Property Summary

NCBI Gene PubMed Count 78
Grant Count 120
R01 Count 98
Funding $14,003,251.48
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 0.005
psoriasis 1.500 0.000

Synonym

Accession P30301 Q17R41
Symbols AQP0
LIM1
MP26
MIP26
CTRCT15

Gene

MIP

PANTHER Protein Class (1)

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.
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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.
More...