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Aliases for MIP Gene

Aliases for MIP Gene

  • Major Intrinsic Protein Of Lens Fiber 2 3 5
  • Aquaporin 0 2 3
  • MIP26 3 4
  • AQP0 3 4
  • MP26 3 4
  • Lens Fiber Major Intrinsic Protein 3
  • Aquaporin-0 4
  • CTRCT15 3
  • LIM1 3

External Ids for MIP Gene

Previous GeneCards Identifiers for MIP Gene

  • GC12P056780
  • GC12M057069
  • GC12M056561
  • GC12M055131
  • GC12M056843
  • GC12M053882

Summaries for MIP Gene

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 Cataract 15, Multiple Types and Cataract 25. Among its related pathways are Aquaporin-mediated transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include transporter activity and structural constituent of eye lens. An important paralog of this gene is AQP2.

UniProtKB/Swiss-Prot for MIP Gene

  • Water channel (PubMed:24120416). 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). Plays a role in cell-to-cell adhesion and facilitates gap junction coupling (PubMed:24120416).

Gene Wiki entry for MIP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MIP Gene

Genomics for MIP Gene

Regulatory Elements for MIP Gene

Enhancers for MIP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F055498 0.8 ENCODE 4.6 +969.6 969558 2.5 ELF3 ATF1 ARID4B RARA GATA4 CREM ZNF680 MIER2 PPARG PBX2 OR6C70 MIP ENSG00000257303 OR6C68 GC12M055509
GH12F056470 0.2 Ensembl 0.8 -1.7 -1735 0.2 ZNF280D CBX1 CBX3 CBX5 TRIM28 MIP GLS2
GH12F056467 0.9 ENCODE 0.8 +0.2 224 2.6 ARNT CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 NEMP1 SPRYD4 RPL41 RBMS2 LOC100131294 BAZ2A RNU6-343P CDK2 RN7SL809P ESYT1
GH12F056477 0.4 ENCODE 0.4 -7.9 -7946 0.1 TFAP4 SAP130 ARID4B CEBPG YY1 POLR2A HNF4G FOXA3 NFYC CEBPB MIP GLS2
GH12F056483 0.8 FANTOM5 0.4 -14.5 -14532 0.0 SOX13 LEF1 CEBPG RAD21 YY1 ZNF316 TRIM24 MAFK MIXL1 GATAD2A GLS2 MIP
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MIP on UCSC Golden Path with GeneCards custom track

Promoters for MIP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001463836 666 1401 ARNT CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143

Genomic Location for MIP Gene

Chromosome:
12
Start:
56,449,502 bp from pter
End:
56,469,166 bp from pter
Size:
19,665 bases
Orientation:
Minus strand

Genomic View for MIP Gene

Genes around MIP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MIP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MIP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MIP Gene

Proteins for MIP Gene

  • Protein details for MIP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P30301-MIP_HUMAN
    Recommended name:
    Lens fiber major intrinsic protein
    Protein Accession:
    P30301
    Secondary Accessions:
    • Q17R41

    Protein attributes for MIP Gene

    Size:
    263 amino acids
    Molecular mass:
    28122 Da
    Quaternary structure:
    • Homotetramer (PubMed:24120416). 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).

neXtProt entry for MIP Gene

Post-translational modifications for MIP Gene

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

Other Protein References for MIP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MIP Gene

Domains & Families for MIP Gene

Gene Families for MIP Gene

HGNC:
IUPHAR :

Protein Domains for MIP Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MIP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P30301

UniProtKB/Swiss-Prot:

MIP_HUMAN :
  • 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).
  • Belongs to the MIP/aquaporin (TC 1.A.8) family.
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).
Family:
  • Belongs to the MIP/aquaporin (TC 1.A.8) family.
genes like me logo Genes that share domains with MIP: view

Function for MIP Gene

Molecular function for MIP Gene

GENATLAS Biochemistry:
major intrinsic protein of lens fiber,1 (MP26),with water channel properties
UniProtKB/Swiss-Prot Function:
Water channel (PubMed:24120416). 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). Plays a role in cell-to-cell adhesion and facilitates gap junction coupling (PubMed:24120416).

Gene Ontology (GO) - Molecular Function for MIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005212 structural constituent of eye lens IEA --
GO:0005215 transporter activity TAS 1840563
GO:0005243 gap junction channel activity IDA 24120416
GO:0005516 calmodulin binding ISS --
GO:0015250 water channel activity EXP,ISS --
genes like me logo Genes that share ontologies with MIP: view
genes like me logo Genes that share phenotypes with MIP: view

Human Phenotype Ontology for MIP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for MIP

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MIP Gene

Localization for MIP Gene

Subcellular locations from UniProtKB/Swiss-Prot for MIP Gene

Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MIP Gene COMPARTMENTS Subcellular localization image for MIP gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 5
cytoskeleton 1
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for MIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 24120416
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane ISS,TAS --
GO:0005921 gap junction IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MIP: view

Pathways & Interactions for MIP Gene

genes like me logo Genes that share pathways with MIP: view

Pathways by source for MIP Gene

Gene Ontology (GO) - Biological Process for MIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002088 lens development in camera-type eye IEA --
GO:0006810 transport IEA --
GO:0006833 water transport TAS --
GO:0007601 visual perception IEA --
GO:0009992 cellular water homeostasis IBA --
genes like me logo Genes that share ontologies with MIP: view

No data available for SIGNOR curated interactions for MIP Gene

Drugs & Compounds for MIP Gene

(24) Drugs for MIP Gene - From: ClinicalTrials, DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hg<sup>2+</sup> Pharma Inhibitor 0
Respiratory System Agents Pharma 4818

(25) Additional Compounds for MIP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MIP: view

Transcripts for MIP Gene

mRNA/cDNA for MIP Gene

Unigene Clusters for MIP Gene

Major intrinsic protein of lens fiber:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MIP Gene

No ASD Table

Relevant External Links for MIP Gene

GeneLoc Exon Structure for
MIP
ECgene alternative splicing isoforms for
MIP

Expression for MIP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MIP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MIP Gene

This gene is overexpressed in Testis (x10.6) and Liver (x7.6).

NURSA nuclear receptor signaling pathways regulating expression of MIP Gene:

MIP

SOURCE GeneReport for Unigene cluster for MIP Gene:

Hs.574026

mRNA Expression by UniProt/SwissProt for MIP Gene:

P30301-MIP_HUMAN
Tissue specificity: Major component of lens fiber gap junctions.
genes like me logo Genes that share expression patterns with MIP: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for MIP Gene

Orthologs for MIP Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MIP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MIP 34 35
  • 99.87 (n)
cow
(Bos Taurus)
Mammalia MIP 34 35
  • 91.25 (n)
dog
(Canis familiaris)
Mammalia MIP 34 35
  • 90.87 (n)
rat
(Rattus norvegicus)
Mammalia Mip 34
  • 89.86 (n)
mouse
(Mus musculus)
Mammalia Mip 34 16 35
  • 89.1 (n)
oppossum
(Monodelphis domestica)
Mammalia MIP 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MIP 35
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MIP 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mip 34
  • 70.85 (n)
zebrafish
(Danio rerio)
Actinopterygii mipa 35 34
  • 67.68 (n)
OneToMany
mipb 35
  • 66 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7777 36
  • 38 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons TIP2 34
  • 51.2 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7386 34
Species where no ortholog for MIP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MIP Gene

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

Paralogs for MIP Gene

Paralogs for MIP Gene

(7) SIMAP similar genes for MIP Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MIP: view

Variants for MIP Gene

Sequence variations from dbSNP and Humsavar for MIP Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs121917867 Pathogenic, Cataract 15, multiple types (CTRCT15) [MIM:615274] 56,453,703(-) CCTGA(C/G/T)GCTCC reference, missense
rs121917869 Pathogenic, Cataract 15, multiple types (CTRCT15) [MIM:615274] 56,453,715(-) AGTGG(A/G)GATCT reference, missense
rs267603585 Cataract 15, multiple types (CTRCT15) [MIM:615274] 56,453,119(+) GGAGC(A/G)GGCAG reference, missense
rs74641138 Benign, Cataract 15, multiple types (CTRCT15) [MIM:615274] 56,454,295(+) GGTAA(C/T)GCTAT intron-variant, upstream-variant-2KB, reference, missense
rs864309693 Cataract 15, multiple types (CTRCT15) [MIM:615274], Pathogenic 56,454,517(-) CACTG(C/T)GCTGG intron-variant, upstream-variant-2KB, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MIP Gene

Variant ID Type Subtype PubMed ID
nsv1052713 CNV gain 25217958
nsv482992 CNV gain+loss 15286789

Variation tolerance for MIP Gene

Residual Variation Intolerance Score: 41% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.15; 51.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MIP Gene

Human Gene Mutation Database (HGMD)
MIP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MIP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MIP Gene

Disorders for MIP Gene

MalaCards: The human disease database

(20) MalaCards diseases for MIP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cataract 15, multiple types
  • cataract 15 multiple types
cataract 25
  • ccsso
cerulean cataract
  • cca1
early-onset nuclear cataract
cataract 44
  • ctrct44
- elite association - COSMIC cancer census association via MalaCards
Search MIP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MIP_HUMAN
  • 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. {ECO:0000269 PubMed:10802646, ECO:0000269 PubMed:11001937, ECO:0000269 PubMed:16564824, ECO:0000269 PubMed:17893667, ECO:0000269 PubMed:17960133, ECO:0000269 PubMed:20361015, ECO:0000269 PubMed:21245956, ECO:0000269 PubMed:23116563, ECO:0000269 PubMed:24120416, ECO:0000269 PubMed:25946197}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MIP

Genetic Association Database (GAD)
MIP
Human Genome Epidemiology (HuGE) Navigator
MIP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MIP
genes like me logo Genes that share disorders with MIP: view

No data available for Genatlas for MIP Gene

Publications for MIP Gene

  1. Genomic cloning, complete nucleotide sequence, and structure of the human gene encoding the major intrinsic protein (MIP) of the lens. (PMID: 1840563) Pisano M.M. … Chepelinsky A.B. (Genomics 1991) 2 3 4 22 64
  2. A novel mutation in major intrinsic protein of the lens gene (MIP) underlies autosomal dominant cataract in a Chinese family. (PMID: 17893667) Gu F. … Ma X. (Mol. Vis. 2007) 3 4 22 64
  3. Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q. (PMID: 10802646) Berry V. … Bhattacharya S. (Nat. Genet. 2000) 3 4 22 64
  4. Identification and functional analysis of a novel MIP gene mutation associated with congenital cataract in a Chinese family. (PMID: 25946197) Shentu X. … Zhao Y. (PLoS ONE 2015) 3 4 64
  5. An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract. (PMID: 23116563) Senthil Kumar G. … Santhiya S.T. (Exp. Eye Res. 2013) 3 4 64

Products for MIP Gene

Sources for MIP Gene

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