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MIP Gene

protein-coding   GIFtS: 59
GCID: GC12M056843

Major Intrinsic Protein Of Lens Fiber

Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Major Intrinsic Protein Of Lens Fiber1 2     CTRCT152 5
AQP02 3 5     LIM12
Aquaporin 01 2     Lens Fiber Major Intrinsic Protein2
MIP262 3     Aquaporin-03
MP262 3     

External Ids:    HGNC: 71031   Entrez Gene: 42842   Ensembl: ENSG000001355177   OMIM: 1540505   UniProtKB: P303013   
ORGUL members:         

Export aliases for MIP gene to outside databases

Previous GC identifers: GC12P056780 GC12M057069 GC12M056561 GC12M055131 GC12M053882


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MIP Gene:
Major intrinsic protein is a member of the water-transporting aquaporins as well as the original member of the MIP
family of channel proteins. The function of the fiber cell membrane protein encoded by this gene is undetermined,
yet this protein is speculated to play a role in intracellular communication. The MIP protein is expressed in the
ocular lens and is required for correct lens function. This gene has been mapped among aquaporins AQP2, AQP5, and
AQP6, in a potential gene cluster at 12q13. (provided by RefSeq, Jul 2008)

GeneCards Summary for MIP Gene:
MIP (major intrinsic protein of lens fiber) is a protein-coding gene. Diseases associated with MIP include menieres disease, and cataract 15, multiple types. GO annotations related to this gene include structural constituent of eye lens and calmodulin binding. An important paralog of this gene is ENSG00000250424.

UniProtKB/Swiss-Prot: MIP_HUMAN, P30301
Function: Water channel. Channel activity is down-regulated by CALM when cytoplasmic Ca(2+) levels are increased.
May be responsible for regulating the osmolarity of the lens. Interactions between homotetramers from adjoining
membranes may stabilize cell junctions in the eye lens core (By similarity)

Gene Wiki entry for MIP Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the MIP gene promoter:
         Sp1   AP-2alpha isoform 3   ATF-2   AP-2alpha isoform 2   Max   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMIP promoter sequence
   Search Chromatin IP Primers for MIP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MIP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q13   Ensembl cytogenetic band:  12q13.3   HGNC cytogenetic band: 12q13

MIP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MIP gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M056843:  view genomic region     (about GC identifiers)

Start:
56,843,286 bp from pter      End:
56,862,950 bp from pter
Size:
19,665 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MIP_HUMAN, P30301 (See protein sequence)
Recommended Name: Lens fiber major intrinsic protein  
Size: 263 amino acids; 28122 Da
Subunit: Homotetramer. Homooctamer formed by head-to-head interaction between homotetramers from adjoining
membranes. Interacts with CALM; one CALM molecule interacts with the cytoplasmic domains of two aquaporins,
leading to channel closure (By similarity)
Secondary accessions: Q17R41

Explore the universe of human proteins at neXtProt for MIP: NX_P30301

Explore proteomics data for MIP at MOPED

Post-translational modifications: 

  • Subject to partial proteolytic cleavage in the eye lens core. Partial proteolysis promotes interactions between
    tetramers from adjoining membranes (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MIP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036196.1  
    ENSEMBL proteins: 
     ENSP00000257979  
    Reactome Protein details: P30301

    MIP Human Recombinant Protein Products:

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    MIP Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    AQP: Ion channels / Aquaporins

    IUPHAR Guide to PHARMACOLOGY protein family classification: AQP0
    Aquaporins

    3 InterPro protein domains:
     IPR023271 Aquaporin-like
     IPR000425 MIP
     IPR022357 MIP_CS

    Graphical View of Domain Structure for InterPro Entry P30301

    ProtoNet protein and cluster: P30301

    1 Blocks protein domain: IPB000425 MIP family

    UniProtKB/Swiss-Prot: MIP_HUMAN, P30301
    Domain: Aquaporins contain two tandem repeats each containing two membrane-spanning helices and a pore-forming
    loop with the signature motif Asn-Pro-Ala (NPA). Each tandem repeat contains a loop and a short helix that enter
    and leave the lipid bilayer on the same side (By similarity)
    Similarity: Belongs to the MIP/aquaporin (TC 1.A.8) family


    MIP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MIP_HUMAN, P30301
    Function: Water channel. Channel activity is down-regulated by CALM when cytoplasmic Ca(2+) levels are increased.
    May be responsible for regulating the osmolarity of the lens. Interactions between homotetramers from adjoining
    membranes may stabilize cell junctions in the eye lens core (By similarity)

         Genatlas biochemistry entry for MIP:
    major intrinsic protein of lens fiber,1 (MP26),with water channel properties

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005212structural constituent of eye lens IEA--
    GO:0005215transporter activity TAS1840563
    GO:0005515protein binding ----
    GO:0005516calmodulin binding ISS--
    GO:0015250water channel activity ISS--
         
    MIP for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MIP:
     Increased gamma-H2AX phosphory 

         1 MGI mutant phenotype (inferred from 6 alleles(MGI details for Mip):
     vision/eye 

    MIP for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MIP
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MIP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MIP
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MIP

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate MIP (see all 33):
    hsa-miR-2052 hsa-miR-642a hsa-miR-1245 hsa-miR-488 hsa-miR-507 hsa-miR-4267 hsa-miR-4330 hsa-miR-186
    SwitchGear 3'UTR luciferase reporter plasmidMIP 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MIP

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MIP

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MIP_HUMAN, P30301: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus2
    cytoskeleton1
    endoplasmic reticulum1
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane ISS--
    GO:0005921gap junction IEA--
    GO:0016020membrane ----
    GO:0043231intracellular membrane-bounded organelle IEA--

    MIP for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MIP About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Regulation of Water Balance by Renal Aquaporins
    Aquaporin-mediated transport0.85
    Passive Transport by Aquaporins0.00
    2Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for MIP
        Passive transport by Aquaporins



    MIP for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MIP
    Interactions:

        GeneGlobe Interaction Network for MIP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for MIP (P303013 ENSP000002579794) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583, ENSP000003494674I2D: score=2 STRING: ENSP00000349467
    CALM2P621583I2D: score=2 
    CALM3P621583I2D: score=2 
    CRYAAP024893, ENSP000002915544I2D: score=1 STRING: ENSP00000291554
    GJA3Q9Y6H83, ENSP000002411254I2D: score=1 STRING: ENSP00000241125
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002088lens development in camera-type eye IEA--
    GO:0006810transport ----
    GO:0006833water transport TAS--
    GO:0007601visual perception IEA--
    GO:0015722canalicular bile acid transport IEA--

    MIP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MIP

    1 IUPHAR Ligand for MIP (AQP0)    About this table
    LigandTypeActionAffinityPubmed IDs
    Hg2+
    InhibitorNone--

    Selected Novoseek inferred chemical compound relationships for MIP gene (see all 47)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycerol 76.8 77 9430617 (4), 10066730 (4), 14646142 (3), 19273130 (2) (see all 45)
    hgcl2 63.2 8 18565621 (2), 11351098 (1), 19513079 (1), 14739264 (1) (see all 6)
    pcmbs 56.8 5 10684866 (1), 11297562 (1), 19484468 (1), 8584435 (1)
    mp 26 55.6 2 1840563 (1), 1911643 (1)
    cp-49 52.8 3 16565393 (2), 15593327 (1)
    mercury chloride 50.5 1 19772916 (1)
    urea 45.7 18 20149227 (2), 8810261 (2), 19096786 (2), 18444909 (1) (see all 9)
    arsenite 32 5 19442679 (1), 19096773 (1), 18626020 (1), 19350206 (1) (see all 5)
    abscisic acid 31.9 2 20047666 (1), 18266903 (1)
    mercury 30.4 14 16926168 (3), 8624437 (3), 12435590 (1), 17376483 (1) (see all 6)



    MIP for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MIP gene: 
    NM_012064.3  

    Unigene Cluster for MIP:

    Major intrinsic protein of lens fiber
    Hs.574026  [show with all ESTs]
    Unigene Representative Sequence: NM_012064
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000257979(uc001slh.3) ENST00000555551
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate MIP (see all 33):
    hsa-miR-2052 hsa-miR-642a hsa-miR-1245 hsa-miR-488 hsa-miR-507 hsa-miR-4267 hsa-miR-4330 hsa-miR-186
    SwitchGear 3'UTR luciferase reporter plasmidMIP 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat MIP
      QuantiFast Probe-based Assays in human, mouse, rat MIP

    Additional mRNA sequence: 

    AK307357.1 BC074913.2 BC117474.1 

    2 DOTS entries:

    DT.97842105  DT.97822611 

    Selected AceView cDNA sequences (see all 31):

    BM699762 BF727058 BM706175 BM931729 BF727203 BM931718 BC074913 NM_012064 
    BF727073 CD675949 BM680375 AV702421 BM700190 BU738134 CD675761 BF727057 
    BM696300 BM670318 BM705396 BM716579 BU735357 BM705682 BM544430 BM720012 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MIP expression in normal human tissues (normalized intensities)      MIP embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MIP Expression
    About this image


    MIP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Primary Lens Fiber Cells Lens
             lens   
     
     Epithelial Cells
             Primary Lens Fiber Cells Lens
    MIP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MIP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.574026

    UniProtKB/Swiss-Prot: MIP_HUMAN, P30301
    Tissue specificity: Major component of lens fiber gap junctions

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MIP gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mip1 , 5 major intrinsic protein of eye lens fiber1, 5 89.1(n)1
    93.16(a)1
      10 (76.49 cM)5
    173391  NM_008600.41  NP_032626.21 
     1282258385 
    lizard
    (Anolis carolinensis)
    Reptilia MIP6
    major intrinsic protein of lens fiber
    74(a)
    1 ↔ 1
    2(93204104-93212593)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mip1 major intrinsic protein of lens fiber 70.85(n)
    76.81(a)
      100037914  NM_001097347.1  NP_001090816.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mipa1 major intrinsic protein of lens fiber a 67.68(n)
    70.34(a)
      445140  NM_001003534.1  NP_001003534.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons TIP21 TIP2 51.2(n)
    44.5(a)
      822259  NM_113559.3  NP_189283.1 
    corn
    (Zea mays)
    Liliopsida CD433002.12   -- 71.78(n)    CD433002.1 


    ENSEMBL Gene Tree for MIP (if available)
    TreeFam Gene Tree for MIP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MIP gene
    ENSG000002504242  AQP82  AQP22  AQP52  AQP12  AQP42  AQP62  
    7 SIMAP similar genes for MIP using alignment to 1 protein entry:     MIP_HUMAN:
    AQP5    AQP6    AQP2    AQP1    DKFZp434D2030    AQP4
    AQP8

    MIP for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MIP (see all 179)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0114974
    Cataract 15, multiple types (CTRCT15)4--see VAR_0114972 E G mis40--------
    VAR_0114984
    Cataract 15, multiple types (CTRCT15)4--see VAR_0114982 T R mis40--------
    rs1219178671,2
    Cpathogenic156681633(-) CCTGAC/G/TGCTCC 2 T R mis10--------
    rs1219178691,2
    Cpathogenic156681645(-) AGTGGA/GGATCT 2 E G mis10--------
    rs724789241,2
    C,F--56676939(-) AAAGTG/ACCTGA 1 -- ds50016Minor allele frequency- A:0.01NS EA 274
    rs79586091,2
    C,F,A,H--56677028(+) TAGGGC/ATAAGC 1 -- ds50019Minor allele frequency- A:0.01NS EA WA 562
    rs1883082601,2
    --56677054(+) CCCGGC/GAACGC 1 -- ds50010--------
    rs1912657501,2
    --56677116(+) CACGAA/GCCCCG 1 -- ds50010--------
    rs1463249401,2
    --56677190(+) GCTTCA/GAAAGG 1 -- ds50010--------
    rs724789231,2
    C,F--56677293(-) CGGCCC/TCGCGC 1 -- ds50015Minor allele frequency- T:0.01NS 168

    HapMap Linkage Disequilibrium report for MIP (56843286 - 56862950 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MIP:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv482992CNV Complex15286789

    Human Gene Mutation Database (HGMD): MIP
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MIP
    DNA2.0 Custom Variant and Variant Library Synthesis for MIP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 154050   
    OMIM disorders: 615274  
    UniProtKB/Swiss-Prot: MIP_HUMAN, P30301
  • Cataract 15, multiple types (CTRCT15) [MIM:615274]: An opacification of the crystalline lens of the eye
    that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a
    portion of the lens, and may be static or progressive. CTRCT15 includes polymorphic, progressive punctate
    lamellar, cortical, anterior and posterior polar, nonprogressive lamellar with sutural opacities, embryonic
    nuclear, and pulverulent cortical, among others. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for MIP (see all 52):    About MalaCards
    menieres disease    cataract 15, multiple types    cataract, polymorphic and lamellar    endolymphatic hydrops
    arachnoid cysts    meniere's disease    cataract 23    arachnoiditis
    cataract 10, multiple types    legionellosis    corneal edema    nephrogenic diabetes insipidus
    cataract 20, multiple types    brain edema    diabetes insipidus    cerulean cataract
    cataract 4, multiple types    diabetic cataract    traumatic brain injury    cataracts, autosomal dominant

    2 diseases from the University of Copenhagen DISEASES database for MIP:
    Senile cataract     Diabetic cataract

    MIP for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for MIP gene (see all 44)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    water balance disorders 92.7 11 11320486 (2), 9818197 (1), 20142913 (1), 17222168 (1) (see all 10)
    diabetes insipidus nephrogenic 82.8 4 19448080 (1), 8717630 (1)
    brain edema 67.5 16 16313100 (3), 16181079 (2), 15120208 (2), 11115728 (1) (see all 12)
    congenital cataract 48.7 2 20361015 (2)
    cerebral edema 43.5 4 14753494 (2), 20168229 (1), 17618977 (1)
    cataract 40.1 23 11090476 (2), 19023964 (2), 11001937 (2), 19448080 (1) (see all 14)
    edema 39.9 12 19566827 (2), 10652478 (1), 15561416 (1), 11243009 (1) (see all 11)
    water intoxication 37.5 1 15120208 (1)
    endolymphatic hydrops 36 1 15377953 (1)
    aqueous humor 33.4 5 9497312 (1), 10694901 (1), 10873606 (1), 9733591 (1) (see all 5)

    Genetic Association Database (GAD): MIP
    Human Genome Epidemiology (HuGE) Navigator: MIP (21 documents)

    Export disorders for MIP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MIP gene, integrated from 10 sources (see all 411):
    (articles sorted by number of sources associating them with MIP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic cloning, complete nucleotide sequence, and structure of the human gene encoding the major intrinsic protein (MIP) of the lens. (PubMed id 1840563)1, 2, 3, 9 Pisano M.M. and Chepelinsky A.B. (Genomics 1991)
    2. Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q. (PubMed id 10802646)1, 2, 9 Berry V.... Bhattacharya S. (Nat. Genet. 2000)
    3. Functional impairment of lens aquaporin in two families with dominantly inherited cataracts. (PubMed id 11001937)1, 2, 9 Francis P.... Agre P. (Hum. Mol. Genet. 2000)
    4. Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract. (PubMed id 16564824)1, 2, 9 Geyer D.D....Bateman J.B. (Am. J. Ophthalmol. 2006)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Characterization of human lens major intrinsic protein structure. (PubMed id 10634618)1, 2 Schey K.L.... Crouch R.K. (Invest. Ophthalmol. Vis. Sci. 2000)
    8. Water channel properties of major intrinsic protein of lens. (PubMed id 7536742)1, 3 Mulders S.M....Agre P. (J. Biol. Chem. 1995)
    9. Intact AQP0 performs cell-to-cell adhesion. (PubMed id 19857466)1, 9 Kumari S.S. and Varadaraj K. (Biochem. Biophys. Res. Commun. 2009)
    10. Interactions of lipids with aquaporin-0 and other membrane proteins. (PubMed id 17932686)1, 9 Hite R.K....Walz T. (Pflugers Arch. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4284 HGNC: 7103 AceView: MIP Ensembl:ENSG00000135517 euGenes: HUgn4284
    ECgene: MIP H-InvDB: MIP

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MIP Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for MIP gene:
    Search GeneIP for patents involving MIP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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