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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. Gene Ontology (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

Additional gene information for MIP Gene

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

Genomics for MIP Gene

GeneHancer (GH) Regulatory Elements for MIP Gene

Promoters and enhancers for MIP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I056467 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.2 224 2.6 CLOCK SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 IRF4 YY1 SLC30A9 SPRYD4 MIP NEMP1 BAZ2A PYM1 RN7SL809P DNAJC14 STAT2
GH12I056454 Promoter 0.5 EPDnew 550.4 +14.5 14489 0.1 MIP GLS2 RBMS2 SMARCC2 TIMELESS SPRYD4
GH12I056470 Enhancer 0.3 Ensembl 550.8 -1.7 -1735 0.2 POLR2A MIP SPRYD4 GLS2
GH12I055498 Enhancer 0.8 ENCODE 4.6 +969.6 969558 2.5 ELF3 FOXA2 ARID4B RARA ETS1 TCF12 CREM ZNF680 MIER2 PPARG OR6C70 MIP ENSG00000257303 OR6C68 GC12M055509 ENSG00000258763
GH12I056464 Enhancer 1.1 Ensembl ENCODE 0.8 +4.7 4666 0.6 ATF1 FOXA2 ARNT ARID4B ZNF2 BRCA1 ZNF48 ARID2 ZNF143 ATF7 RBMS2 SPRYD4 MIP TIMELESS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MIP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MIP gene promoter:

Genomic Locations for MIP Gene

Genomic Locations for MIP Gene
chr12:56,449,502-56,469,166
(GRCh38/hg38)
Size:
19,665 bases
Orientation:
Minus strand
chr12:56,843,286-56,862,950
(GRCh37/hg19)

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

  • Fatty acylated at Met-1 and Lys-238. The acyl modifications, in decreasing order of ion abundance, are: oleoyl (C18:1) > palmitoyl (C16:0) > stearoyl (C18:0) > eicosenoyl (C20:1) > dihomo-gamma-linolenoyl (C20:3) > palmitoleoyl (C16:1) > eicosadienoyl (C20:2).
  • Subject to partial proteolytic cleavage in the eye lens core. Partial proteolysis promotes interactions between tetramers from adjoining membranes (By similarity).

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 :
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for MIP Gene

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).

Phenotypes From GWAS Catalog for MIP Gene

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:0005516 calmodulin binding ISS --
GO:0015250 water channel activity IEA,ISS --
GO:0015267 channel activity IEA --
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

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MIP gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
extracellular 1
cytoskeleton 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MIP Gene

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,IEA --
GO:0007601 visual perception IEA --
GO:0034220 ion transmembrane transport 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

(25) 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 5297

(24) 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:

Clone 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 CGAP 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.

Evidence on tissue expression from TISSUES for MIP Gene

  • Eye(3.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MIP Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with MIP: view

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 33 34
  • 99.87 (n)
cow
(Bos Taurus)
Mammalia MIP 33 34
  • 91.25 (n)
dog
(Canis familiaris)
Mammalia MIP 33 34
  • 90.87 (n)
rat
(Rattus norvegicus)
Mammalia Mip 33
  • 89.86 (n)
mouse
(Mus musculus)
Mammalia Mip 33 16 34
  • 89.1 (n)
oppossum
(Monodelphis domestica)
Mammalia MIP 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MIP 34
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MIP 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mip 33
  • 70.85 (n)
zebrafish
(Danio rerio)
Actinopterygii mipa 33 34
  • 67.68 (n)
mipb 34
  • 66 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7777 35
  • 38 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons TIP2 33
  • 51.2 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7386 33
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 Variation AA Info Type
rs1057519616 pathogenic, Cataract 15, multiple types 56,453,608(-) GGG/GGGG coding_sequence_variant, frameshift
rs111463603 benign, uncertain-significance, Cataract 56,450,042(-) AAAAAAAAAAA/AAAAAAAAAAAA/AAAAAAAAAAAAA 3_prime_UTR_variant
rs117788190 likely-benign, Cataract 56,454,617(-) A/G 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs121917867 pathogenic, Cataract 15, multiple types, Cataract 15, multiple types (CTRCT15) [MIM:615274] 56,453,703(-) G/A/C coding_sequence_variant, missense_variant
rs121917869 pathogenic, likely-pathogenic, Cataract 15, multiple types, not provided, Cataract 15, multiple types (CTRCT15) [MIM:615274] 56,453,715(-) T/C/G coding_sequence_variant, missense_variant

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)

Additional Variant Information 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

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

- 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.

Additional Disease Information for MIP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 MM … Chepelinsky AB (Genomics 1991) 2 3 4 22 58
  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 (Molecular vision 2007) 3 4 22 58
  3. Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q. (PMID: 10802646) Berry V … Bhattacharya S (Nature genetics 2000) 3 4 22 58
  4. The lipidation profile of aquaporin-0 correlates with the acyl composition of phosphoethanolamine lipids in lens membranes. (PMID: 27378310) Ismail VS … Sanderson JM (Biochimica et biophysica acta 2016) 3 4 58
  5. 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 58

Products for MIP Gene

Sources for MIP Gene

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