Details for: MIP

Gene ID: 4284

Symbol: MIP

Ensembl ID: ENSG00000135517

Description: major intrinsic protein of lens fiber

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 3.6826
    Cell Significance Index: 225.7800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.7538
    Cell Significance Index: 38.0000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.3783
    Cell Significance Index: 44.1500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.9730
    Cell Significance Index: 185.1600
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 0.8175
    Cell Significance Index: 11.9200
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.7990
    Cell Significance Index: 25.2700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.7243
    Cell Significance Index: 71.6500
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.6647
    Cell Significance Index: 16.1000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5983
    Cell Significance Index: 540.2000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.4317
    Cell Significance Index: 9.2000
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.4222
    Cell Significance Index: 5.9300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3815
    Cell Significance Index: 62.0500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3666
    Cell Significance Index: 39.8800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2032
    Cell Significance Index: 14.0600
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.2020
    Cell Significance Index: 2.6100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1984
    Cell Significance Index: 11.9100
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.1639
    Cell Significance Index: 2.6000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.1180
    Cell Significance Index: 1.6100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.1023
    Cell Significance Index: 2.7400
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.0817
    Cell Significance Index: 0.9300
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.0782
    Cell Significance Index: 1.1200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0729
    Cell Significance Index: 1.2500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0632
    Cell Significance Index: 1.3100
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.0522
    Cell Significance Index: 0.7700
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.0479
    Cell Significance Index: 1.2000
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0333
    Cell Significance Index: 0.7300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0285
    Cell Significance Index: 0.8200
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.0285
    Cell Significance Index: 0.4800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0265
    Cell Significance Index: 1.2000
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.0222
    Cell Significance Index: 0.2900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0218
    Cell Significance Index: 29.7000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.0203
    Cell Significance Index: 5.8300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0149
    Cell Significance Index: 2.9500
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.0112
    Cell Significance Index: 0.1600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0102
    Cell Significance Index: 0.3600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0098
    Cell Significance Index: 3.5300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0049
    Cell Significance Index: 0.9800
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.0040
    Cell Significance Index: 0.0500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0040
    Cell Significance Index: 6.1400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0036
    Cell Significance Index: 0.6400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0024
    Cell Significance Index: 0.1500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0020
    Cell Significance Index: 3.7400
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.0007
    Cell Significance Index: 0.0100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0002
    Cell Significance Index: 0.1300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0008
    Cell Significance Index: -0.1000
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0008
    Cell Significance Index: -0.0400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0014
    Cell Significance Index: -1.0400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0015
    Cell Significance Index: -1.1200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0018
    Cell Significance Index: -0.2100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0020
    Cell Significance Index: -1.1400
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.0029
    Cell Significance Index: -0.0400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0039
    Cell Significance Index: -0.6700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0049
    Cell Significance Index: -0.6700
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.0051
    Cell Significance Index: -0.0600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0054
    Cell Significance Index: -1.1400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0057
    Cell Significance Index: -0.5800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0068
    Cell Significance Index: -0.5200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0082
    Cell Significance Index: -0.3100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0086
    Cell Significance Index: -1.0200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0091
    Cell Significance Index: -1.0400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0094
    Cell Significance Index: -1.2200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0100
    Cell Significance Index: -0.5600
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.0104
    Cell Significance Index: -0.1400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0111
    Cell Significance Index: -0.4900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0112
    Cell Significance Index: -0.5200
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: -0.0125
    Cell Significance Index: -0.1600
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0131
    Cell Significance Index: -0.2200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0138
    Cell Significance Index: -0.7200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0139
    Cell Significance Index: -0.3900
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.0150
    Cell Significance Index: -0.1900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0153
    Cell Significance Index: -1.0300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0163
    Cell Significance Index: -1.0000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0166
    Cell Significance Index: -0.8700
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0173
    Cell Significance Index: -0.5100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0176
    Cell Significance Index: -1.3100
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0191
    Cell Significance Index: -0.7000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0194
    Cell Significance Index: -0.6800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0201
    Cell Significance Index: -0.6400
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.0201
    Cell Significance Index: -0.4100
  • Cell Name: acinar cell (CL0000622)
    Fold Change: -0.0215
    Cell Significance Index: -0.2700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0228
    Cell Significance Index: -0.6100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0232
    Cell Significance Index: -0.7600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0237
    Cell Significance Index: -0.6100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0249
    Cell Significance Index: -1.1700
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.0256
    Cell Significance Index: -0.3600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0256
    Cell Significance Index: -0.5000
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0264
    Cell Significance Index: -0.6600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0265
    Cell Significance Index: -0.7200
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0269
    Cell Significance Index: -0.6700
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0273
    Cell Significance Index: -1.1200
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.0274
    Cell Significance Index: -0.3700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0308
    Cell Significance Index: -0.8100
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0309
    Cell Significance Index: -0.6200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0311
    Cell Significance Index: -0.6600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0312
    Cell Significance Index: -1.5800
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0315
    Cell Significance Index: -0.6800
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.0321
    Cell Significance Index: -0.6700
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.0326
    Cell Significance Index: -0.3800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0337
    Cell Significance Index: -1.1700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** MIP is a 40-kDa transmembrane protein that is composed of six transmembrane helices and two intracellular loops. It is highly expressed in lens fiber cells, with expression levels decreasing in other lens cells. MIP is a homotetramer, consisting of four identical subunits, which allows it to form a stable and functional aquaporin channel. Its structure and function are crucial for maintaining lens fiber cell-cell adhesion and integrity. **Pathways and Functions:** MIP is involved in several key pathways that contribute to its functions in the lens: 1. **Aquaporin-mediated transport:** MIP facilitates the transport of water and small molecules across the lens fiber cell membrane, contributing to lens homeostasis and refractive function. 2. **Gap junction-mediated intercellular transport:** MIP forms gap junctions with other lens fiber cells, allowing for the exchange of ions, metabolites, and signaling molecules. 3. **Protein binding and homotetramerization:** MIP interacts with other proteins, such as calmodulin, and homotetramerizes with other MIP subunits to form a stable and functional aquaporin channel. 4. **Cell adhesion and signaling:** MIP plays a role in maintaining lens fiber cell-cell adhesion and modulating signaling pathways that regulate lens development and homeostasis. **Clinical Significance:** Dysregulation of MIP expression or function has been implicated in various ocular disorders, including: 1. **Cataracts:** Abnormal MIP expression or function has been linked to the development of cataracts, a leading cause of blindness worldwide. 2. **Age-related macular degeneration (AMD):** MIP has been shown to play a role in the pathogenesis of AMD, a leading cause of vision loss in older adults. 3. **Glaucoma:** MIP has been implicated in the development of glaucoma, a group of eye conditions that can lead to vision loss and blindness. In conclusion, MIP is a critical protein component of the lens that plays a vital role in maintaining lens homeostasis, transparency, and refractive function. Its dysregulation has been implicated in various ocular disorders, highlighting the importance of further research into the molecular mechanisms underlying lens function and disease.

Genular Protein ID: 2909309573

Symbol: MIP_HUMAN

Name: Lens fiber major intrinsic protein

UniProtKB Accession Codes:

P30301 Q17R41

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EMBL 4 Ensembl 1 GO 13 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 NCBI Taxonomy 1 NCBIfam 1 OGP 1 OMA 1 OpenTargets 1 Orphanet 6 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 Reactome 1 RefSeq 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 1840563

Title: Genomic cloning, complete nucleotide sequence, and structure of the human gene encoding the major intrinsic protein (MIP) of the lens.

PubMed ID: 1840563

DOI: 10.1016/0888-7543(91)90023-8

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10634618

Title: Characterization of human lens major intrinsic protein structure.

PubMed ID: 10634618

PubMed ID: 10802646

Title: Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q.

PubMed ID: 10802646

DOI: 10.1038/75538

PubMed ID: 16564824

Title: Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract.

PubMed ID: 16564824

DOI: 10.1016/j.ajo.2005.11.008

PubMed ID: 27378310

Title: The lipidation profile of aquaporin-0 correlates with the acyl composition of phosphoethanolamine lipids in lens membranes.

PubMed ID: 27378310

DOI: 10.1016/j.bbamem.2016.06.026

PubMed ID: 30790544

Title: BFSP1 C-terminal domains released by post-translational processing events can alter significantly the calcium regulation of AQP0 water permeability.

PubMed ID: 30790544

DOI: 10.1016/j.exer.2019.02.001

PubMed ID: 11001937

Title: Functional impairment of lens aquaporin in two families with dominantly inherited cataracts.

PubMed ID: 11001937

DOI: 10.1093/oxfordjournals.hmg.a018925

PubMed ID: 17893667

Title: A novel mutation in major intrinsic protein of the lens gene (MIP) underlies autosomal dominant cataract in a Chinese family.

PubMed ID: 17893667

PubMed ID: 17960133

Title: A substitution of arginine to lysine at the COOH-terminus of MIP caused a different binocular phenotype in a congenital cataract family.

PubMed ID: 17960133

PubMed ID: 20361015

Title: A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family.

PubMed ID: 20361015

PubMed ID: 21245956

Title: A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family.

PubMed ID: 21245956

PubMed ID: 23116563

Title: An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract.

PubMed ID: 23116563

DOI: 10.1016/j.exer.2012.10.010

PubMed ID: 24120416

Title: Functional characterization of an AQP0 missense mutation, R33C, that causes dominant congenital lens cataract, reveals impaired cell-to-cell adhesion.

PubMed ID: 24120416

DOI: 10.1016/j.exer.2013.09.019

PubMed ID: 25946197

Title: Identification and functional analysis of a novel MIP gene mutation associated with congenital cataract in a Chinese family.

PubMed ID: 25946197

DOI: 10.1371/journal.pone.0126679

PubMed ID: 28839118

Title: High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia.

PubMed ID: 28839118

DOI: 10.1534/g3.117.300109

PubMed ID: 29914532

Title: Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.

PubMed ID: 29914532

DOI: 10.1186/s13023-018-0828-0

Sequence Information:

  • Length: 263
  • Mass: 28122
  • Checksum: 6A864C8AA53CBC4B
  • Sequence:
    • MWELRSASFW RAIFAEFFAT LFYVFFGLGS SLRWAPGPLH VLQVAMAFGL ALATLVQSVG 
HISGAHVNPA VTFAFLVGSQ MSLLRAFCYM AAQLLGAVAG AAVLYSVTPP AVRGNLALNT 
LHPAVSVGQA TTVEIFLTLQ FVLCIFATYD ERRNGQLGSV ALAVGFSLAL GHLFGMYYTG 
AGMNPARSFA PAILTGNFTN HWVYWVGPII GGGLGSLLYD FLLFPRLKSI SERLSVLKGA 
KPDVSNGQPE VTGEPVELNT QAL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.