutation (c.606+1G>A) in the MIP gene causes congenital cataract in a Chinese family.
23116563 Mutation of this conserved glycine residue leads to improper trafficking of AQP0-G165D and loss of water channel function.
22662182 Aquaporin 0 R233K mutation did not affect the expression, location and trafficking of the protein but did influence the interaction between AQP0 and CaM.
22036630 Direct tissue analysis led to the detection of aging-related AQP0 modifications including carbamylation, acetylation, and oleoylation.
21921980 Major intrinsic protein (MIP) polymorphism is associated with age-related cataract in Chinese.
21850180 Cerulean cataract has been mapped to chromosome 12q13 and associated with a novel initiation codon mutation in MIP.
21647270 A novel mutation in the MIP gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.
21245956 analysis of a novel disease-causing mutation p.R187C in MIP in a Chinese cataract family
21232536 AQP-0 gene expression was 3.4-fold higher in rat retinas. AQP-0 was predominantly expressed in the bipolar cells of the non-diabetic rat retinas, whereas it was also expressed in the retinal nerve fibers of diabetic rat retinas
21139677 This is the first report of activation of a cryptic splice site in the 3' UTR in the human MIP gene.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20361015 This study has identified a novel MIP mutation, p.V107I in a Chinese family with congenital cataracts.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19857466 this is the first report validating the possible structural role of intact AQP0 as a cell-to-cell adhesion protein, using an in vitro expression system.
19723544 Only in the presence of both MIP and hMafF could the nUS2-pLacZi reporter in yeast genome be activated.
19137077 This is the first report on an acceptor splice-site mutation in human genes associated with dominant congenital cataract.
18501347 deletion mutation in AQP0 resulted in the localization of the mutant protein in the ER without trafficking to the plasma membrane, and cytotoxicity due to the accumulation of the mutant protein
18247294 To map the disease locus for a congenital cataract family, and detect the disease-causing gene.
18004741 presence of measurable interactions between MIP26 and all crystallins, with the extent of interactions decreasing from alphaA- and alphaB-crystallin to betaB2- and gammaC-crystallin.
17960133 Arginine in this domain plays a crucial role in the function of the carboxyl-end of this protein and provides a helpful clue to further studies on completely understanding the physiological significance of MIP and its role in the formation of cataract.
17932686 The structure of aquaporin-0 (AQP0) has recently been determined by electron crystallography of two-dimensional crystals and by X-ray crystallography of three-dimensional crystals--REVIEW
17893667 First dominant cataract mutation in MIP that is located outside the phylogenetically conserved transmembrane domain.
16564824 We identified a novel single base pair deletion in the MIP gene and conclude that it is a pathogenic sequence alteration.
16549056 Expression of hMafF or MIP alone did not alter basal reporter transcription activity, whereas co-expression of hMafF and MIP activated transcription efficiently.
15274640 Analysis of C-terminal peptides of AQP0 from normal lenses of donors aged 34 to 38 reveals a remarkably similar pattern and distribution of truncation products, suggesting specific temporal mechanisms for post-translational modification of AQP0.
12522663 In human, multiple aquaporins are expressed in developing teeth and in selected orofacial tissues.

AA Sequence

MWELRSASFWRAIFAEFFATLFYVFFGLGSSLRWAPGPLHVLQVAMAFGLALATLVQSVGHISGAHVNPA      1 - 70
VTFAFLVGSQMSLLRAFCYMAAQLLGAVAGAAVLYSVTPPAVRGNLALNTLHPAVSVGQATTVEIFLTLQ     71 - 140
FVLCIFATYDERRNGQLGSVALAVGFSLALGHLFGMYYTGAGMNPARSFAPAILTGNFTNHWVYWVGPII    141 - 210
GGGLGSLLYDFLLFPRLKSISERLSVLKGAKPDVSNGQPEVTGEPVELNTQAL                     211 - 263
//

Text Mined References (79)

PMID Year Title
26615967 2016 A decrease in the permeability of aquaporin zero as a possible cause for presbyopia.
25946197 2015 Identification and Functional Analysis of a Novel MIP Gene Mutation Associated with Congenital Cataract in a Chinese Family.
25803033 2015 A novel nonsense mutation in the MIP gene linked to congenital posterior polar cataracts in a Chinese family.
25033405 2014 A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataract.
24405844 2014 A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family.
24319327 2013 A novel donor splice-site mutation of major intrinsic protein gene associated with congenital cataract in a Chinese family.
24144296 2013 Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
24120416 2013 Functional characterization of an AQP0 missense mutation, R33C, that causes dominant congenital lens cataract, reveals impaired cell-to-cell adhesion.
23116563 2013 An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract.
22662182 2012 The Arg233Lys AQP0 mutation disturbs aquaporin0-calmodulin interaction causing polymorphic congenital cataract.
22036630 2011 Spatial analysis of human lens aquaporin-0 post-translational modifications by MALDI mass spectrometry tissue profiling.
21921980 2011 Major intrinsic protein (MIP) polymorphism is associated with age-related cataract in Chinese.
21850180 2011 Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP.
21647270 2011 A novel mutation in the MIP gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.
21251984 2011 Water permeability and characterization of aquaporin-11.
21245956 2011 A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family.
21232536 2011 Diabetes induces expression of aquaporin-0 in the retinal nerve fibers of spontaneously diabetic Torii rats.
21139677 2010 Identification of a MIP mutation that activates a cryptic acceptor splice site in the 3' untranslated region.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20361015 2010 A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19857466 2009 Intact AQP0 performs cell-to-cell adhesion.
19723544 2009 Establish a recombinant yeast detection system to study the effect of MIP on transactivation function of hMafF in US2-driven gene transcription.
19137077 2009 Identification of a novel splice-site mutation in MIP in a Chinese congenital cataract family.
18762715 2008 Functional characterization of human aquaporin 9 as a facilitative glycerol carrier.
18511455 2008 Novel variants in human Aquaporin-4 reduce cellular water permeability.
18501347 2008 Functional characterization of a human aquaporin 0 mutation that leads to a congenital dominant lens cataract.
18247294 2008 [A novel missense mutation in MIP gene resulted in polymorphic cataract].
18202181 2008 Mechanism of selectivity in aquaporins and aquaglyceroporins.
18004741 2008 Confocal fluorescence microscopy study of interaction between lens MIP26/AQP0 and crystallins in living cells.
17960133 2007 A substitution of arginine to lysine at the COOH-terminus of MIP caused a different binocular phenotype in a congenital cataract family.
17932686 2008 Interactions of lipids with aquaporin-0 and other membrane proteins.
17893667 2007 A novel mutation in major intrinsic protein of the lens gene (MIP) underlies autosomal dominant cataract in a Chinese family.
17178220 2007 Identification of arylsulfonamides as Aquaporin 4 inhibitors.
16596446 2005 Roles of aquaporin-3 water channels in volume-regulatory water flow in a human epithelial cell line.
16564824 2006 Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract.
16549056 2006 The novel human gene MIP functions as a co-activator of hMafF.
16541075 2006 The finished DNA sequence of human chromosome 12.
15948717 2006 Purification and functional characterization of aquaporin-8.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15274640 2004 Post-translational modifications of aquaporin 0 (AQP0) in the normal human lens: spatial and temporal occurrence.
14701836 2004 Aquaporin-1, nothing but a water channel.
12642491 2003 Joint regulation of the MAP1B promoter by HNF3beta/Foxa2 and Engrailed is the result of a highly conserved mechanism for direct interaction of homeoproteins and Fox transcription factors.
12522663 2003 Aquaporin expression in developing human teeth and selected orofacial tissues.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12107413 2002 Expressed sequence tag analysis of adult human lens for the NEIBank Project: over 2000 non-redundant transcripts, novel genes and splice variants.
12084581 2002 Cloning and identification of a new member of water channel (AQP10) as an aquaglyceroporin.
11573934 2001 Cloning of a new aquaporin (AQP10) abundantly expressed in duodenum and jejunum.
11076974 2000 The subcellular localization of an aquaporin-2 tetramer depends on the stoichiometry of phosphorylated and nonphosphorylated monomers.
11034202 2000 Structural determinants of water permeation through aquaporin-1.
11001937 2000 Functional impairment of lens aquaporin in two families with dominantly inherited cataracts.
10802646 2000 Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q.
10634618 2000 Characterization of human lens major intrinsic protein structure.
10564231 1999 Functional and molecular characterization of the human neutral solute channel aquaporin-9.
10510269 1999 Functional characterization and localization of AQP3 in the human colon.
10067969 1999 Modifications to rat lens major intrinsic protein in selenite-induced cataract.
9829975 1998 Bidirectional water fluxes and specificity for small hydrophilic molecules in aquaporins 0-5.
9806845 1998 Cloning and functional expression of human aquaporin8 cDNA and analysis of its gene.
9664032 1998 Assembly of connexins and MP26 in lens fiber plasma membranes studied by SDS-fracture immunolabeling.
9421492 1998 Overlapping Sp1 and AP2 binding sites in a promoter element of the lens-specific MIP gene.
9405233 1997 Molecular cloning and expression of a novel human aquaporin from adipose tissue with glycerol permeability.
9369468 1997 Mercury-sensitive residues and pore site in AQP3 water channel.
9268644 1997 Closely spaced tandem arrangement of AQP2, AQP5, and AQP6 genes in a 27-kilobase segment at chromosome locus 12q13.
8910261 1996 Glycation mediated crosslinking between alpha-crystallin and MP26 in intact lens membranes.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8566800 1995 Isolation and characterization of the 5'-flanking sequence of the human ocular lens MIP gene.
8529419 1995 Purification and oligomeric state of the major lens fiber cell membrane proteins.
7536742 1995 Water channel properties of major intrinsic protein of lens.
7530250 1995 Molecular cloning and characterization of an aquaporin cDNA from salivary, lacrimal, and respiratory tissues.
7525161 1995 Human AQP2 and MIP genes, two members of the MIP family, map within chromosome band 12q13 on the basis of two-color FISH.
2487274 1989 Calmodulin site at the C-terminus of the putative lens gap junction protein MIP26.
2335219 1990 Fatty acid acylation of lens fiber plasma membrane proteins. MP26 and alpha-crystallin are palmitoylated.
2176601 1990 Amino acid sequence of in vivo phosphorylation sites in the main intrinsic protein (MIP) of lens membranes.
1911643 1991 Lens protein gene expression: alpha-crystallins and MIP.
1840563 1991 Genomic cloning, complete nucleotide sequence, and structure of the human gene encoding the major intrinsic protein (MIP) of the lens.
1790714 1991 Calmodulin interacts with a C-terminus peptide from the lens membrane protein MIP26.
1510932 1992 Reconstitution of functional water channels in liposomes containing purified red cell CHIP28 protein.
1505237 1992 In situ hybridisation localises the gene for the major intrinsic protein of eye lens fibre cell membranes to human chromosome 12q14.
1373524 1992 Appearance of water channels in Xenopus oocytes expressing red cell CHIP28 protein.